Synapse – Autumn 2005 Page 1 Table of Contents pages Event Reports 2 SP Foundation 2-8 Caregiving 12 Living with PLS/HSP 13-19 Medical Updates 8-12 Event Photos 20 TeamWalks - 2005

National - Ohio October 2 Northeast September 11

Northwest October 8 Oklahoma September 17 Autumn 2005

Serving the Primary Lateral Sclerosis Community since 1997 Welcoming the SP Foundation since 2003 and Carrol Doolen at the Red Lobster. We when a cure is found, I will be roller blading had a great meal and visit. Marlene was one right along side of her, holding her hand. of the founding board members of the SPF Norman Regional Hospital brought out lunch and it was indeed a pleasure to meet her. for us to enjoy after the walk. They also sent On Saturday, it was very nice to be able to Chaplin, Mike Bumgarner to lead us in a place faces with e-mail contacts and also to very informative discussion about visit with old friends at the same time. After depression. His discussion was based on visiting a while, we walked and rolled along our comments to him about depression the beautiful Legacy Trail. My daughter led related to a variety of situations including the walk wearing her roller blades because, loss of jobs due to disability, losing the ability to do things we used to do and being annual Austin Patient Connection was held dependent on someone else. His main pointtoday. "We are the Experts" was the theme. was to find a sounding board, an impartial After a tasty lunch, we held a round table person you can talk with about how you feel discussion about a variety of subjects and what you are going through. Several of dealing with PLS and HSP. Before the us met at the Santa Fe Grill that evening discussions, a Certificate of Appreciation and enjoyed talking and eating together. Wewas presented to Mike Schultz representing then went to the hotel guest area and the Austin Windsurf Club (AWC). For the continued to visit until about 10:30. All in all, ast four years, the AWC has designated the it was a great weekend and an experience Spastic Paraplegia Foundation (SPF) to we will never forget. SP National receive the funds generated from the club's ​ Conference and TeamWalk Columbus, OH"Learn to Windsurf Day Festival". It was ​ September 30-October 2 Contributed by good to see returning Austin Patient th Thurza Campbell, editor The 5 annual​ SP Connections participants. One couple drove ​ National Conference and TeamWalk was n from Houston. Some new things were masterfully organized by Margie and Paul earned by everyone as we each shared Brockman. Their energy, enthusiasm and nformation. youth reached beyond our patient New England TeamWalk Newport, Rhode community to include the wider community ​ Island. September 11, 2005 Contributed by in the weekend. The event began Friday Kathi Geisler The first 2005 TeamWalk took evening with, casual get acquainted time, place today in Newport, RI. A perfectly then a buffet followed by introductions and glorious fall day was enjoyed by all. We had questions to the SP Board members. The 32 people from MA, CT, NH and NY. Some weekend full of special activities for kids of us got to the picnic area on the wharf began this evening. Saturday was the early so we could make claim to a bunch of National Conference, attended by 112 picnic tables. By 11:30, all of us had arrived people, our largest yet! National ​ and were having a great time connecting Conference Speakers Ed. Note: The ​ with old friends and meeting some new paragraphs below are my attempt to capture ones. Some walked before lunch, most some of the points made in each talk. The afterwards. We had a Subway lunch at talks were videotaped. Please watch for the 12:00 with more socializing and then began announcement of their availability so you our TeamWalk at 1:00. I think we all looked can see and hear the complete talks. pretty smashing in our TeamWalk T-shirts! EVENT REPORTS Mid America TeamWalk Norman, ​ Oklahoma. September 17, 2005 Contributed SP Patient Connection Luncheon Austin, ​ by Mark Dvorak We had a wonderful time at Texas. Saturday, September 3, 2005 the Mid America TeamWalk and Connection Contributed by Marlene Doolen The fourth for Our Cures held in Norman, Oklahoma. Topeka, Kansas; Norman, Purcell, The Event was attended by 32 people and Oklahoma City, Stillwater, Fairmont, and they came from these various cities and Tulsa, Oklahoma. On Friday evening, I states: Austin, Allen, and Bulverde, Texas; enjoyed meeting Marlene

Synapse – Autumn 2005 Page 2 disorder? SOD1 mice and ALS mice have swimming pool accident at age 19. Through already advanced understanding of the rigorous therapy she has reclaimed 25% processes of the disease, e.g. how proteins use of her arms, and can actually walk with malfunction. Environmental factors may also crutches. She told of her gold medal play a part in disease development. Both the Olympic wins, and of her marathon disorders PLS and HSP are disorders of the participations. In her inspiring talk, she same systems – upper motor neurons. shared with the audience her five tools to Understanding the process of transport of cope with disability: 1.Attitude- a positive messages from brain through the spinal attitude will let you triumph 2.Find your cord is the mystery needed to be solved in significance – for Stacy her significance is both. Nailah Siddique explained that one through Christ and God. Find who you are person has been hired part time at NWU on the inside. 3.Courage – being afraid but using the money from the SP grant to collect doing something anyway. 4.Perseverance – and organize samples and data. As a result, don’t give up on your dreams. She they are making progress collecting data. completed her first marathon in 111⁄2 hours! The number of patients in data base has Research Advances in HSP Dr. John Fink ​ doubled: 152 patients of these, 22 had both HSP is a group of conditions. HSP is parents living (the best kind of sample); 450 genetic, it is usually progressive, and usually community controls with no disease have only affects the body from the waist down. also given samples. Spasticity At least 29 different genes can cause HSP. ​ Management and Botulinum Toxin Dr. It affects axons in the spinal cord. Motor and ​ William Pease With slides, a talk and sensory nerves are involved. Some of the answering questions, Dr. Pease explained genes are dominantly inherited, others how the leg muscles are impacted by HSP. recessively. A dominant gene only needs to Spasticity is caused by over- active stretch be in one parent for a child to have a 50% reflex. The muscle fails to relax when it chance of inheritance. Even if both parents should; an antagonistic interference of have recessive genes the chances of HSP opposite muscles. He explained how developing is low risk. There are many surgery is an option for some, and periodic variables as to age of onset and how the shots of Botulinum Toxin are effective for disease presents. There are complicated many. Each series of injections can last and uncomplicated forms. Complicated can several months. Dealing with