Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Neurologic Aspects of Boxing
Arch Neurol 44:453-459, Jordan,B.D., 1987
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Atypical Parkinsonian Syndromes: A General Neurologists Perspective
Eur J Neurol 25:41-58, Deutschlander, A.B.,et al, 2018
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
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, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004
Familial Dementia With Lewy Bodies
Arch Neurol 59:1622-1630, Tsuang,D.W.,et al, 2002
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Unusual Clinical Presentations of Cortical-Basal Ganglionic Degeneration
Ann Neurol 40:893-900, Bergeron,C.,et al, 1996
Consensus Guidelines for Clin & Path Dx of Dementia with Lewy Bodies (DLB) :Report of DLB Intl Workshop
Neurol 47:1113-1114, 11241996., McKeith,I.G.,et al, 1996
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Diffuse Lewy Body Disease:Clinical Features in 15 Cases
JNNP 52:709-717, Byrne,E.J., 1989
Diffuse Lewy Body Disease and Progressive Dementia
Neurol 38:1520-1528, Burkhardt,C.R.,et al, 1988
Atypical Presentation of Progressive Supranuclear Palsy
Ann Neurol 17:334-343, Davis,P.H.,et al, 1985
Reversible Leukoencephalopathy and Parkinsonism Due to CNS Involvement in Cryoglobulinemia
Neurol 106:e214622, German,A.,et al, 2026
Neurologic Manifestations of Hyperthyroidism and Graves Disease
www.UptoDate.com, Oct 28, Rubin,D.I., 2024
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
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
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
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Non-Alzheimers Dementia 2 Lewy Body Dementias
Lancet 386:1683-1697, Walker, Z.,et al, 2015
Progressive Parkinsonism, Balance Difficulties, and Supranuclear Gaze Palsy
JAMA Neurol 71:104-107, Erro, R.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Carbon Monoxide Poisoning
Adams & Victors Principles of Neurology Chp 40, pg 1138, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Encephalitis Lethargica (non Economo Disease, sleeping sickness)
Adams & Victors Principles of Neurology, Chp 33, pg 768, Ropper, A.H.,et al, 2014
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
Degenerative Diseases of the Nervous System, Multiple System Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1095, Ropper, A.H.,et al, 2014
Parkinsonism is a Late, Not Rare, Feature of CADASIL
Stroke 44:1147-1149, Ragno, M.,et al, 2013
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
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
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
Neuroimaging of Bilateral Caudate Infarction Manifesting as Parkinsonian Gait Disorder
Conn Med 71:149-150, Finelli,P.F., et al, 2007
Clinicopath conf., Human Prion Disease, Sporadic CJD
Neurol 69:1881-1887, Geschwind,M.D., et al, 2007