Niemann-Pick Type C Disease
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Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Transglutaminase 6 Antibodies in the Diagnosis of Gluten Ataxia
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Central Nervous System Involvement in Whipple Disease
Medicine 92:324-330, Compain, C.,et al, 2013
Mycoplasma Pneumoniae Infection: Neurologic Complications
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Central Nervous System Neuronal Surface Antibody Associated Syndromes: Review and Guidelines for Recognition
JNNP 83:638-645, Zuliani,L.,et al, 2012
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Rhombencephalitis A Series of 97 Patients
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Second Consensus Statement on the Diagnosis of Multiple System Atrophy
Neurol 71:670-676, Gilman,S.,et al., 2008
Mycoplasma Pneumoniae Encephalitis in Childhood
J Microbiol Immunol Infect 35:173-178, Lin,W.-C., et al, 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
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
Prader-Willi and Angelman Syndromes
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Adult Brainstem Gliomas
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New Variant Creutzfeldt-Jakob Disease:Neurological Features and Diagnostic Tests
Lancet 350:903-907, Zeidler,M.,et al, 1997
Autoantibodies to Glutamic Acid Decarboxylase in Three Patients With Cerebellar Ataxia, Late-Onset Insulin-Dependent Diabetes Mellitus, and Polyendocrine Autoimmunity
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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The Inherited Ataxias and the New Genetics
JNNP 61:327-332, Hammans,S.R., 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Cat Scratch Disease, Acute Encephalopathy & Other Neurologic Manifestations
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Sarcoidosis of the Nervous System, A Clinical Approach
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Increased Prevalence of Nitrous Oxide-Induced Subacute Combined Degeneration of the Spinal Cord: Clinical and Imaging Findings
AJNR 47:513-520, Bruen,R.,et al, 2026
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A 30-Year-Old Female Patient with Multiple Sclerosis Presenting with Rapidly Progressive Cranial Neuropathies, Weakness, and Ataxia
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Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
A 67-YEar-Old Man with Multiple Intracranial Lesions
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Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Autoimmune Nodopathies, An Emerging Dignostic Category
Curr Opin Neurol 35:579-585, Martin-Agullar, L.,et al, 2022
Paraneoplastic Myeloneuropathies
Neurol 96:e632-e639, Shah, S.,et al, 2021
Spontaneous Intracranial Hypotension
NEJM 385:2173-2178, Schievink, W.I., 2021
Functional Gait Disorders
Neurol 94:1093-1099, Nonnekes, J.,et al, 2020
Sensory Ganglionopathy
NEJM 383:1657-1662, Amato, A.A. & Ropper, A.H., 2020
Imaging Review of Paraneoplastic Neurologic Syndromes
AJNR 41:2176-2187, Madhavan, A.A.,et al, 2020
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017