Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1176, Ropper, A.H.,et al, 2014
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Neurological,Cardiological,and Oculomotor Progression in 104 Patients with Freidreich Ataxia During Long-Term Follow-Up
Arch Neurol 64:558-564, Rabai,P.,et al, 2007
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Friedreich Ataxia
Arch Neurol 59:743-747, Lynch,D.R.,et al, 2002
Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001
Isolated Vitamin E Deficiency
Muscle & Nerve 19:1161-1165996., Jackson,C.E.,et al, 1996
Levorotatory Form of 5-Hydroxytryptophan in Friedreich's Ataxia
Arch Neurol 52:456-460, Trouillas,P.,et al, 1995
Double-Blind Study with Levorotatory form of Hydroxytryptophan in Pts with Degen Cerebellar Dis
Arch Neurol 52:451-455, 4401995., Wessel,K.,et al, 1995
Spinocerebellar Ataxias and Ataxins
NEJM 333:1351-1353, Rosenberg,R.N., 1995
Dopa-Responsive parkinsonism Phenotype of Machado-Jospeh Disease:Confirmation of 14q CAG Expansion
Ann Neurol 48:684-687, Tuite,P.J.,et al, 1995
Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
NEJM 333:1313-1318, 13511995., Gotoda,T.,et al, 1995
Effect of Sulfamethoxazole & Trimethoprim on Neurologic Dysfunction in a Patient with Joseph's Disease
Arch Neurol 45:210-213, Mello,K.A.&Abbott,B.P., 1988
Sleep Apnea in Olivopontocerebellar Degeneration:Treatment with Trazodone
Ann Neurol 23:399-401, Salazar-Grueso,E.F.,et al, 1988
The Treatment of Friedreich's Ataxia with Amantadine Hydrochloride
Neurol 38:1478-1480, Peterson,P.L.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Physostigmine in Familial Ataxias
Neurol 27:70, Kark,R.A.,et al, 1977
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 67 YEar-Old Woman with Progressive Headache, Visual Hallucinations, and Seizures
Neurol 104:e213496, Gheihman,G.,et al, 2025
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia
Neurol 105:e214381, Gomez,A.C.et al, 2025
A Randomized Trial of Shunting for Idiopathic Normal-Pressure Hydrocephalus
NEJM 393:2198-2209, 2264, Luciano,M.G.,et al, 2025
A 50-Year-Old Male Patient With Acute Severe Sensory Deafferentation and Bilateral Ptosis with Rapid Recovery
Neurol 106:e214435, Pseruk,F.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids:A Potentially Overlooked Diagnosis
Ann Neurol 95:407-409, Tsibonakis,A.,et al, 2024
Posttransplant Anti-GABAA Receptor Antibody-Associated Autoimmune Encephalitis
Neurol 102:e209245, Togni,C.L.,et al, 2024
Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
JAMA Neurol 8:418-419, Liu,M.,et al, 2024
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Pachymeningitis and Aortitis as the Initial Presentation of Granulomatosis with Polyangiitis
Neurol 101:979-980, Li,X.,et al, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
A 57-Year-Old Man with Stepwise Progressive Paraparesis, Sensory Loss, Urinary Retention, and Constipation
Neurol 98:e555-e560, Alkabie, S.,et al, 2022
Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
A 55-Year-Old Woman with Recurrent Episodes of Aphasia and Vision Changes
Neurol 98:330-335, Jeanneret, V.,et al, 2022
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
A 37-Year-Old Man with Involuntary Movements, Gait Disturbance, and Hyperasthesia
Neurol 98:851-853, Meng, D.,et al, 2022
An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022
Functional Neurological Disorders
Neurologist 27:276-289, Mishra, A. & Pandey, S., 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Paraneoplastic Myeloneuropathies
Neurol 96:e632-e639, Shah, S.,et al, 2021
Clinicopathologic Conference, Disseminated Mycobacterium Bovis Infection
NEJM 384:651-662, Case 5-2021, 2021
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021