Disability nvolve muscle wasting. Often very early ​ Stacy James Stacy was paralyzed in a onset childhood HSP does not progress. Genetic testing is available for some of the three to five years. The brain/spinal system dominantly inherited forms of HSP. There of humans are much more complex than may be other modifying environmental that of mouse, meaning difficulties in using a and/or genetic factors which explain the mouse model for study. If you have PLS or variability. Stretching and strengthening HSP you are still susceptible other diseases, exercises are important as part of a lifestyle such as cancer or cardiovascular disease. regime, to maintain cardiovascular health. To think that stem cells could be put into the Genetic testing is not part of the diagnostic motor cortex and have them go into the process, but can be used to confirm. Dr. spinal cord to replace damaged axons is a Fink created an analogy of a road between unrealistic. He went on to say he feels that two cities, describing various cars and cargo research should focus on learning the in the vehicles to explain motor and sensory biology of the disease and then realistic nerve disfunction. Insight into the ways to repair and reverse the symptoms. ​ Syndrome of PLS Dr. Teepu Siddique Dr. Some forms are inherited. Analysis of the ​ Siddique began his talk by reviewing the human genome will help determine what history of the study of ALS and PLS. There genes might cause PLS. Technology is has always been difficulty in determining speeding up genetic analysis; if we don’t exactly what PLS is. The diagnosis takes know what’s wrong, how can we fix a Synapse – Autumn 2005 Page 3 5.Have faith in yourself – we disabled are and activities continuing for the kids. All too people first. She has a personal relationship soon it ended, and everyone said, with God, and faith in Christ. Ed. Note: “good-bye ‘til next year”. ​ There were three other break-out sessions, NW Connection & TeamWalk Pleasanton, two led by Paul Brockman on finding a ​ medical supplier and selecting proper CA October 7-8, 2005 Contributed by Linda equipment, and one led by Robert Weld on Gentner Friday evening, 10 couples fundraising. Unfortunately I could only be in gathered for dinner at the Hilton where the one session at a time, so please rely on the out-of-towners were staying. The couples upcoming videotape for the content of these were: Angela & Jim Dixon from Arizona, sessions. Dinner or a Columbus Crew Sue & John Dutton from Placerville, CA, ​ soccer game rounded out the day. Sunday Don & Gayle Gould from Oregon and Jane was the TeamWalk. Another 123 people & John Mitchell from Escondido, CA and joined the 112 from the Conference to hear Linda & Craig Gentner who coordinated the the mayor of Columbus proclaim the day weekend festivities. Conversations ranged HSP/PLS Day! We rolled, strolled and from typical PLS/HSP discussions to how walked down High St. to beautiful Goddard couples met and to square dancing! Park. (I brought up the rear. . . but I Saturday, 60 people were in attendance. finished!) We were greeted by a band, life We had 13 people with PLS and HSP, a sized cartoon characters, drinks, snacks, good turnout for our SPF Community. We gathered for registration, and Continental meet each other. Mel and Jill Ellison of breakfast at the church before we started Learning Resources brought Eye Response out on our Walk through downtown equipment along with other types of special Pleasanton. Most walkers seemed to enjoy communications gear. After their the walk through quaint downtown presentation, Bettie Jo Wilson and Barbara Pleasanton and especially the Farmer’s Neely had a test drive. Tracy Wilson gave a Market. Then we went back to the church presentation on How to Select a Massage ​ for lunch. After lunch, Dr. Lomen-Hoerth Therapist and described different types of ​ spoke briefly about PLS and HSP and massage. She was available to give current research findings about familial ALS reflexology massage in the afternoon. After which was very exciting. She was available a catered box lunch, Bettie Jo presented for one-on-one questions after we broke for Adaptive Gardening. She made the ​ the day. Following presentation with the aid of a laptop was the announcing of the raffle prizes. We computer and Text Aloud software. A Power ended up with lots of raffle prizes thanks Point slide show completed the mainly to my daughter-in-law’s father - 4 presentation. Bettie Jo also had crafts and cases of wine! also dinners for local cards that she had made, and also seeds restaurants and some golf packages and 3 saved from heirloom plants. Racing time fun holiday decorations and an educational was approaching. Scooter and power chair toy . We had the quilt on display and we sold drivers donned uniforms from Nextel teams lots of tickets for that too. People are so of Dale Jarrett, Ricky Rudd, Elliott Sadler, impressed with the quality workmanship. All and Ryan Newman along with hats from in all, I think it was a very nice day and good Kasey Kahne. Everyone then go a close up for SPF. look at a NASCAR Modified racer, which is actually pound for pound the more powerful Autumn in Carolina IV Winston-Salem, NC ​ car racing under the NASCAR banner. The October 8, 2005 Contributed by Don Wilson rain stopped, and the Autumn in Carolina Folks began to arrive in Winston-Salem late races began. Cece “The Shot” Russell, Friday afternoon. It had been raining for two Ronnie “Frogger” Grove and Martin “Mad full days causing many attendees to have Dog” Martin lined up for the two-lap scooter major problems getting there. Saturday’s race. Mad Dog was the defending meeting began with Krispy Kreme champion, but fell behind at the start. doughnuts and Orange Glazed Breakfast Frogger led most of the first lap before Buns and plenty to time for participants to

Synapse – Autumn 2005 Page 4 being passed by The Shot. Cece held on for Prez”) Lockwood lined up for the powerchair the win. Bettie “Green Thumb” Wilson, race. Green Thumb went a little off course Barbara “Stormy Neely and Annette “The and The Blond Bombshell jumped out to a Blond Bombshell” (also known as “The ong lead, winning handily. Stormy Neely blamed her loss on her crew chief (husband to see the latest Adaptive Equipment Arthur) claiming that he forgot to charge her available. In addition to the National chair overnight. “The Shot” Russell and “The TeamWalk, seven Local TeamWalks are Blond Bombshell” Lockwood raced for the being held. Some have already taken place Championship, with Annette easily and there are few more to go. The Board of outrunning Cece. Trophies were presented Directors has elected to invest in a software to Cece and Annette. Annette also received solution to manage our mailing list and the Championship plaque and a special database. As we are getting this in place, candy bouquet. Cristina Lockwood some things have been delayed, such as squeezed into the modified racecar for a Thank You letters. Your patience and short ride. She loved the sound and feel of understanding is greatly appreciated. Once