Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Acquired Neurosyphilis Presenting as Movement Disorders
Mov Disord 27:690-695, Shah, B.B. & Lang, A.E., 2012
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Subcotical Arteriosclerotic Encephalopathy (Binswangers Disease)
, Ghika,J. &Bogousslavsky, J., 1998
Creutzfeldt-Jakob Disease without Periodic Sharp Wave Complexes:A Clinical, EEG, and Path Study
Neurol 38:1056-1060, Zochodne,D.W.,et al, 1988
Persisting Neurologic Sequelae of Lithium Carbonate Therapy
Arch Neurol 40:747-751, MacDonaldson,I.,et al, 1983
A 58-Year-Old Man With Resting tremor, Bradykinesia, and Distal Numbness
Neurol 105:e214183, Costa,R., et al, 2025
Neurologic Manifestations of Hyperthyroidism and Graves Disease
www.UptoDate.com, Oct 28, Rubin,D.I., 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
MR Imaging Patterns and Prognosis in Powassan Virus Encephalitis
Neurologist doi.10.1097/NRI.0000000000000533, Finelli,P.F., 2023
Reversible Parkinsonism Caused by Lumboperitoneal Shunt Overdrainage
Neurol 99:486-488, Takeuchi, H.,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 Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
Clinicopathologic Conference, Powassan Virus Encephalitis
NEJM 380:380-387, Case 3-2019, 2019
Stridor in Multiple System Atrophy
Neurol 93:630-639, Cortelli, P.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,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
A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
A 55-year-old Man with Rapidly Progressive Dementia and Parkinsonism
Neurol 89:e182-e187, Tabuas-Pereira, M.,et al, 2017
An 82-year-old man with Worsening Gait
Neurol 89:e246-e252, Chew, S.,et al, 2017
Atypical Presentations of Intracranial Hypotension: Comparison with Classic Spontaneous Intracranial Hypotension
AJNR 37:1256-1261, Capizzano, A.A.,et al, 2016
A 57-year-old Man with Subacute Gait Difficulty and Hand Tremor
Neurol 87:e110-e113, Paliwal, V.K.,et al, 2016
Multiple-System Atrophy
NEJM 372:249-263, Fanciulli, A. & Wenning, G.K., 2015
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 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
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
Degenerative Diseases of the Nervous System, Multiple System Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1095, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Olivopontocerebellar Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1106, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, West Nile Virus Infection, Case 15-2013
NEJM 368:1919-1927, Vyas, J.,et al, 2013
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Reversible Parkinsonism and Ataxia Associated With High-Dose Octreotide
Neurol 70:2345-2346, Espay,A.J., 2008
Second Consensus Statement on the Diagnosis of Multiple System Atrophy
Neurol 71:670-676, Gilman,S.,et al., 2008
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
CNS Lupus: A Study of 41 Patients
Neurol 69:644-654, Joseph,F.G.,et al, 2007
Clinicopath conf., Human Prion Disease, Sporadic CJD
Neurol 69:1881-1887, Geschwind,M.D., et al, 2007
Neurologic Manifestations in Welders with Pallidal MRI T1 Hyperintensity
Neurol 64:2033-2039,2001, Josephs,K.A.,et al, 2005
Initial Diagnoses Given to Persons with the Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
Neurol 65:299-301, Hall,D.A.,et al, 2005
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Reversible Parkinsonism with Normal B-CIT-SPECT in Patients Exposed to Sodium Valproate
Neurol 62:1435-1437, Easterford,K.,et al, 2004