DOCSLIB.ORG

Molecular Diagnostics of Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Molecular Diagnostics of Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies 17_Lupski 3/30/06 1:47 PM Page 243 NeuroMolecular Medicine Copyright © 2006 Humana Press Inc. All rights of any nature whatsoever reserved. ISSN0895-8696/06/08:243–254/$30.00 doi: 10.1385/NMM:8:1:243 REVIEW ARTICLE Molecular Diagnostics of Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies Kinga Szigeti,1 Eva Nelis,2,3 and James R. Lupski*,1,4 1Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; 2Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium; 3Laboratory of Neurogenetics, Institute Born-Borge, University of Antwerp, Antwerpen, Belgium; and 4Pediatrics, Baylor College of Medicine, and Texas Children Hospital, Houston, TX 77030 Received January 10, 2006; Revised January 13, 2006; Accepted January 13, 2006 Abstract DNAdiagnostics plays an important role in the characterization and management of patients manifesting inherited peripheral neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Mole- cular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies. doi: 10.1385/NMM:8:1:243 Index Entries:Molecular diagnostics; Charcot-Marie-Tooth disease; CMT; hereditary neuropathy with liability to pressure palsies; HNPP; Dejerine-Sottas neuropathy; DSN; congenital hypomyelinating neuropathy; CHN; CMT1A duplication; HNPP deletion. Introduction genetic testing, one needs to be familiar with the diagnostic tests available, choose the appropriate Molecular genetic diagnosis has become an inte- patients for testing, and utilize the diagnostic tools gral part of the evaluation of patients with hered- in a logical fashion to optimize the use of resources. itary neuropathies. During the last decade, more This chapter summarizes the various methods used than two dozen genes have been identified in which in clinical diagnosis and reviews an evidence-based mutations cause Charcot-Marie-Tooth (CMT) disease testing scheme for molecular testing derived from and related neuropathies. When considering population data. *Author to whom all correspondence and reprint requests should be addressed. E-mail: [email protected] NeuroMolecular Medicine 243 Volume 8, 2006 17_Lupski 3/30/06 1:47 PM Page 244 244 Szigeti et al. Epidemiology Phenotype CMT disease and related peripheral neuropathies, The clinical picture is a combination of lower or hereditary motor and sensory neuropathies, motor neuron-type motor deficits and sensory signs represent a heterogeneous group of disorders and symptoms. The lower motor neuron lesion man- affecting the peripheral nervous system with an ifests as the triad of flaccid paresis, atrophy, and estimated frequency of 1 in 2500 individuals (Skre, reduced or absent reflexes. The severity of the dis- 1974). Epidemiological data from adult neuropathy ease ranges over a broad spectrum. CMT is included clinics suggest that after the common causes of in the differential diagnosis from a floppy infant to peripheral neuropathy associated with systemic an elderly patient with slowly progressive periph- illness, such as diabetes, uremia and nutritional eral neuropathy. Depending on the age of onset, deficiencies, hereditary polyneuropathy is more electrophysiological findings, and nerve pathology, common than inflammatory or paraneoplastic several clinical phenotypes were classically defined polyneuropathy (Barohn, 1998; Dyck et al., 1981), (Lupski and Garcia, 2001). Features of specific clin- and its prevalence might be as high as 29% (Barohn, ical entities are reviewed later. 