the powerful engine. The group gathered for the software is in place, it will result in a dinner at Hill’s Lexington Barbeque, after much smother and efficient operation. If you which those brave enough to stay up a little haven't purchased raffle tickets yet for the longer met in the hospitality room for stories, "Turning Leaves" quilt, you need to do so jokes and conversation. Brenda Asbury soon. http://www.sp-foundation.org/quilt.htm came alone from Texas and was a great The drawing will be held in early November. help to me. The trip home on Sunday was The quilt was on display in Columbus and it made in much better weather. Everyone is beautiful. My sincerest wishes to seemed to enjoy himself or herself, and everyone for a memorable Holiday season Bettie Jo and I will try to hold Autumn in and looking forward to a breakthrough in Carolina V next year. research that will eradicate PLS and HSP!. Annette Lockwood The Spastic Paraplegia ​ SP Foundation 2005 Research Awards FOUNDATION Announced Compiled by Mark Weber, ​ Chair for Grants Thank you so much to each A Letter from our SP President Our fifth ​ and every one of you who made this annual TeamWalk took place in Columbus, possible. It is just incredible that this small Ohio on October 2, 2005. It was a community has joined hands and worked spectacular event beginning with the real hard to help scientists find our cure. Mayor's office declaring October 2, 2005 And we've had fun doing it---meeting new HSP/PLS Day and ending at Goodale Park friends---and learning how others with cartoon characters and finger printing experience and deal with these disorders. for the children. Over 200 people And actually hearing and meeting the top participated in the walk. Prior to the scientists and physicians who are working to TeamWalk, the National Conference was find our cures. Grant I "Analysis of Spastin held. We had the opportunity to hear the and Atlastin in the cell biology of neurons". latest from Dr. Fink, Dr. Siddique and Dr. Brett Peter Lauring, M.D., Ph.D., of the Pease. Attendees also had the opportunity Columbia University College of Physicians and Surgeons in New York City. Dr. Lauring the mechanisms underlying ALS2, a form of was awarded a two year grant totaling hereditary spastic paraplegia, using ALS -/- $96,701 for his project. Dr. Lauring mice". Michael R. Hayden, M.D., Ph.D. and published an article in the Journal of Cell Blair R. Leavitt, Ph.D. of the Center for Biology this past February entitled "Linking Molecular Medicine and Therapeutics at the axonal degeneration to microtubule University of British Columbia, in Vancouver, remodeling by Spastin-mediated British Columbia, Canada. microtubule severing." Grant II "Revealing

Synapse – Autumn 2005 Page 5 Drs. Hayden and Leavitt were awarded a has discovered that precursor cells already two year grant totaling $149,896 for their present in mouse brains can be induced to project. Dr. Hayden has been researching produce new motor neurons and then grow the ALS2/Alsin gene since the late 1990's. axons that project down the spinal cord. As He is co-author of seven scientific journals recently as five years ago, scientific dogma about ALS2/Alsin, the most recent of which nsisted that this was completely impossible. was published in March of this year in the The long-term goal of Dr. Macklis and his journal "Neurobiology of Disease", and team is to repair and generate new motor included Dr. Leavitt as another co- neurons in human brains without author.Note that some researchers argue transplanting any cells into the brain. He has that the disorder caused by mutations in the discovered genetic "switches" that can ALS2 gene is PLS, not HSP. Drs. Hayden activate stem cells that are already present and Leavitt, and a team in Italy call it HSP. n the brain and turn them into upper motor Whether you call it HSP or PLS, this neurons, and then induce them to grow research will obviously help both disorders. axons that project down the spinal cord and Grant III "Molecular genetic controls over connect to lower motor neurons. Grant IV the development, connections, and survival "Invertebrate model of hereditary spastic of upper motor neurons". Jeffrey Macklis, paraplegia” Peter Hedera, M.D., of the M.D., the Director of the Massachusetts Department of Neurology at Vanderbilt General Hospital--Harvard Medical School University, in Nashville, Tennessee. Dr. Center for Nervous System Repair, in Hedera was awarded a two year grant Boston. Dr. Macklis was awarded a two year totaling $90,000 for his project . grant totaling $121,660 for his project. Dr. Dr. Hedera has published at least eight Macklis published several papers in the past articles in various medical journals about 12 months dealing with neuronal repair and HSP--most with his colleague John Fink, replacement therapies. In particular, see M.D. when Dr. Hedera was at the University "The repair of complex neuronal circuitry by of Michigan prior to 2002. Another article is transplanted and endogenous precursors" in currently in press and is due out soon. Grant NeuroRx. 2004 Oct;1(4):452-71.Dr. Macklis V "Mecanistic interactions among hereditary spastic paraplegia genes” Kendall S. with the local TeamWalks.) Kathi also Broadie, Ph.D., a Professor of Neurobiology created the SPF web site, which she at Vanderbilt University, in Nashville, maintains to this day. In short, Kathi has Tennessee. Dr. Broadie was awarded a one been the SPF dynamo. If you saw year grant totaling $54,673 for his project. something happen related to the SPF, Kathi His grant may be extended for an additional was there--if not out in front, then behind the year. (We ran out of money and couldn't scenes. Annette Lockwood is the SPF fund Dr. Broadie's work for a full two years president. She brings her management as originally hoped. But if we raise enough talents as an executive with Exxon/Mobil to this year, we will consider extending his the SPF. In just 6 short months under grant for an additional year.) Dr. Broadie Annette's leadership, the SPF has spoke about his research at the SPF's organized more fundraising events than Connection earlier this year in Nashville, ever before. And there are management Tennessee. Personal Reflections about initiatives in the works that we hope will ​ SP History Contributed by Mark Weber bring the SPF to the next level. Annette also ​ Kathi Geisler devoted over three years of has spearheaded the SPF drive through the her life to making the SPF happen. She Exxon/Mobil Favorite Charities Campaign. traveled around the country to Patient Last year her work there raised $27,500. Connections that she either organized by Marlene Doolen was the SPF secretary for 3 herself, or helped others to organize. She years and kept our "back office" running. organized the first three annual You never saw her in this role, but her work TeamWalk/SPF Conferences that were our was major source of revenues. (And she helped Synapse – Autumn 2005 Page 6 crucial. She also organized an annual SPF TeamWalk/SPF Conference in Columbus, fundraiser in Texas each year--a Learn to Ohio to be held September 30th -- October nd Windsurf day. Frank Davis took over 2 .