Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
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
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Risk of Parkinson Disease Among Service Members at Marine Corps Base Camp Lejeune
JAMA Neurol 80:673-681, Goldman,S.M.,et al, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Non-Alzheimers Dementia 2 Lewy Body Dementias
Lancet 386:1683-1697, Walker, Z.,et al, 2015
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
Parkinsonism in HIV-Infected Patients on Highly Active Antiretroviral Therapy
Neurol 73:401-403, Tisch,S. &Brew,B., 2009
Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
Ann Neurol 24:692-694, Sethi,K.D.,et al, 1988
Late-Onset Hallervorden-Spatz Disease Presenting as Familial Parkinsonism
Neurol 35:227-234, Jankovic,J.,et al, 1985
Reversible Leukoencephalopathy and Parkinsonism Due to CNS Involvement in Cryoglobulinemia
Neurol 106:e214622, German,A.,et al, 2026
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neuroimaging Biomarkers in a Patient with Probable Psychiatric-Onset Prodromal Dementia with Lewy Bodies
Neurol 99:654-657, Urso, D.,et al, 2022
Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
Mol Genet Genomic Med 10:e1906, Vo,M.L.,et al, 2022
Rapidly Progressive Thalamic Dementia
Neurol 96:e809-e813, Rizzo, A.C.,et al, 2021
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019
Atypical Parkinsonian Syndromes: A General Neurologists Perspective
Eur J Neurol 25:41-58, Deutschlander, A.B.,et al, 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
Diagnosis and Management of Dementia with Lewy Bodies
Neurol 89:88-100, McKeith, I.G.,et al, 2017
MRI of the Swallow Tail Sign: A Useful Marker in the Diagnosis of Lewy Body Dementia?
AJNR 38:1737-1741, Shams, S.,et al, 2017
A 55-year-old Man with Rapidly Progressive Dementia and Parkinsonism
Neurol 89:e182-e187, Tabuas-Pereira, M.,et al, 2017
Atypical Presentations of Intracranial Hypotension: Comparison with Classic Spontaneous Intracranial Hypotension
AJNR 37:1256-1261, Capizzano, A.A.,et al, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Incidence and Pathology of Synucleinopathies and Tauopathies Related to Parkinsonism
JAMA Neurol 70:859-866, Savica, R.,et al, 2013
Acquired Neurosyphilis Presenting as Movement Disorders
Mov Disord 27:690-695, Shah, B.B. & Lang, A.E., 2012
The Spectrum of Mutations in Progranulin: A Collaborative Study Screening 545 Cases of Neurodegeneration
Arch Neurol 67:161-170,145, Yu,C.-E.,et al, 2010
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Tau Forms in CSF as a Reliable Biomarker for Progressive Supranuclear Palsy
Neurol 71:1796-1803, Borroni,B.,et al, 2008
A 75-Year-Old Man With Cognitive Impairment and Gait Changes, Lewy Body Disease
Neurol 69:1183-1189, Lippa,C.F.,et al, 2007
Clinicopath conf., Human Prion Disease, Sporadic CJD
Neurol 69:1881-1887, Geschwind,M.D., et al, 2007
Acute Reversible Hemi-Parkinsonism for a Diabetic Uremic Patient: Findings from MRI, MRS, FDG-PET, 99m Tc-TRODAT-1 SPECT, and TMS Studies
Ann Nucl Med Sci 20:51-57, Cheng, S.,et al, 2007
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Reversible Dementia with Parkinsonian Features Associated with Budesonide Use
Neurol 67:723, Proda,C.I.,et al, 2006
Vascular Parkinsonism and Dementia in a CADASIL Case with Intact Nigrostriatal Dopaminergic System
Akt Neurol 33: Suppl, Wegner,F.,et al, 2006
Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Dementia with Lewy Bodies
Lancet 362:1689-1690, Wilcock,G.K., 2003
Severe Worsening of Parkinsonism in Lewy Body Dementia Due to Donepezil
Neurol 61:1452, Onofri,M. & Thomas,A., 2003
Familial Dementia With Lewy Bodies
Arch Neurol 59:1622-1630, Tsuang,D.W.,et al, 2002
Progression of Parkinsonian Signs in Alzheimer's Disease
Neurol 54:1284-1289, Wilson,R.S.,et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000