1998). Although it represents a relatively large group of patients manifesting neuropathy, inherited disease Adult-Onset Disease might not be readily apparent in recessive families or patients with de novo mutations. In fact, the high Charcot-Marie-Tooth Disease Type 1 frequency of de novo duplication/deletion (37–90%) Most patients develop symptoms in the first or (Hoogendijk et al., 1992; Nelis et al., 1996) and point second decade. Patients have difficulties with motor mutations (Boerkoel et al., 2002a) in sporadic neuro- function, including tripping on rough surfaces, pathy patients necessitates one having an index inability to heel-walk, difficulty opening jars, difficulty of suspicion for genetic disease even in the absence buttoning. Secondary symptoms may develop, such of a family history. as leg cramps and lumbar pain after long walks. Signs of chronic peripheral neuropathy such as tight heel cords, steppage gait, atrophic lower leg (peroneal Diagnosis of CMT atrophy), pes cavus (high arched feet), and hammertoes develop. The deep tendon reflexes are diminished The diagnostic process for evaluating a patient with or absent, weakness in distal muscle groups and suspected CMT starts with history and physical exam- mild sensory loss to pain develop. Neurophysio- ination, which leads to the definition of the pheno- logical testing shows uniform slowing of motor type. Concomitantly, the inheritance pattern is nerve conduction velocity (NCV) in all nerves determined from the pedigree. Further characteriza- examined. Aconduction velocity less than 38 m/s tion of the neuropathy requires electrophysiology, is proposedas a cut-off value to distinguish between which determines whether the neuropathy is pri- CMT types 1 (CMT1) and 2 (CMT2). A prospective marily axonal, demyelinating, or the intermediate study of patients with documented CMT1A dupli- form. In clearly hereditary neuropathy with a known cation showed median NCV slowing to less than mutation in the family, the electrophysiology may be 43 m/s (Kaku et al., 1993). Sural nerve biopsy shows deemed unnecessary. Occasionally, sural nerve biopsy signs of demyelination and remyelination, charac- might be necessary, especially in cases in which there terized by onion bulb formation. is no family history and clinical features raise the Roussy and Levy have described a combination possibility of acquired neuropathy. Finally, other diag- of the demyelinating CMT phenotype with sensory nostic tools are under evaluation, such as noninva- ataxia and tremor, the Roussy–Levy syndrome sive magnetic resonance imaging of the peripheral (RLS). Molecular studies suggest that it might not nerve or skin biopsy for examining for small fiber be a distinct entity, rather the RLS phenotype is part neuropathy. Molecular testing is guided by the of the CMT1 spectrum, as the same mutations may phenotype, inheritance pattern, electrophysiological cause CMT1 or RLS in the same family (Harding data, and frequency data obtained in population- and Thomas, 1980; Thomas et al., 1997; Auer-Grum- based studies (Szigeti et al., 2006). bach et al., 1998; Garcia, 1999; Senderek et al., 1999). NeuroMolecular Medicine Volume 8, 2006 17_Lupski 3/30/06 1:47 PM Page 245 Molecular Diagnostics of CMT Disease 245 The original family described by Roussy and Levy to differentiate from DSN on clinical grounds only. segregated an MPZ mutation (Planté-Bordeneuve The distinction between DSN and CHN requires et al., 1999). pathological evaluation, and is based on the pres- ence or absence of onion bulbs associated with thin Charcot-Marie-Tooth Disease Type 2 or absent myelin sheaths, respectively. CHN may Clinical symptoms begin later than in CMT1, most present as arthrogryposis multiplex congenita commonly in the second decade of life, but often (Boylan et al., 1992) suggesting prenatal onset. are delayed to middle age. The clinical features closely resemble those of CMT1, but foot deformi- ties and upper limb involvement are less frequent. Extended Phenotype On clinical examination, it is often difficult to dis- tinguish CMT1 from CMT2. Electrophysiology Classically, CMT and related neuropathies are dis- reveals normal or mildly reduced motor NCV with orders of the peripheral nervous system. If a patient reduced sensory nerve action potentials. Nerve exhibits symptoms and signs of central nervous biopsy shows preferential loss of large myelinated system or systemic involvement, CMT is not likely. fibers without signs of demyelination. However, genotype–phenotype correlations have shown that other neurological and extraneurological Hereditary