​ David Lewis is the Chief Financial ​ Marlene's responsibilities this year and is Officer of a company in the Atlanta area. He doing a superb job. He is also involved with s also the SPF Treasurer. In that role he our mailings--a huge job. Linda Gentner has handles all of the donations received by the also been a major force in SPF fundraising. SPF, maintains our financial books, and In addition to spearheading the SPF prepares our financial statements and IRS cookbook work, she has organized a local filings. His work is critical to our success. TeamWalk in California again this year. Chris Brocchini remains a large SPF Linda and her husband Craig have traveled fundraiser in California. There's nothing to many SPF functions around the country sexy about raising money--just a lot of hard over the years. Linda is also a valued work. Chris gets the job done, keeping those member of our Board of Directors. Paul checks flowing in. Jean Chambers Brockman organized the National represents the SPF in Canada. Jean is a Milbourne Memorial Golf Classic to raise valued member of our Board of Directors money for the SPF. Harvey Mover has and is raising money for HSP/PLS research organized the "Loop for Life" motorcycle ride being carried out in Canada. Jean has in Indianapolis, Indiana again this year. A already organized and held a local potion of those monies goes to the Teamwalk in West Vancouver, British SPF--$29,000 last year. Doug Brand has Columbia, and, along with Linda Gentner, donated his artistic and design talents and she is heading up our "Turning Leaves Quilt has designed many of the SPF promotional Raffle" project this year. Jim Sheorn joined materials over the years. I have undoubtedly our Board last year and has already failed to mention others who have given of organized an SPF Conference/Connection themselves to further our cause. I apologize in his hometown of Nashville. He has also in advance for my mistakes. The people who organized a local TeamWalk to be held this have done the work are the SPF heroes. I October. And there are so many others who applaud you all. Memorial Donations to SP ​ have given of themselves to help this Foundation SP Foundation is happy to ​ community through the SPF. Everyone accept and properly acknowledge donations involved is an SPF hero. They include Mark given in memory or in honor of friends and Dvorak, Betsy Baquet, and Bonnie Guzelf. loved ones. You may feel moved to give a Ronnie Grove held her annual Spring Fling gift to SP to acknowledge a significant effort this year--even though she was recovering of a friend or loved one. Often a death from surgery. Ronnie is also spearheading needs to be memorialized, and the family the "Saving Pennies for SPF" campaign. does not have a favorite charity. You can Don Wilson continues to hold his fabulous, make SP Foundation the recipient of annual "Autumn in Carolina" event every memorials, by sending checks to the SP October, along with his famous SAWCAR Treasurer, David Lewis, PO 1208, Fortson, Race (Scooter and Wheel Chair Association GA 31808. of Racing) to bring people affected by these disorders together. Dolores Carron has End of Year Donations of Appreciated Stock to SP Foundation Start planning organized a support group for PLSers and ​ HSPers in the Connecticutt area. Every year now for end of the year donations to SP she also holds a patient Connection. The Foundation. Have you considered taking entire Milbourne Family (including Joan advantage of the opportunity to donate Heinicke, Jack Heinicke, Ruth Easterling, appreciated stock to SP Foundation? Rick Easterling, Randy Easterling, John Donating appreciated stock is a bonus for Heinicke, Joe Heinicke, Sandie Heinicke, both you the donor and the SP Foundation. Lisa Lewald, Gail Easterling, Wendy You avoid capital gains tax, are credited Easterling, Lee Heinicke, Cindy Compher, with the charitable contribution at the Kevin Compher, LuAnn Webb, and John appreciated value and SP sells Webb) organized the annual Richard G. Synapse – Autumn 2005 Page 7 the appreciated stock to add to our dollars caregiver. It is easy to lose your identity as for research. SP Treasurer David Lewis is an individual and that is why it is so making all necessary arrangements with the mportant to cling to the core of your bank that has the SP Foundation account. personality. Do the things that make you We will post detailed instructions for you happy, that let you say: "I feel like 'me' when ASAP on the stock transfer process. You I am doing this or that, or I like 'me' when I may also contact David directly at PO 1208, am being this way." Caregiving so often Fortson, GA 31808. keeps us off balance. It is easy to get lost in ts physical and psychological maelstrom-the sadness, the frustration, the CAREGIVING stress and strain on your body and your mind, the financial worries, the emotional Ed. Note: November is National Caregiver pain. All the more reason to step out of the Appreciation Month according to the MA frame on a regular basis, and cultivate the Chapter ALSA. I hope the following articles other parts of yourself, to learn to give to and resources will affirm and support the yourself in addition to giving to others. caregivers of our patient community. Principle # 3 Seek, Accept and At Times Four Messages for Caregivers Excerpted Demand Help Family caregivers regularly ​ from National Family Caregivers Association seek supportive relationships with other and the National Alliance for Caregiving caregivers, knowing they can provide the Principle # 1 Choose to Take Charge of emotional sustenance needed during Your Life Obviously we cannot control difficult times. Support doesn't change the everything that happens to us, or to our circumstances under which you are living loved ones. But we can make active choices That's the work of a different word-and that about how we are going to deal with the word is HELP. How do you get the help you circumstances of our lives. We can choose need, and where do you find it? Many to martyr ourselves in the interests of the people think asking for help is a sign of loved one for whom we are caring, or we weakness.Asking for help is a sign of can set limits on what we as individuals can strength because it acknowledges the and cannot do without causing irrevocable difficulty of the situation at hand. It is a sign damage to our own health or the other of strength because it requires putting pride relationships in our lives. Knowing that aside and acting in the best interest of your circumstances change, including our own loved one and yourself. Principle # 4 Stand health and innate capabilities it is vital to Up and Be Counted It is important to learn to take charge of our lives. Principle # acknowledge your role as a family caregiver 2 Love, Honor, and Value Yourself It is easy because that bonds you with the millions of to lose your true self while being a family other family caregivers in America who share many of