NEUROLOGY Retts syndrome: Girls only. Normal until MAOI. Bromocriptine/ pergolide: Degenerative Diseases 2yo then rapid regression. X-linked. stimulates D2, vasoconstriction, fibrosis Alzheimers: cortical & hippocampal Stereotyped hand movements (wringing, (bromocriptine is used for prolactinoma, atrophy > memory loss, aphasia, apraxia. tapping), hyperventilation, szs. No Tx. pergolide isn’t). Selegiline/ Eldypryl: ↓ Ach (N.B. of Meynert), NE, dopamine, Binswangers dz: HTN and dementia MAOI, slows progression; deprenyl: & serotonin. Chr 21 (Downs) (±14,19). Transient global amnesia: not seizures, MAOBI. Apolipoprotein E4/E4 ↑ # of plaques, probably 2° to transient ischemia of Parkinsonism: 80% Parkinsons disease, early onset. mesial temporal lobe. 10% Parkinsons-Plus (MSA, PSP, CBGD, Path: Neurofibrillary tangles: τ protein. Movement Disorders diffuse lewy body dz), 10% secondary. Neuritic plaques: βamyloid protein. Both: Tremors: physiologic: 8-13Hz, awake (drugs: neuroleptics, reserpine, Ca-channel cytoplasmic, silver stained, paired helical and asleep. Pathologic 4-7Hz, awake blockers, lithium) filaments. Granulovacular degeneration: only. Parkinsons: rest. Intention: PSP: downgaze palsy, pseudobulbar, gait dark cytoplasmic granules w/clear halo in cerebellar. palsy, eyelid freezing, no tremor, neurons. No gliosis. Essential: action, some familial, improves symmetric. MR: atrophy of midbrain & Tx: donepezil, tacrine w/alcohol, propanalol. tectum. 70yos. No Tx. (acetylcholinesterase inhibitors, slow Dystonia: Twisting/writhing movements, Multiple system atrophy = Parkinsons- progression). Vitamin E & selegiline stopped by touching affected area. Plus, poor response to DA, lack Lewy (MAOI, delay NH placement, not Idiopathic or secondary. Tx: L-dopa, bodies. Dx: Glial (esp. oligodendroglial) cognitive decline). anticholinergics. Thalamotomy. cytoplasmic inclusion bodies. Includes: CJD: prion infects oligodendroglia. Focal: Torticollis, blepharospasm, writers Striatonigral degeneration: syncope, Spongiform encephalopathy. Path: loss of cramp. Tx: botox stridor. Putamen atrophy cerebellar granule & purkinje cells, Tardive dyskinesia: Stereotyped Olivopontocerebellar atrophy: AD, Chr 6, atrophy. Gliosis (none in Alzheimers). No orolingual movement or dystonia. Caused 15yo, LE ataxia, atrophy middle cerebral inflammation. CSF WNL (14-3-3 by phenothiazines ↓ dopamine. peduncle proteinase inhibitor protein specific). Prevent/Tx: Reserpine, anticholinergics Shy-Drager: autonomic probs, impotence, Dementia, myoclonus, spasticity, (trihexyphenydil/Artane, benadryl.) no lewy bodies(?); loss in putamen, SN, & cerebellar & visual/oculomotor problems. Phenothiazines (& Reglan) may also interomediolateral horn cells 100% fatal. Normal protein PrPc on Chr cause parkinsonism, acute dystonic Corticalbasal Degeneration (CBD): 20, converted from α helix to β pleated reaction. Parkinsonism, cortical signs (apraxia, sheet by prion. 