Neuropathy With Liability signs can be part of the clinical phenotype with muta- to Pressure Palsies tions in CMT genes. These include tremor, ataxia, Patients present with recurrent episodes of iso- glaucoma, cranial nerve involvement, scoliosis, and lated mononeuropathies after relatively minor perhaps neutropenia. These findings do not preclude trauma, traction, or compression. The most fre- molecular testing for CMT. Furthermore, such fea- quently affected nerves in descending order are the tures may point to the involvement of a specific gene common peroneal, ulnar, radial, and median nerves. and thus help direct molecular diagnostic testing. Electrophysiological findings include nearly normal Tremor is part of the RLS (Planté-Bordeneuve NCV with focal slowing in the ulnar nerve across et al., 1999) and can be associated with mutations the elbow and the peroneal nerve around the fibu- in MPZ, GJB1, and the CMT1Aduplication (Harding lar head (Li et al., 2004). Concomitant with the palsies and Thomas, 1980; Thomas et al., 1997; Auer- conduction blocks are found contributing to confu- Grumbach et al., 1998; Garcia, 1999; Senderek
Load more

Recommended publications
  • Hereditary Hypertrophic Neuropathy Combining Features of Tic Douloureux, Charcot- Marie-Tooth Disease, and Deafness
    Hereditary hypertrophic neuropathy combining features of tic douloureux, Charcot- Marie-Tooth disease, and deafness Hereditary hypertrophic sensorimotor poly- neuropathy combining the features of Charcot- Marie-Tooth disease, trigeminal neuralgia, and Robert P. Cruse, D.O. deafness occurred through four generations of John P. Conomy, M.D. a family originating in Haywood County, North Asa J. Wilbourn, M.D. Carolina. Fourteen individuals had pes cavus, Maurice R. Hanson, M.D. distal muscle atrophy, depressed or absent mus- cle stretch reflexes, cutaneous sensory deficits, Department of Neurology and defective proprioception. Six family mem- bers had recurrent, lancinating, trigeminal pain, and seven were deaf. The family was brought under scrutiny when the propositus, a 60-year-old woman, was examined for treat- ment of tic douloureux. Neurologic informa- tion was ultimately obtained regarding 52 family members. No history of consanguinity could be ascertained within this kinship. The genealogy of the family we studied is presented in Figure 1. In addition to clinical neurologic examinations, electromyographic and nerve conduction stud- ies were obtained on those individuals indicated in the genealogy diagram. Audiometric studies were obtained when there was clinical indication of defective hearing. Quantitative cutaneous sensory testing was obtained in the propositus. 107 Downloaded from www.ccjm.org on October 1, 2021. For personal use only. All other uses require permission. 108 Cleveland Clinic Quarterly Vol. 44, No. 3 ' • CMT a TIC Deaf CMT He Examined MS f Died O Not Affected 0 D led before age onset (O Multiple normal d1 ond j si be. -1—i Two Marriages —Indicates number of slbs.
    [Show full text]
  • Cerebellar Ataxia
    CEREBELLAR ATAXIA Dr. Waqar Saeed Ziauddin Medical University, Karachi, Pakistan What is Ataxia? ■ Derived from a Greek word, ‘A’ : not, ‘Taxis’ : orderly Ataxia is defined as an inability to maintain normal posture and smoothness of movement. Types of Ataxia ■ Cerebellar Ataxia ■ Sensory Ataxia ■ Vestibular Ataxia Cerebellar Ataxia Cerebrocerebellum Spinocerebellum Vestibulocerebellum Vermis Planning and Equilibrium balance Posture, limb and initiating and posture eye movements movements Limb position, touch and pressure sensation Limb ataxia, Eye movement dysdiadochokinesia, disorders, Truncal and gait Dysmetria dysarthria nystagmus, VOR, ataxia hypotonia postural and gait. Gait ataxia Types of Cerebellar Ataxia • Vascular Acute Ataxia • Medications and toxins • Infectious etiologies • Atypical Infectious agents • Autoimmune disorders • Primary or metastatic tumors Subacute Ataxia • Paraneoplastic cerebellar degeneration • Alcohol abuse and Vitamin deficiencies • Systemic disorders • Autosomal Dominant Chronic • Autosomal recessive Progressive • X linked ataxias • Mitochondrial • Sporadic neurodegenerative diseases Vascular Ataxia ▪ Benedikt Syndrome It is a rare form of posterior circulation stroke of the brain. A lesion within the tegmentum of the midbrain can produce Benedikt Syndrome. Disease is characterized by ipsilateral third nerve palsy with contralateral hemitremor. Superior cerebellar peduncle and/or red nucleus damage in Benedikt Syndrome can further lead in to contralateral cerebellar hemiataxia. ▪ Wallenberg Syndrome In
