Niemann-Pick Type C Disease
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A Dizzy Architect
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A 16-year-old Girl with Ataxia, Oscillopsia, and Behavioral Changes
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An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Kelch-Like Protein 11 Antibodies in Seminoma-Associated Paraneoplastic Encephalitis
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Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Progressive Rubella Panencephalitis
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Central Nervous System Neuronal Surface Antibody Associated Syndromes: Review and Guidelines for Recognition
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Anti-Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia with Cerebellar Ataxia
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Rhombencephalitis A Series of 97 Patients
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Spectrum of Neurological Syndromes Associated with Glutamic Acid Decarboxylase Antibodes: Diagnostic Clues for this Association
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Neuro-Ophthalmologic Manifestations of Paraneoplastic Syndromes
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Asymmetric Cerebellar Ataxia and Limbic Encephalitis as a Presenting Feature of Primary Sjogrens Syndrome
J Neurol 254:1609-1611, Collison,K. and Rees,J., 2007
Age and High-Dose Methotrexate are Associated to Clinical Acute Encephalopathy in FRALLE 93 Trial for Acute Lymphoblastic Leukemia in Children
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Spectrum of Paraneoplastic Neurologic Disorders in Women with Breast and Gynecologic Cancer
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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001
Clinical,Radiological,Neurophysiological,and Neuropathological Characteristics of Gluten Ataxia
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Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
BMJ 315:856-857, Fox,N.C.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Ependymomas of the Posterior Cranial Fossa:CT and MRI Findings
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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MR Findings in Seven Patients with Organic Mercury Poisoning (Minamata Disease)
AJNR 15:1575-1578, Korogi,Y.,et al, 1994
Clinicopath Conf
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Angelman Syndrome: Clinical Profile
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Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
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Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
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Alcoholism
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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
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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A 59-Year-Old Man with Progressive Dysarthria and Gait Instability
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Clinicopathological Conference, Powasan Virus Encephalitis
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Gait Analysis in Neurologic Disorders, Methodology, Applications and Clinical Considerations
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia
Neurol 105:e214381, Gomez,A.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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Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025