10% familial (have mutant Hemiballismus: thalamoperforators, myoclonus) and alien limb. No Tx, PrP in neurons & lymphocytes). EEG 1-2 contralateral STN etiology unknown. Chorea gravidarium: resolves post- Hz spikes, triphasic waves. MRI: ↑T2 Palatal myoclonus: central tegmental pregnancy signal in BG. Dx: Bx. Tx: 1) autoclave at tract or Mollaret’s triangle (red nucleus Meige’s syndrome: facial dystonia 250°F (132°C) at 20PSI for 1hr, 2) bleach, >< inferior olive >< dentate nucleus), (blinking, tongue thrust, etc) idiopathic 3)NaOH x 1hr . Transmitted from cadaver persists during sleep (not phenothiazines) Women, 60yo, Tx: GH injections. Parkinsons: Etiology unknown. ↓ Botox. Huntingtons: chorea, demetia, family Hx. neurons in SNpc, DMN vagus & locus Restless Legs: in uremia, DM etc. Occurs Personality change 1st, increased blinking, ceruleus. Lewy bodies (eosinophilic at night. Tx: Klonopin, Neurontin, L-dopa. abnormal eye mvmt. Caudate/putamen intracytoplasmic inclusions w/ halo). Rest Neuroleptics, caffeine, Ca-channel atrophy > boxcar ventricles. AD, CAG tremor, bradykineasia, cogwheel rigidity (micrographia, ↓ blink, masked facies, blockers worsen. repeat in huntingtin, chr 4. ↑ dopamine, Wilsons disease: Parkinsonism/ bulbar NE, somatostatin (vs AlzDz); ↓ GABA, festinating gain, pain in 50%, GI problems, dysautonomia, weight loss, signs/ dystonia/ ataxia/ psych probs. Wing- Ach. L-dopa worsens. beating” tremor. ↓ ceruloplasmin, ↓ serum Westphal variant: <20yo, more asymmetric). 20% have dementia. Dx: copper; ↑ urine copper; AR, chr 13; liver aggressive, seizures, parkinsonism. clinical. biopsy best; Kayser-Fleischer rings; Subcortical dementia: No aphasia, Tx: Surgical: lesion contralateral VL or hepatolenticular degeneration; Liver apraxia, or amnesia (memory OK). Seen Gpi (best for tremor/ rigidity/ fibrosis, Renal tubular acidosis (metabolic w/Parkinsons & Huntingtons dyskinesias); Vim = tremor, unilateral acidosis). Decreased blink, arm swing (like Picks: frontal/ temporal, balloon only (dysarthria), STN = bradykinesia. parkinsons) Alzheimer II & Opalski cells (“Picks”) cells (neurons, tau+), neuron 80% improve. DBS can be done in GP. Hypodense BG; Tx: penicillamine loss in cerebral cortex, gliosis, cortical bilaterally. (w/B6 to prevent anemia), ↓ dietary copper spongiosis. Younger. Arithmetic Fetal mesencephalic transplantation into Hallervorden-Spatz: cysteine preserved. Rare familial form, Chr17. SN caused dyskinesias, some Tauopathies: tau is a MAP, Chr 17. improvement <60yo. Adrenal medullary dioxygenase deficency. ↑ cysteine, Picks, CBD, PSP, Alzheimers, transplant abandoned. chelates iron > free radicals. Iron in basal Ubiquitin: binds abnormal proteins for Medical: ganglia; no serum test; ↓ T2 “eye of the transfer to lysosomes. Stains in benztropin (Cogentin)/ Artane: tiger” pallidum & substantia nigra; No Tx Parkinsons (Lewy bodies), Huntingtons, anticholinergics. Amantadine: releases Tourettes: AD. <21yo. >1yr sxs. Normal Alzheimers, & others dopamine, loses effect. Sinemet: dopa + IQ. Dopamine reuptake defect (VTA to carbidopa, dopa decarboxylase inhibitor, αSynuclein: structural protein, forms anterior cingulate pathway). Tx: Haldol. 