Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
National Institute of Neurological Disorders and Stroke Consensus Diagnostic Criteria for Traumatic Encephalopathy Syndrome
Neurol 96:848-863, Katz, D.I.,et al, 2021
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Sporadic Creutzfeldt-Jakob Disease in a Very Young Person
Neurol 97:813-816,801, Appleby, B.S.,et al, 2021
Childhood Primary Angiitis of the Central Nervous System
www.UptoDate.com, Dec, Twilt, M. & Benseler, S., 2019
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
Diagnosing variant Creutzfeldt-Jakob disease: a retrospective analysis of the first 150 cases in the UK
JNNP 82:646-651, Heath, C.A.,et al, 2011
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997
Comparison of Extrapyramidal Features in 31 Path Cases of Diffuse Lewy Body Disease & 34 Cases of Parkinson's
Neurol 48:376-380, Louis,E.D.,et al, 1997
New Variant Creutzfeldt-Jakob Disease:Neurological Features and Diagnostic Tests
Lancet 350:903-907, Zeidler,M.,et al, 1997
A New Variant of Creutzfeldt-Jakob Disease in the UK
Lancet 347:921-925, 915, 916, 91796., Will,R.G.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Dementia in 2 Histologically Confirmed Cases of MS:One Isolated Dementia & One Assoc with Psychiatric Symptoms
JNNP 57:353-359, Fontaine,B.,et al, 1994
Epilepsy
JNNP 57:264-277, Chadwick,D., 1994
Acute Behaviour Disturbances
JNNP 56:1149-1156, Lloyd,G.G., 1993
Small Infarctions of Cochlear, Retinal, and Encephalic Tissue in Young Women
Stroke 23:903-907, Schwitter,J.,et al, 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Murder, Insanity, and Medical Expert Witnesses
ARch Neurol 49:608-611, Ciccone,J.R., 1992
HIV Encephalopathy and Dementia
Psychiatr Clin North Am 15:455-466, Pajeau,A.K.&Roman,G.C., 1992
Causalgia and Other Reflex Sympathetic Dystrophies
In the Management of Pain, Lea & Febiger, Phila, p. 220, Bonica,J.J., 1990
The Acquired Immunodeficiency Syndrome (AIDS) Dementia Complex
Ann Int Med 111:400-410, Ho,D.D.,et al, 1989
Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988
Meningovascular Syphilis: CT and MR Findings
Radiology 158:439-442, Holland,B.A.,et al, 1986
A Microangiopathic Syndrome of Encephalopathy, Hearing Loss & Retinal Arteriolar Occlusions
Neurol 35:1113-1121, Monteiro,M.L.R.,et al, 1985
Capgras Syndrome:A Reduplicative Phenomenon
Neurol 29:334-339, Alexander,M.P.,et al, 1979
Thromboangiitis Obliterans Cerebri
Edited by, Vinken, E. , Handbook Clinical Neurol 12:3842., Bernsmeier,A.&Held,K., 1972
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 68-YEar-Old Man with Progressive Numbness, Vertigo, and Cognitive Decline
Neurol 104:e213437, Regan,S.M. & Davalos,L.F., 2025
Unveiling the Clinical and Imaging Signatures of Intravascular Lymphoma of the Central Nervous System:A Multicentric Cohort Study
Ann Neurol 97:435-448, Berthet,E.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
Cureus doi:10.7759/CUREUS.32182, Sweedan,Y.G.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Uncommon Causes of Nontraumatic Intracerebral Hemorrhage
Stroke 55:1416-1427, Tartarin,H.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
A 72-Year-Old Woman with Rapidly Progressive Bilateral Hearing Loss
Neurol 98:632-637, Alsalem, A.,et al, 2022
Neuroimaging Biomarkers in a Patient with Probable Psychiatric-Onset Prodromal Dementia with Lewy Bodies
Neurol 99:654-657, Urso, D.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Hashimoto Encephalopathy in the 21st Century
Neurol 94:e217-e224, Mattozzi, S.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020