the same worries and concerns that you have. Well Spouse Spouse support groups meet monthly. WS ​ Association http://www.wellspouse.org/ support groups are also an excellent source ​ 1-800-838-0879 Illness and accident attack for information on a wide-range of practical without warning and can happen to anyone. issues facing spousal caregivers. Well No two people are living in the same Spouse support groups exist or are being situation and no two illnesses exact the formed in many areas of the country. Well same toll. All well spouses face similar Spouse publishes a bi-monthly newsletter, problems of anger, guilt, fear, isolation, "Mainstay".Our organization also helps set ​ ​ grief, and financial threat whether they are up letter writing "round robins" to help those full-time caregivers or whether their members who can't get out too often break partners have only moderately disabling the bonds of isolation. Well Spouse also illnesses. Well Spouse is a national, not for works to make health care professionals profit membership organization which gives and the general public aware of the great support to wives, husbands, and partners of difficulties caregivers face every day. the chronically ill and/or disabled. Well Membership fees, individual donations,

Synapse – Autumn 2005 Page 8 foundation and corporate grants, bequests, public awareness of family caregiving endowments and commemorative gifts ssues. If you have questions on caregiving, support our organization. Donations are tax would like more information on the Alliance deductible to the extent provided by law. To and its programs, or would like to learn how become a Well Spouse member complete to order paper copies of Alliance the application, print it out, and mail it in with publications, please contact: National your dues payment. You can write to us at Alliance for Caregiving 4720 Montgomery Well Spouse Association, 63 West Main Lane, 5th Floor Bethesda, MD 20814 Street -- Suite H, Freehold, NJ 07728, or call us at 1-800- 838-0879 When one is The National Family Caregivers ​ sick...two need help. National Caregiving Association 1-800-896-3650 The National ​ ​ Alliance Established in 1996, The National Family Caregivers Association (NFCA) ​ Alliance for Caregiving is a non-profit supports, empowers, educates, and speaks coalition of national organizations focusing up for the more than 50 million Americans on issues of family caregiving. Alliance who care for a chronically ill, aged, or members include grassroots organizations, disabled loved one. NFCA reaches across professional associations, service the boundaries of different diagnoses, organizations, disease-specific different relationships and different life organizations, a government agency, and stages to address the common needs and corporations. The Alliance was created to concerns of all family caregivers. We are conduct research, do policy analysis, committed to improving the overall quality of develop national programs and increase ife of caregiving families and minimizing the disparities between family caregivers and using a mouse, experienced users can non-caregivers. We envision an America in write at 39 words per minute. Dasher is ​ ​ which the contributions of family caregivers free! to the welfare of their loved ones and to society is recognized and supported by all Exercise Equipment for Disabled societal sectors. In short, we envision an 1-888-298-9922 Daily exercise has long America in which the work of family been recognized as an essential caregiving is recognized and rewarded in a component of health. The Ex N' Flex Leg manner commensurate with its importance. Machine has been designed for those who 10400 Connecticut Avenue, Suite have little or no control over lower body 500 Kensington, MD 20895-3944 movement. In passive mode, the legs are Toll Free:1-800-896-3650 Phone: rotated by the electric motor in an orbital 301-942-6430 Fax: 301-942-2302 motion similar to cycling. This prevents atrophy of joints, muscles & tendons. In active mode you can assist the motor to LIVING WITH HSP/PLS move the pedals with your own muscles.

Free Dasher Software Dasher is an Adaptive Golf Accessories Phone ​ ​ information-efficient text-entry interface, 1-319.268.0939 Upright Golf products are driven by natural continuous pointing designed to reduce the amount of repetitive gestures. Dasher is a competitive text-entry bending that's traditionally required when system wherever a full-size keyboard playing golf. They believe that golf is truly a cannot be used - for example, on a palmtop great game. They encourage you to play it, computer; on a wearable computer; when and to play it UPRIGHT. operating a computer one-handed, by Disability Benefits Contributed by joystick, touchscreen, trackball, or mouse; ​ when operating a computer with zero hands Dolores Carron I know from personal (i.e., by head-mouse or by eyetracker). The experience that shower modification cost eyetracking version of Dasher allows an is tax deductible--I did that this past year. experienced user to write text as fast as Links that I'd recommend are: normal handwriting - 25 words per minute;

Synapse – Autumn 2005 Page 9 1) "Take It All Off" from the MDA Quest "Take It All Off 2" article in MDA Quest Magazine, written by Armand Legault who Magazine 3) the IRS publication document was a tax auditor for the State of CT for 502 entitled Medical and Dental Expenses more than 30 years and is a disabled (Including the Health Coverage Tax person himself, so he knows the issues from Credit)This document gets updated each both sides of the desk (he was a speaker at year. These references are good starting our last two CT Connections) 2) a follow up points for the thought process of analyzing your particular issues. As Armand grounds, the carrier must provide a written emphasized in his presentations, any explanation of the decision. Airlines may not modifications of home or vehicle that are require advance notice that a person with a necessary because of medical conditions disability is traveling. Carriers may require are tax deductible. Your tax advisor may up to 48 hours’ advance notice for certain help with other suggestions, as well. Not accommodations that require preparation only the initial costs of such projects time (e.g., respirator hook-up, transportation deductible, but also the ongoing expenses of an electric wheelchair on an aircraft with incurred by their maintenance and use--for less than 60 seats). Carriers may not limit instance, the additional electricity to run a the number of disabled persons on a flight. bi-pap machine would be tax deductible. I Carriers may not require a person with a recently added a therapeutic heated pool disability to travel with an attendant, except addition to my home so I keep track of the in certain limited circumstances specified in extra cost of gas to heat the water, the rule. If a disabled passenger and the chemicals to maintain the water, etc. for carrier disagree about the need for an yearly ongoing deductions. attendant, the airline can require the