2nd tier. SE: N/V, orthostatis, arrythmias, Lewy bodies (Parkinsons) on-off periods, dyskinesias (Tx B6). CI: Hereditary ataxias: with actin), fiber necrosis, face spared, invovles cranial mm, no ↑ serum K, Tx: Friedrichs ataxia: Chr 9 (protein CHF, woman carriers ↑ CK. Tx: Na. Paramyotonia Congenita exercise & frataxin, GAA repeat), AR, <10yo, Prednisone (slows progression) cold worsens degeneration spinocerebellar Becker: X-linked, onset 12yo, no MR, Ca channel (Chr 1): Hypokalemic: tracts/cerebellum, post columns, dystrophin abnormal, no necrosis hypertrophy, Tx: daily KCl. corticospinal; spares MNs; ataxia, pes Becker & Duchenne: calf Polymyositis: painless, nontender. No cavus/scoliosis, arreflexia (due to pseudohypertrophy skin lesions. Dysphagia, dysphonia. Ocular neuropathy 2° to dorsal root ganglia dz), Facioscapularhumeral: Chr 4., AD, mm. not affected. ↑ CK. Adults. Muscle dysarthria, cardiomyopathy; 10% congenital absence of a muscle necrosis (T-cells) diabetes mellitus, optic atrophy/retinitis (pectoralis, brachialis, biceps), has Dermatomyositis: Butterfly (heliotrope) pigmentosa, no dementia. CSF normal; inflammatory cells (only 1); CK WNL, no periorbital rash & rash over knuckles MRI: normal cerebellum, small spinal necrosis, MR, CHF; hearing loss (Gottrons papules). Children & adults. cord; Tx: serotonin? Diff Dx: Vit E def. Emery-Dreifuss: early contractures elbow Moderate CK. B-cell perivascular Mental status normal. flexors & neck extensors & calf; X-linked, inflammation (humoral – immune Abetalipoproteinemia: peripheral benign complexes in walls of veins & arterioles), neuropathy, retinitis pigmentosa, ataxia, Myotonic: hand/muscle atrophy; myotonia perifasicular atrophy – no necrosis. dysarthria, acanthosis (abnormal RBCs), (preceeds weakness), frontal balding (men Antibodies/C3 increased. Both: Tx: ↓↓ cholesterol, triglycerides; & women), MR, cataracts, testicular steroids, females, 10% have cancer, spinocerebellar/post columns (resembles atrophy, cardiomyopathy. Chr 19, CTG UE/neck > LE, proximal. Friedrichs); children; Vit E slows repeats on “myotonin”, AD, congenital Inclusion Body myositis: chronic progression form always from mother (resolves), myopathy, >50yo. Quads/hand & feet Ataxia-Telangiectasia: Chr 14, AR, face/larynx etc. affected then distal flexors. CK mild. Bx: ubiquitin+ inclusion decreased IgA,G & E. Begins 2yo, ataxia, extremities, most common adult form; bodies, denervation. premature aging, gaze paresis, red eyes, EMG: dive-bomber (reptitive discarges Congenital myopathies: central-core OKN lost. ↑ AFP. Severe degeneration of w/minor stimulation) (related to malignant hyperthermia), cerebellar cortex, anterior horn, Myasthenia Gravis: Women < 40yo, nemaline demyelination in post coluns, Men >50yo w/thymoma. 10% have Issac’s syndrome: myokymia spinocerebellar, peripheral nerves. T-cell thymoma (60% of thymoma have MG), (w/myotonia, hyperhydrosis), K+ channel Leukemia/ lymphoma common. 66% thymic hyperplasia. 10% have no Abs > presynaptic hyperexcitability. 20- Hartnup’s Disease: AR, Defect in renal AchR-antibodies. Pupil response OK. 30s, M=F. Tx: Dilantin, Tegretol, IVIG, transport of neutral amino acids Tx: anticholinesterase (pyridostigmine) > pheresis. (tryptophan). Gait ataxia (triggered by Thymectomy (16-60yo best, 1/3 work Stiff-man syndrome: anti-GAD sunlight & sulfa), emotional lability, without thymoma due