    [Show full text]
  • Spinocerebellar Ataxia Type 29 Due to Mutations in ITPR1: a Case Series and Review of This Emerging Congenital Ataxia Jessica L
    Zambonin et al. Orphanet Journal of Rare Diseases (2017) 12:121 DOI 10.1186/s13023-017-0672-7 RESEARCH Open Access Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Jessica L. Zambonin1*, Allison Bellomo2, Hilla Ben-Pazi3, David B. Everman2, Lee M. Frazer2, Michael T. Geraghty4, Amy D. Harper5, Julie R. Jones2, Benjamin Kamien6, Kristin Kernohan1,4, Mary Kay Koenig7, Matthew Lines4, Elizabeth Emma Palmer8,9, Randal Richardson10, Reeval Segel11, Mark Tarnopolsky12, Jason R. Vanstone4, Melissa Gibbons13, Abigail Collins14, Brent L. Fogel15, Care4Rare Canada Consortium, Tracy Dudding-Byth16 and Kym M. Boycott1,4 Abstract Background: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. Results: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family. We describe the genetic, clinical and neuroimaging features of these patients to further characterize the clinical features of this rare condition and assess for any genotype-phenotype correlation for this disorder. Our cohort consisted of 9 males and 12 females, with ages ranging from 28 months to 49 years. Disease course was non-progressive with infantile-onset hypotonia and delays in motor and speech development. Gait ataxia was present in all individuals and 10 (48%) were not ambulating independently between the ages of 3–12 years of age.
    [Show full text]
  • Diagnostic Clues in Multiple System Atrophy
    DO I:10.4274/Tnd.82905 Case Report / Olgu Sunumu Diagnostic Clues in Multiple System Atrophy: A Case Report and Literature Review Multisistem Atrofi Tanısında İpuçları: Bir Olgu Sunumu ve Literatürün Gözden Geçirilmesi Mehmet Yücel, Oğuzhan Öz, Hakan Akgün, Semai Bek, Tayfun Kaşıkçı, İlter Uysal, Yaşar Kütükçü, Zeki Odabaşı Gülhane Military Medical Academy, Ankara, Turkey Sum mary Multiple system atrophy (MSA) is an adult-onset, sporadic, progressive neurodegenerative disease. Based on the consensus criteria, patients with MSA are clinically classified into cerebellar (MSA-C) and parkinsonian (MSA-P) subtypes. In addition to major diagnostic criteria including poor response to levodopa, and presence of pyramidal or cerebellar signs (ataxia) or autonomic failure, certain clinical features or ‘‘red flags’’ may raise the clinical suspicion for MSA. In our case report we present a 67-year-old female patient admitted to our hospital due to inability to walk, with poor response to levodopa therapy, whose neurological examination revealed severe Parkinsonism, ataxia and who fulfilled all criteria for MSA, as rarely seen in clinical practice.(Turkish Journal of Neurology 2013; 19:28-30) Key Words: Multiple system atrophy, autonomic failure, diagnostic criteria Özet Multisistem atrofi (MSA) erişkin dönemde başlayan, ilerleyici, nedeni bilinmeyen sporadik nörodejeneratif bir hastalıktır. MSA kabul görmüş tanı kriterlerine göre klinik olarak serebellar (MSA-C) ve parkinsoniyen (MSA-P) alt tiplerine ayrılmaktadır. Düşük levadopa yanıtı, piramidal, serebellar bulguların (ataksi) ya da otonomik bozukluk olması gibi majör tanı kriterlerininin yanında “red flags” olarak isimlendirilen belirgin klinik bulgular ya da uyarı işaretlerinin olması MSA tanısı için klinik şüpheyi oluşturmalıdır. Olgu sunumunda 67 yaşında yürüyememe şikayeti ile polikliniğimize müracaat eden ve levadopa tedavisine düşük yanıt gösteren ciddi parkinsonizm bulguları ile ataksi bulunan kadın hasta MSA tanı kriterlerini tam olarak karşıladığı ve klinik pratikte nadir görüldüğü için sunduk.