attendant, but cannot charge for the Stair Lift Summit Stair Lifts.1-888-252-2205 ​ transportation of the attendant. Airlines may The AC Powered Summit Stair Lift is a stair not keep anyone out of a seat on the basis lift designed to fit into your home. The lift of handicap, or require anyone to sit in a usually takes only a few hours to be particular seat on the basis of handicap, installed in your home. Passengers with ​ except as an FAA safety rule requires. Disabilities The Air Carrier Access Act ​ FAA's rule on exit row seating says that prohibits discrimination on the basis of carriers may place in exit rows only persons disability in air travel and requires U.S. air who can perform a series of functions carriers to accommodate the needs of necessary in an emergency evacuation. passengers with disabilities. The Accessibility of facilities New aircraft with ​ Department of Transportation has a rule 30 or more seats must have movable aisle defining the rights of passengers and the armrests on half the aisle seats in the obligations of air carriers under this law. The aircraft. "New aircraft" requirements apply to following is a summary of the main points of planes ordered after April 5, 1990 or the DOT rule (Title 14 CFR, Part 382). delivered after April 5, 1992. No retrofit is Prohibition of Discriminatory Practices required, although compliance with on-board Carriers may not refuse transportation to wheelchair requirements (see below) people on the basis of disability. Airlines became mandatory on April 5, 1992 may exclude anyone from a flight if carrying regardless of the plane’s age. As older the person would be inimical to the safety of planes are refurbished, required the flight. If a carrier excludes a person with accessibility features (e.g., movable a disability on safety armrests) must be added. New widebody (twin-aisle) aircraft must have accessible was ordered or delivered. For flights on lavatories. New aircraft with 100 or more aircraft with more than 60 seats that do not seats must have priority space for storing a have an accessible lavatory, carriers must passenger’s folding wheelchair in the cabin. place an on-board wheelchair on the flight if Aircraft with more than 60 seats and an a passenger with a disability gives the airline accessible lavatory must have an on-board 48 hours’ notice that wheelchair, regardless of when the aircraft Synapse – Autumn 2005 Page 10 he or she can use an inaccessible lavatory accept battery-powered wheelchairs, but needs an on-board wheelchair to reach ncluding the batteries, packaging the the lavatory. Airport facilities owned or batteries in hazardous materials packages operated by carriers must meet the same when necessary. The carrier provides the accessibility standards that apply to packaging. Carriers may not charge for Federally-assisted airport operators. Other providing accommodations required by the ​ Services and Accommodations Airlines rule, such as hazardous materials ​ are required to provide assistance with packaging for batteries. However, they may boarding, deplaning and making charge for optional services such as connections. Assistance within the cabin is oxygen. Other provisions concerning also required, but not extensive personal services and accommodations address services. Ramps or mechanical lifts must be treatment of mobility aids and assistive available for most aircraft with 19 through devices, passenger information, 30 seats at larger U.S. airports by accommodations for persons with hearing December 1998, and at all U.S. airports with mpairments, security screening, over 10,000 annual enplanements by communicable diseases and medical December 2000. Disabled passengers’ certificates, and service animals. Additional items stored in the cabin must conform to nformation may be obtained by contacting FAA rules on the stowage of carry-on [email protected]. Office of Aviation baggage. Assistive devices do not count Enforcement and Proceedings 400 Seventh against any limit on the number of pieces of Street, SW, Room 4107 carry-on baggage. Wheelchairs (including Washington, DC collapsible battery-powered wheelchairs) 20590 and other assistive devices have priority for in-cabin storage space (including in closets) MEDICAL RESEARCH UPDATES over other passengers’ items brought on Reflections on Research Benefits for board at the same airport, if the passenger HSP and PLS Contributed by Mark Weber I ​ with a disability chooses to preboard. firmly believe that research on HSP or PLS Wheelchairs and other assistive devices will directly help scientists understand---and have priority over other items for storage in ultimately cure---both disorders. Why? the baggage compartment. Carriers must Scientists need to understand the symptoms are the same, but some bio-chemical processes that are defective in researchers classify the symptoms HSP and PLS and that cause the symptoms differently.) Research to understand the role that we struggle with daily. Once they know of the Alsin protein in a neuron, will help to what is going wrong, they can discover explain the defective cascade of events that cures. Uncomplicated HSP Both PLS and results in sporadic PLS. SPF has funded HSP share certain symptoms-- lower body two genetic studies – one for PLS, one for symptoms. Work on the underlying cause of HSP. Research on Alsin has also been uncomplicated HSP (HSP with lower body reported by labs in Chicago, Quebec, symptoms only) will help scientists to London, Tokyo, and Lyon (France). Troyer understand the cause of those same Syndrome PLS can affect one's ability to symptoms in sporadic PLS. The Spastic speak. Troyer syndrome is a complicated Paraplegia Foundation has funded several form of HSP that includes loss of speech as studies dealing with the causes of a symptom. Research on the cause of uncomplicated HSP.Additional work on the Troyer syndrome will also shed light on the genes and resulting proteins that cause bio-chemical cause of the loss of speech uncomplicated HSP is on-going in a experienced by those with sporadic PLS. significant number of additional labs Research on understanding how defective throughout the United States and Europe. Spartin protein causes Troyer syndrome is Alsin Familial PLS caused by mutations in being done in England in at least one lab the ALS2/Alsin gene also causes HSP. (The and in at least

