Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Post-Traumatic Shoulder 'Dystonia':Persistent Abnormal Postures of the Shoulder After Minor Trauma
Neurol 51:1205-1207, Thyagarajan,D.,et al, 1998
Tremor and Other Movement Disorders after Whiplash Type Injuries
JNNP 63:110-112, Ellis,S.J., 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Post-Traumatic Movement Disorders in Survivors of Severe Head Injury
Neurol 47:1488-1492, Krauss,J.K.,et al, 1996
Dystonia after Head Trauma
Neurol 44:1374-1378, Lee,M.S.,et al, 1994
Post-Traumatic Movement Disorders:Central and Peripheral Mechanisms
Neurol 44:2006-2014, Jankovic,J., 1994
Posttraumatic Torticollis
Arch Neurol 48:221-223, Truong,D.D.,et al, 1991
Cervical Dystonia:Clinical Findings and Associated Movement Disorders
Neurol 41:1088-1091, Jankovic,J.,et al, 1991
Post-Traumatic Torticollis
Neurol 39:1642-1643, Isaac,K.&Cohen,J.A., 1989
Dystonia and Tremor Induced by Peripheral Trauma:Predisposing Factors
JNNP 51:1512-1519, Jankovic,J.&VanDer Linden,C., 1988
Adults with Cerebral Palsy Require Ongoing Neurologic Care
Ann Neurol 89:860-871, Smith, S.E.,et al, 2021
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Rapidly Progressive Corticobasal Degeneration Syndrome
Case Rep Neurol 3:185-190, Herrero Valverde, A.,et al, 2011
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The DYT1 Phenotype and Guidelines for Diagnostic Testing
Neurol 54:1746-1753,1718, Bressman,S.B.,et al, 2000
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
Posterior Cerebral Artery Syndromes
, Caplan,L.R. &Bogousslavsky,J., 1998
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
Delayed-Onset Progressive Movement Disorders after Static Brain Lesions
Neurol 46:68-74, Scott,B.L.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Paroxysmal Dyskinesias:Clinical Features and Classification
Ann Neurol 38:571-579, Demirkiran,M.&Jankovic,J., 1995
Pseudochoreoatheotosis:Movement Associated with Loss of Proprioception
Arch Neurol 51:1103-1109, Sharp,F.R.,et al, 1994
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
The Relationship Between Trauma and Idiopathic Torsion Dystonia
JNNP 54:713-717, Fletcher,N.A.,et al, 1991
The Movement Disorder of Reflex Sympathetic Dystrophy
Neurol 40:57-61, Schwartzman,R.J.&Kerrigan,J., 1990
Cortical-Basal Ganglionic Degeneration
Neurol 40:1203-1212, Riley,D.E.,et al, 1990
Early-Onset Dementia & Extrapyramidal Disease:Clinicopath Variant of Gerstmann-Straussler-Scheinker or Alzheimer's Disease?
JNNP 53:932-934, Hart,J.Jr.&Gordon,B., 1990
Magnetic Resonance Imaging in Pathologically Proven Hallervorden-Spatz Disease
Neurol 39:440-442, Schaffert,D.A.,et al, 1989
Hemidystonia:A Report of 22 Patients & a Review of the Literature
JNNP 48:650-657, Pettigrew,L.C.&Jankovic,J., 1985
Delayed-onset Dystonia in Patients with"Static"Encephalopathy
JNNP 43:789-797, Burke,R.E.,et al, 1980
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurol 97:e1367-e1381, Gaig, C.,et al, 2021
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Autopsy Case of Severe Generalized Dystonia and Static Ataxia with Marked Cerebellar Atrophy
Neurol 85:1522-1524, Miyamoto, R.,et al, 2015
Deep-Brain Stimulation - Entering the Era of Human Neural-Network Modulation
NEJM 371:1369-1373, Okun, M.S., 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
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013