    [Show full text]
  • Efficacy of Rhythmic Auditory Stimulation on Ataxia and Functional Dependence Post- Cerebellar Stroke" (2020)
    Yale University EliScholar – A Digital Platform for Scholarly Publishing at Yale Yale School of Medicine Physician Associate Program Theses School of Medicine 5-22-2020 Efficacy of Rhythmicudit A ory Stimulation on Ataxia and Functional Dependence Post-Cerebellar Stroke Kaitlin Fitzgerald Yale Physician Associate Program, [email protected] Follow this and additional works at: https://elischolar.library.yale.edu/ysmpa_theses Recommended Citation Fitzgerald, Kaitlin, "Efficacy of Rhythmic Auditory Stimulation on Ataxia and Functional Dependence Post- Cerebellar Stroke" (2020). Yale School of Medicine Physician Associate Program Theses. 13. https://elischolar.library.yale.edu/ysmpa_theses/13 This Open Access Thesis is brought to you for free and open access by the School of Medicine at EliScholar – A Digital Platform for Scholarly Publishing at Yale. It has been accepted for inclusion in Yale School of Medicine Physician Associate Program Theses by an authorized administrator of EliScholar – A Digital Platform for Scholarly Publishing at Yale. For more information, please contact [email protected]. EFFICACY OF RHYTHMIC AUDITORY STIMULATION ON ATAXIA AND FUNCTIONAL DEPENDENCE POST-CEREBELLAR STROKE A Thesis Presented to The Faculty of the School of Medicine Yale University In Candidacy for the degree of Master of Medical Science May 2020 Kaitlin Fitzgerald, PA-SII Dr. Diana Richardson, MD Class of 2020 Assistant Clinical Professor Yale Physician Associate Program. Yale School of Medicine, Neurology i Table of Contents ABSTRACT
    [Show full text]
  • Cognitive Impairments in Patients with Congenital Nonprogressive Cerebellar Ataxia
    1/26/2011 Cognitive impairments in patients with… Articles Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia Maja Steinlin, MD, Marianne Styger, LicPhil and Eugen Boltshauser, MD + Author Affiliations Address correspondence and reprint requests to Dr. Maja Steinlin, Division of Neurology, University Children’s Hospital, Inselspital, 3010 Bern, Switzerland; e-mail: [email protected] Abstract Objective: To report neuropsychologic functions and developmental problems of patients with congenital nonprogressive cerebellar ataxia. Background: Growing interest in cerebellar function has prompted closer attention to cognitive impairments in patients with cerebellar damage. Methods: The authors studied 11 patients with nonprogressive congenital ataxia (NPCA) with Wechsler’s intelligence testing, with additional tests of attention, memory, language, visual perception, and frontal functions. Results: Seven of the 11 patients had an IQ of 60 to 92, with marked nonverbal deficits and subnormal to normal verbal performance (group A). Four patients had an IQ of 30 to 49 without pronounced profile asymmetry (group B). Four of the 7 group A patients had decreased alertness and sustained attention, but all had normal selective attention. Tests of frontal functions and memory yielded higher verbal scores than nonverbal scores. There was no deficit on the Aachener Naming Test (similar to the Boston Naming Test), because there were marked difficulties in the majority with visuoconstructive tasks and visual perception. Group B was significantly abnormal in almost all subtests, having a less prominent but similar profile. Conclusion: Patients with NPCA have significant cognitive deficits with an asymmetric profile and better verbal than nonverbal performance. Effects on nonverbal performance of longstanding deficits in visuospatial input during learning, the influence of impaired procedural learning, and asymmetric plasticity of the cerebral hemispheres may contribute to this uneven neuropsychological profile.