Synapse – Autumn 2005 Page 11 one lab in the United States. Silver HSP selectively attack the longest upper Syndrome The onset of PLS can sometimes motor neurons. Neurons that control speech occur in the hands. Further, some cases of are also attacked in PLS and by a form of PLS show some lower motor neuron HSP called Troyer syndrome. Neurons that damage--although such damage is not control hand muscles are selectively significant. Silver syndrome is a complicated attacked in Silver Syndrome and PLS. form of HSP that attacks upper motor Although the tools to identify the causes of neurons as well as selected lower motor sporadic disorders such as PLS either don't neurons (causing muscle wasting in the exist or have failed to determine the cause hands). Research on understanding how of sporadic PLS, the tools of geneticists Silver syndrome attacks the neurons that have found genes that cause a familial form control the hands will also help to unravel of PLS (alsin) and complicated forms of the cause of PLS. Work to identify the gene HSP that share symptoms with PLS (the responsible for Silver Syndrome is on-going uncomplicated forms of HSP, as well as in London. Summary The bottom line is that complicated forms such as Troyer we are all in this together. Both PLS and Syndrome and Silver Syndrome). Scientists are now going beyond the identification of discs) on the scalp with an electrode cap or disease causing genes to determine the glue-like substance. A conductive gel is functions of the proteins created by those used to fill the space between the genes. Undoubtedly sporadic PLS will be electrodes and the scalp to make sure there found to be caused by some defect in the is good contact between them. The brain same cascades of events that cause the waves are recorded while the subject taps various forms of HSP mentioned above. his or her fingers very slowly. For the When the cures are discovered, won't it be surface EMG, electrodes filled with a great to know that we all helped? By raising conductive gel are taped to the skin. the monies that you do every year, we fund Participants also undergo magnetic research that is leading to our cures. resonance imaging (MRI). This test uses a strong magnetic field and radio waves to NIH Study Seeking Volunteers Title: obtain images of the brain. During the Movement Related Cortical Potentials procedure, the subject lies still on a table in Primary Lateral Sclerosis Number: that can slide in and out of the scanner - a 04-N-0017 Summary: This study will narrow metal cylinder. Scanning time varies examine whether the motor cortex (the from 20 minutes to 3 hours, with most scans part of the brain that controls movement) lasting between 45 and 90 minutes. works properly in patients with primary Subjects can communicate with the MRI lateral sclerosis (PLS), a disorder in staff at all times during the scan and can which voluntary movements are very slow. ask to be moved out of the machine at any Healthy volunteers between 40 and 75 time. Toll Free: 1-800-411-1222 years of age and patients with ascending 301-594-9774 (local),1-866-411-1010 (toll PLS (a subset of PLS) may be eligible for free) Fax: 301-480-9793 this study. Patients with ascending PLS have a slowing of finger-tapping movements Research that corresponds to a particular abnormality Snippets of certain neuronal (nerve cell) activity. New Locus for HSP Maps to Participants perform a finger-tapping Chromosome 1p31.1-1p21.1. SOURCE: reaction time exercise while brain wave ​ Ann Neurol. 2005 Aug 29;58(3):423- 429 activity (electroencephalography, or EEG) and muscle activity (electroymogram, or We have updated the clinical description of EMG) are measured. The subject is seated a large Scottish pedigree, in which patients in front of a computer screen. A signal ​ appears on the screen and the subject taps were affected by spastic paraplegia a key as quickly as possible in response to complicated by hearing impairment and the signal. For the EEG, brain activity is persistent vomiting due to hiatal hernia recorded by placing electrodes (small metal inherited as an autosomal Synapse – Autumn 2005 Page 12 dominant trait. Using a genome-wide s present in all degenerative brain diseases mapping approach, we identified a novel and spinal cord injuries, causing permanent locus (SPG29) for this form of hereditary cell death and preventing the repair of spastic paraplegia on chromosome damaged nerve connections. Glutamate is 1p31.1-21.1 and narrowed it to 22.3cM produced as part of the body's natural between markers D1S2889 and D1S248. reaction to central nervous system damage. Sequencing of one candidate gene in the In the new study, researchers at the Brain region (sorting nexin 7, SNX7), involved in Laboratory at the University of Helsinki and several stages of intracellular trafficking and at the Johnnie B. Byrd, Sr., Alzheimer's protein transport, showed no Center & Research Institute in Tampa, FL disease-causing mutations. show KDI to be a potent and wide-ranging blocker of glutamate's damaging chemical Transcutaneous Electrical Nerve processes. It therefore has a tremendous Stimulation Versus Baclofen in ability to protect the brain and spinal cord Spasticity: Clinical and from cell death and even enable regrowth. Electrophysiologic Comparison. Am J Human clinical trials are expected to begin ​ Phys Med Rehabil 2005;84:584-592. as soon as next year. The Byrd OBJECTIVES:: Clinical and Institute is dedicated to helping and electrophysiologic comparison of the coordinating research, as well as building efficacy of transcutaneous electrical nerve national and international collaborations. stimulation (TENS) and oral baclofen in the Contact Amy Giordano Director of Clinical treatment of spasticity. DESIGN:: Patients Research 813- 866-1611. with spinal cord injury and spasticity were Research in the ALSTDF Digest Stem included in the study. Ten patients were ​ assigned to oral baclofen and 11 to TENS Cells Researchers find how newborn groups. CONCLUSION:: TENS may be neurons replace dying cells recommended as a supplement to medical http://www.als.net/articles/articleDetail.asp? treatment in the management of spasticity. artic leId=3750 Brain cells generated in a New Study Reveals Potential for Radical dish - Discovery pinpoints the true 'stem New Treatment of Paralysis and Brain http://www.als.net/articles/articleDetail.asp? Disease The study suggests wide-ranging artic leId=3745 Research marks giant step ​ applications; Findings could impact millions in potential of using stem cells to treat with spinal cord injuries, Alzheimer's human disorders disease, ALS, Parkinson's disease and http://www.als.net/articles/articleDetail.asp? other debilitating illnesses- The study, artic leId=3743 Drug Trial Thanks to efforts published in the Journal of Neuroscience of ALS patients, U.Va. doctor can keep Research, shows how a protein called KDI giving drug tri- peptide (KDI) can block the harmful http://www.als.net/articles/articleDetail.asp? effects of a substance called glutamate that artic leId=3739 and other subcerebral projection neurons, Fezl Is Required for the Birth and controlling early decisions regarding Specification of Corticospinal Motor lineage-specific differentiation from neural Neurons SOURCE: Neuron, Volume 47, ​ progenitors. Issue 6 , 15 September 2005, Pages 817-831 (NOTE: This work was done by Dr. Jeffrey Macklis's team at Harvard Medical Spastin Mutations in Sporadic Spastic School. The SPF just awarded Dr. Macklis Paraplegia SOURCE: J Med Genet. a 2 year grant to continue his work. It ​ Published Online First: 31 July 2005. shows that a gene called Fez1 can turn Background: SPG4 encodes spastin, a stem cells that are present in the brain into member of the AAA protein family, and is