Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
JAMA Neurol 8:418-419, Liu,M.,et al, 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
A 16-year-old Girl with Ataxia, Oscillopsia, and Behavioral Changes
Neurol 94:713-717, Silverman, A.,et al, 2020
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
A 52-year-old woman with a 3 weeks of progressive gait ataxia and dysarthria
Neurol 90:e985-e989, Ly, C.,et al, 2018
Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018
A 35-year-old Woman with Diplopia, Ataxia, and Altered Mental Status
Neurol 91:e1942-e1946, Bauer, Z.,et al, 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
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
A 46-year-old man with Persistent Hiccups, Cognitive Dysfunction, and Imbalance
Neurol 89:e193-e196, Lamb, C.J.,et al, 2017
Glial Fibrillary Acidic Protein Immunoglobulin G as Biomarker of Autoimmune Astrocytopathy: Analysis of 102 Patients
Ann Neurol 81:298-309, Flanagan, E.P.,et al, 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
Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy
JAMA Neurol 73:1297-1307, Fang, B.,et al, 2016
Paraneoplastic Cerebellar Degeneration with Anti-Yo Antibodies - A Review
Ann Clin Trans Neurol 3:655-663, Venkatraman,A. & Opal,P., 2016
A 73-year-old Man with Diplopia and Ataxia
Neurol 85:e96-e100, Gupta, H.V.,et al, 2015
Clinicopathologic Conference, Parainfectious Encephalomyelitis Associated with Systemic Mycoplasma Infection
NEJM 370:2427-2438, Case 19-2012, 2014
The Acquired Metabolic Disorders of the Nervous System, Hashimoto Encephalopathy (Steroid Responsive Encephalopathy Syndrome)
Adams & Victors Principles of Neurology Chp 40, pg 1155, Ropper, A.H.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1162, Ropper, A.H.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin B12 (Cobalamin) Deficiency (Subacute Combined Degeneration)
Adams & Victors Principles of Neurology Chp 41, pg 1172, Ropper, A.H.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Lead
Adams & Victors Principles of Neurology Chp 43, pg 1220, Ropper, A.H.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Whipple Disease
Adams & Victors Principles of Neurology, Chp 32, pg 710, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
NEJM 369:1253-1261, Case 30-2013, 2013
Central Nervous System Involvement in Whipple Disease
Medicine 92:324-330, Compain, C.,et al, 2013
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Rhombencephalitis A Series of 97 Patients
Medicine 90:256-261, Moragas, M.,et al, 2011
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
Leukemia 21:238-247, Dufourg, M.N.,et al, 2007
Lyme Neuroborreliosis Presenting as the Syndrome of Inappropriate Antidiutetic Hormone Secretion
MedGenMed 8:71, Perkins, M.P.,et al, 2006
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
Treatment-Induced Leukoencephalopathy in Primary CNS Lymphoma,A Clinical and Autopsy Study
Neurol 62:451-456, Lai,R.,et al, 2004
Neurologic Manifestations of Vitamin B12 Deficiency
NEJM 348:2208, Scherer,K., 2003
Biochemical And Clinical Aspects of Methotrexate Neurotoxicity
Chemotherapy 49:92-104, Vezmar,S.,et al, 2003
Mycoplasma Pneumoniae Encephalitis in Childhood
J Microbiol Immunol Infect 35:173-178, Lin,W.-C., et al, 2002
Neurological Complications of Coeliac Disease
Postgrad Med J 78:393-398, Tengah, D.S.N.A.,et al, 2002
Hashimoto's Encephalitis as a Differential Diagnosis of Creutzfeldt-Jakob Disease
JNNP 66:172-176, Seipelt,M.,et al, 1999
Clinicopath Conf,Multifocal Inflammatory Leukoencephalopathy Related to Combination Chemo with Fluorouracil/levamisole
NEJM 341:512-519, Case 24-1999, 1999
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
Clinicopath Conf
Hodgkin's Disease, Paraneoplastic Cerebellar Degeneration, Case 21-1997, NEJM 337:115-12297., , 1997
A Man with Weight Loss, Ataxia, and Confusion for 3 Months
Lancet 347:448, Beversdorf,D.,et al, 1996