    [Show full text]
  • Trigeminal Isolated Sensory Neuropathy (TISN) and FOSMN
    Cruccu et al. BMC Neurology (2014) 14:248 DOI 10.1186/s12883-014-0248-2 RESEARCH ARTICLE Open Access Trigeminal isolated sensory neuropathy (TISN) and FOSMN syndrome: despite a dissimilar disease course do they share common pathophysiological mechanisms? Giorgio Cruccu1*, Elena M Pennisi2, Giovanni Antonini3, Antonella Biasiotta1, Giulia di Stefano1, Silvia La Cesa1, Caterina Leone1, Salvatore Raffa4, Claudia Sommer5 and Andrea Truini1 Abstract Background: Patients presenting with bilateral trigeminal hypoesthesia may go on to have trigeminal isolated sensory neuropathy, a benign, purely trigeminal neuropathy, or facial-onset sensory motor neuronopathy (FOSMN), a malignant life-threatening condition. No diagnostic criteria can yet differentiate the two conditions at their onset. Nor is it clear whether the two diseases are distinct entities or share common pathophysiological mechanisms. Methods: Seeking pathophysiological and diagnostic information to distinguish these two conditions at their onset, in this neurophysiological and morphometric study we neurophysiologically assessed function in myelinated and unmyelinated fibres and histologically examined supraorbital nerve biopsy specimens with optic and electron microscopy in 13 consecutive patients with recent onset trigeminal hypoesthesia and pain. Results: The disease course distinctly differed in the 13 patients. During a mean 10 year follow-up whereas in eight patients the disease remained relatively stable, in the other five it progressed to possibly life-threatening motor disturbances and extra-trigeminal spread. From two to six years elapsed between the first sensory symptoms and the onset of motor disorders. In patients with trigeminal isolated sensory neuropathy (TISN) and in those with FOSMN neurophysiological and histological examination documented a neuronopathy manifesting with trigeminal nerve damage selectively affecting myelinated fibres, but sparing the Ia-fibre-mediated proprioceptive reflex.
    [Show full text]
  • Ataxia Digest
    Ataxia Digest 2015 Vol. 2 News from the Johns Hopkins Ataxia Center 2016 What is Ataxia? Ataxia is typically defined as the presence of Regardless of the type of ataxia a person may have, it abnormal, uncoordinated movements. This term is is important for all individuals with ataxia to seek proper most often, but not always, used to describe a medical attention. For the vast majority of ataxias, a neurological symptom caused by dysfunction of the treatment or cure for the disease is not yet available, so cerebellum. The cerebellum is responsible for many the focus is on identifying symptoms related to or motor functions, including the coordination of caused by the ataxia. By identifying the symptoms of voluntary movements and the maintenance of balance ataxia it becomes possible to treat those symptoms and posture. through medication, physical therapy, exercise, other therapies and sometimes medications. Those with cerebellar ataxia often have an “ataxic” gait, which is walking The Johns Hopkins Ataxia Center has a that appears unsteady, uncoordinated multidisciplinary clinical team that is dedicated to and staggered. Other activities that helping those affected by ataxia. The center has trained require fine motor control like writing, specialist ranging from neurologists, nurses, reading, picking up objects, speaking rehabilitation specialists, genetic counselors, and many clearly and swallowing may be others. This edition of the Ataxia Digest will provide abnormal. Symptoms vary depending you with information on living with ataxia and the on the cause of the ataxia and are multidisciplinary center at Johns Hopkins. specific to each person. Letter from the Director Welcome to the second edition of the Ataxia Digest.