motor neurons. This was considered the major gene responsible for autosomal impossible just 5 years ago.) Data indicate dominant spastic that Fezl plays a central role in the specification of corticospinal motor neurons Synapse – Autumn 2005 Page 13 paraplegia. It accounts for 10-40% of different mutations, 13 of which were novel, families with pure (or eventually n 18 different patients. In one family, where complicated) hereditary spastic paraparesis both parents were examined and found to (HSP). SPG4 mutations in patients without a be normal, the mutation was shown to be family history has not been systematically transmitted by the asymptomatic mother, studied. Objective: To assess the frequency ndicating reduced penetrance. The parents of SPG4 mutation in a large series of of other patients were not available for patients with spastic paraplegia without analysis but were reported to be normal on family histories. Patients and methods: We history. There was no evidence for de novo selected 146 mostly European probands mutations. The mutations found in these with progressive spastic paraplegia for apparently isolated patients were mostly of which major neurological causes were the missense type and tended to be excluded and without familial history of the associated with a less severe phenotype disease. One hundred and three probands than in previously described patients with presented pure spastic paraplegia while 43 nherited mutations. Conclusions: The had additional features. DNA was screened unexpected presence of SPG4 gene by DHPLC for mutations in the 17 coding mutations in patients with sporadic spastic exons of the SPG4 gene. Sequence paraplegia argues in favour of gene testing variants were characterized by direct n patients with pure or complicated spastic sequencing. A panel of 600 control paraplegia without family histories. chromosomes was used to rule out polymorphisms. Results: The overall rate of A Case of Presumptive PLS with Upper and Lower Motor Neurone Pathology. mutations was 12%. We identified 19 ​ SOURCE: J Clin Neurosci. 2005 HSP Hedera P, Eldevik OP, Maly P, Rainier ​ Aug;12(6):706-9. Motor Neurone Disease S, Fink JK. Department of Neurology, The (MND) is one of the commonest University of Michigan, Rm. 5214 CCGCB, neurodegenerative disorders of adulthood. 1500 E. Medical Center Drive, Ann Arbor, MND characteristically presents with a MI, 48109-0940, USA. Hereditary spastic combination of both upper and lower motor paraplegia (HSP) is a genetically neurone features. Primary Lateral Sclerosis heterogeneous group of neurodegenerative (PLS) is thought to be a variant of MND disorders characterized by progressive presenting with purely upper motor neurone lower extremity weakness and spasticity. signs. Debate continues over whether PLS HSP pathology involves axonal constitutes a distinct pathological entity or degeneration that is most pronounced in the whether it is part of the spectrum of motor terminal segments of the longest neurone diseases that present as an upper descending (pyramidal) and ascending motor neurone-predominant form of MND. (dorsal columns) tracts. In this study, we We present a case of MND with purely compared spinal cord magnetic resonance upper motor neurone features and a imaging (MRI) in 13 HSP patients with four prominent pain component. A pre- mortem different types of autosomal dominant diagnosis of PLS was made, however hereditary spastic paraplegia (SPG3A, autopsy findings demonstrated both upper SPG4, SPG6, and SPG8) with age-matched and lower motor neurone involvement. We control subjects. The cross-section area of believe these findings support the view that HSP subjects at cervical level C2 was PLS is not a discrete pathological entity, but 59.42+/-12.57 mm(2) and at thoracic level that it is a part of the range of motor T9 was 28.58+/-5.25 mm(2). Both of these neurone diseases that present with values were less than in the healthy controls predominant but not exclusive upper motor (p<0.001). The degree of cord atrophy was neurone involvement. This case also more prominent in patients with SPG6 and highlights SPG8 who had signs of severe cord atrophy the feature that pain may be associated (47.60+/-6.58 mm(2) at C2, 21.40+/-2.4 with MND even though it is not appreciated mm(2) at T9) than in subjects with SPG3 to have a sensory pathology. Ed. Note: and SPG4 (66.0+/-8.94 ​ MND=ALS

MRI to Detect Spinal Cord Atrophy in

Synapse – Autumn 2005 Page 14 mm(2) at C2, p<0.02; 31.75+/-2.76 HSP. Spinal cord atrophy was more severe mm(2) at T9, p<0.001). These observations n SPG6 and SPG8 HSP subjects than in indicate that spinal cord atrophy is a other types of HSP we studied. This may common finding in the four genetic types of suggest a different disease mechanism with more prominent axonal degeneration with synapse formation between in these two types of HSP when compared hCNS-SCns and mouse host neurons was with HSP due to spastin and atlastin observed. Glial fibrillary acidic mutations. protein-positive astrocytic differentiation was rare, and hCNS-SCns did not appear to Human neural stem cells differentiate contribute to the scar. These data suggest and promote locomotor recovery in that hCNS-SCns may possess therapeutic spinal cord- injured mice SOURCE: ​ potential for CNS injury and disease. Published online before print September 19, Synapse is compiled and sent out 2005 Proc. Natl. Acad. Sci. USA, quarterly by: 10.1073/pnas.0507063102 We report that prospectively isolated, human CNS stem Thurza Campbell, editor cells grown as neurospheres (hCNS- SCns) 212 Farm Rd. Sherborn, survive, migrate, and express differentiation MA 01770-1622 Fax: markers for neurons and oligodendrocytes 508-655-4552 after long-term engraftment in spinal cord-injured NOD-scid mice. hCNS-SCns I welcome comments and engraftment was associated with locomotor suggestions. recovery, an observation that was abolished by selective ablation of engrafted cells by Subscription: $10.00 per year, sent to the diphtheria toxin. Remyelination by editor. hCNS-SCns was found in both the spinal cord injury NOD-scid model and An on-line version is available myelin-deficient shiverer mice. Moreover, at www.synapsePLS.org ​ electron microscopic evidence consistent Synapse – Autumn 2005 Page 15 North Carolina SP Gathering Race Green flag at Start of SAWCAR Bettie Jo Wilson wife of SAWCAR winner Mad Dog Martin down organizer Don Wilson the home stretch California TeamWalk ​ On TeamWalk organizer Linda Gentner with Main St. in Pleasanton husband Craig and grandson William Arkansas TeamWalk Australia ​ Gathering Maureen, Sue Burges, Helen Garner & Sonny Garner Adrianna & Janet gather getting ready for walk st 1 e​ ver SP gathering in Australia Massachusetts TeamWalk ​ ​ Synapse – Autumn 2005 Page 16 Bottled water for walkers – a must for a hot day TeamWalk registrar and scooter winner Kris Brocchini TeamWalk organizer Sue Huskey (right) with her supportive family Synapse editor Thurza Campbell with her grandchildren SP President Weber assisted by VP Kathi Geisler wrap up the day