A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Progressive Dyskinesia Due to Internal Cerebral Vein Thrombosis
Neurol 32:769-772, Solomon,G.E.,et al, 1982
Neuro CPC of MGH
Metachromatic Leukodystrophy, NEJM 267:1198-12041962., , 1962
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
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
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Long-Term Effects of Pallidal Deep Brain Stimulation in Tradive Dystonia
Neurol 73:53-58, Gruber,D.,et al, 2009
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Post-Streptococcal Autoimmune Disorders of the Central Nervous System
Curr Opin Neurol 16:359-365, Snider,L. &Swedo,S., 2003
Drug-Induced Pisa Syndrome (Pleurothotomus)
CNS Drugs 10:166-174, Suzuki, T. & Matsuzaka, H., 2002
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
Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
Ann Neurol 46:176-182, Kramer,P.L.,et al, 1999
Delayed Movement Disorders After Carbon Monoxide Poisoning
Eur Neurol 42:141-144, Choi,I.S. &Cheon,H.Y., 1999
Tardive Dyskinesia:Diagnosis, Pathogenesis, and Management
The Neurologist 4:180-187, Trugman,J.M., 1998
Thalamic Tremor:Case Reports and Implications of the Tremor-Generating Mechanism
Neurol 46:75-79, Miwa,H.,et al, 1996
Delayed-Onset Progressive Movement Disorders after Static Brain Lesions
Neurol 46:68-74, Scott,B.L.,et al, 1996
Improvement of Both Tardive Dystonia and Akathisia after Botulism Toxin Injection
Neurol 46:844-845, Shulman,L.M.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Delayed Dystonia with Striatal CT Lucencies Induced by a Mycotoxin (3-Nitropropionic Acid)
Neurol 45:2178-2183, He,F.,et al, 1995
Tardive Stereotype and Other Movement Disorders in Tardive Dyskinesias
Neurol 43:937-941, Stacy,M.,et al, 1993
Comparison of Striatal 18F-dopa Uptake in Adult-Onset Dystonia-Parkinsonism, Parkinson's & Dopa-Responsive Dystonia
Neurol 43:1563-1568, Turjanski,N.,et al, 1993
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Delayed Cyanide Induced Dystonia
JNNP 55:198-199, Valenzuela,R.,et al, 1992
Delayed-Onset Dystonia Due to Perinatal or Early Childhood Asphyxia
Neurol 41:216-222, Saint Hilaire,M.H.,et al, 1991
Young-Onset Parkinson's Disease:A Clinical Review
Neurol 41:168-173, Golbe,L.I., 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Progressive Dystonia Following Resuscitation From Cardiac Arrest
Neurol 40:1458-1461, Boylan,K.B.,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
Dystonia in Parkinson's Disease:Clinical & Pharmacological Features
Ann Neurol 23:73-78, Poewe,W.H.,et al, 1988
Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
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