    [Show full text]
  • Neuropathic Orofacial Pain the Brochure Is Provided Compliments Of
    Neuropathic_Pain_Brochure_Neuropathic_Pain_Brochure 6/9/2010 11:41 AM Page 1 Neuropathic orofacial paiN The brochure is provided compliments of This brochure in intended for informational purposes only and should be considered a replacement for a professional treatment for a health care professional. To locate knowledgeable and experienced expert in orofacial pain, contact: The American Academy of Orofacial Pain 174 S. New York Ave. POB 478 Oceanville, NJ 08231 P: 609-504-1311 E: [email protected] W: www.aaop.org To locate knowledgeable and experienced expert in Trigeminal Neuralgia, contact: Trigeminal Neuralgia Association 2801 SW Archer Road Gainesville, FL 32608 P: 352-376-9955 E: [email protected] W: www.tna-support.org Neuropathic_Pain_Brochure_Neuropathic_Pain_Brochure 6/9/2010 11:41 AM Page 3 coNteNts 1-Neuropathic orofacial paiN 4-GettiNG help/What to expect 6-commoN Neuropathic orofacial paiN DisorDers aND their treatmeNt 6 - triGem iNal NeuralGia 8 - pre-triGem iNal NeuralGia 9 - atypical oDoNtalGia (phaNtom tooth paiN) 10 - chroNic reGioNal paiN syNDrome 12 - iN coNclusioN Neuropathic_Pain_Brochure_Neuropathic_Pain_Brochure 6/9/2010 11:41 AM Page 4 Neuropathic orofacial paiN Of the many pains that can effect the head and neck, perhaps the most confusing and difficult to diagnose are a group of maladies called Neuropathic Orofacial Pain Disorders. These neuropathic pain disorders are often chronic and arise from the brain and nerves of the head, face and neck. If you have experienced the frustration of having a toothache or face pain and, after seeing many doctors, still don't know where the pain is coming from, Brain you may be suffering from a neuropathic pain Spinal Cord disorder.
    [Show full text]
  • Children with Ataxia in Conductive Education
    Central Journal of Neurological Disorders & Stroke Short Communication *Corresponding author Erzsébet Balogh, International Pető Association, András Pető College, Gizella út 1. 1143 Budapest, Hungary, Tel: Children with Ataxia in Conductive 003613837255; Email: [email protected] Submitted: 16 September 2020 Education Accepted: 29 September 2020 Published: 30 September 2020 1 2 Erzsébet Balogh * and Éva Feketéné Szabó ISSN: 2334-2307 1International Pető Association, András Pető College, Hungary Copyright 2 András Pető College, Semmelweis University, Hungary © 2020 Balogh E, et al. OPEN ACCESS Abstract Impaired coordination caused by cerebral, cerebellar or spinal impairment, with hypoxic or Keywords genetic causes, answer to the Pető’s conductive education quite fair. It might mean the most favorable • Pető method facilitation for developmental processes and by the so called structural cerebellar reserve or by • Conductive education extra-cerebellar parts of the brain. • Ataxia ABBREVIATIONS CP: Cerebral Palsy; CE: Conductive Education induced abnormal coordination test, become increasingly INTRODUCTION successful with repeated new trials – even in a few minutes. Some elements of classical neurological tests for coordination adapted An accumulation of children with ataxia can be observed in to age can be used extremely advantageously in rehabilitation, conductive educational services worldwide. including conductive education (CE), e.g. imitated play – finger MATERIALS AND METHODS movements on imaginary piano keys, rhythmic, bilateral synchronous or alternating movement series. These are applied facilitationalso in Pető’s tool CE in which CE is usescalled holistic, rhythmical pedagogical intention, tools intention for the global upbringing of infants and children [5,6]. The most powerful Based on the files of previously assessed children with ataxia will be create soon special conductive educational groups.
    [Show full text]
  • Trigeminal Neuralgia – Diagnosis and Treatment
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Archivio della ricerca- Università di Roma La Sapienza Review Cephalalgia 2017, Vol. 37(7) 648–657 ! International Headache Society 2017 Trigeminal neuralgia – Reprints and permissions: sagepub.co.uk/journalsPermissions.nav diagnosis and treatment DOI: 10.1177/0333102416687280 journals.sagepub.com/home/cep Stine Maarbjerg1, Giulia Di Stefano2, Lars Bendtsen1 and Giorgio Cruccu2 Abstract Introduction: Trigeminal neuralgia (TN) is characterized by touch-evoked unilateral brief shock-like paroxysmal pain in one or more divisions of the trigeminal nerve. In addition to the paroxysmal pain, some patients also have continuous pain. TN is divided into classical TN (CTN) and secondary TN (STN). Etiology and pathophysiology: Demyelination of primary sensory trigeminal afferents in the root entry zone is the predominant pathophysiological mechanism. Most likely, demyelination paves the way for generation of ectopic impulses and ephaptic crosstalk. In a significant proportion of the patients, the demyelination is caused by a neurovascular conflict with morphological changes such as compression of the trigeminal root. However, there are also other unknown etiological factors, as only half of the CTN patients have morphological changes. STN is caused by multiple sclerosis or a space-occupying lesion affecting the trigeminal nerve. Differential diagnosis and treatment: Important differential diagnoses include trigeminal autonomic cephalalgias, posttraumatic or postherpetic pain and other facial pains. First line treatment is prophylactic medication with sodium channel blockers, and second line treatment is neurosurgical intervention. Future perspectives: Future studies should focus on genetics, unexplored etiological factors, sensory function, the neurosurgical outcome and complications, combination and neuromodulation treatment as well as development of new drugs with better tolerability.
    [Show full text]
  • 1 United States District Court Eastern District Of
    UNITED STATES DISTRICT COURT EASTERN DISTRICT OF TENNESSEE AT CHATTANOOGA JOHANNA DETERDING, ) ) Plaintiff, ) ) v. ) Case No:1:11-CV-13 ) Collier/Carter MICHAEL S. ASTRUE, ) Commissioner of Social Security, ) ) Defendant. ) REPORT AND RECOMMENDATION This action was instituted pursuant to 42 U.S.C. '' 405(g) and 1383(c)(3) seeking judicial review of the final decision of the Commissioner denying the plaintiff a period of disability, disability insurance benefits, and supplemental security income under Title II and Title XVI of the Social Security Act, 42 U.S.C. '' 416(I), 423, and 1382. 1 This matter has been referred to the undersigned pursuant to 28 U.S.C. ' 636(b) and Rule 72(b) of the Federal Rules of Civil Procedure for a report and recommendation regarding the disposition of plaintiff's motion for judgment on the pleadings (Doc. 11) and defendant=s motion for summary judgment (Doc. 17 ). For the reasons stated herein, I RECOMMENDED the Commissioner=s decision be REVERSED and REMANDED pursuant to Sentence Four of 42 U.S.C. ' 405(g). 1Since the relevant DIB and SSI regulations cited herein are virtually identical, citations will only be made to the DIB regulations, found at 20 C.F.R. '' 404.1500-404.1599. The parallel SSI regulations are found at 20 C.F.R. '' 416.900-416.999, corresponding to the last two digits of the DIB cites (e.g., 20 C.F.R. ' 404.1545 corresponds with 20 C.F.R. ' 416.945). 1 Case 1:11-cv-00013-CLC-WBC Document 19 Filed 02/02/12 Page 1 of 25 PageID #: <pageID> + Plaintiff's Age, Education, and Past Work Experience Plaintiff had a high-school education, along with three years of college, and was 40 years old at the time of her February 2009 hearing (Tr.
    [Show full text]