Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
Cureus doi:10.7759/CUREUS.32182, Sweedan,Y.G.,et al, 2025
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Sporadic Creutzfeldt-Jakob Disease in a Very Young Person
Neurol 97:813-816,801, Appleby, B.S.,et al, 2021
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Frontotemporal Dementia
BMJ 347:f4827, Warren, J.D.,et al, 2013
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997
Alzheimer's disease, Diffuse Parenchymatous Diseases of the CNS, In Dementia
F. A. Davis Co. , Phila. , 1971, p. 165., Wells,C.E., 1971
Uncommon Causes of Nontraumatic Intracerebral Hemorrhage
Stroke 55:1416-1427, Tartarin,H.,et al, 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Neuroimaging Biomarkers in a Patient with Probable Psychiatric-Onset Prodromal Dementia with Lewy Bodies
Neurol 99:654-657, Urso, D.,et al, 2022
Hashimoto Encephalopathy in the 21st Century
Neurol 94:e217-e224, Mattozzi, S.,et al, 2020
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
A 20-year-old Woman with Rapidly Progressive Weakness
Neurol 82:e200-e204, Paganoni, S.,et al, 2014
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
MELAS
MedLink.com, August, Klopstock, T., 2012
Movement Disorders Emergencies Part 1
, Robottom, B.J., et al, 2011
Patterns and Trends in Antipsychotic Prescribing for Parkinson Disease Psychosis
Arch Neurol 68:899-904, Weintraub, D.,et al, 2011
Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
Acta Neurol Taiwan 17:177-183, Shen, F.,et al, 2008
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Vascular Parkinsonism and Dementia in a CADASIL Case with Intact Nigrostriatal Dopaminergic System
Akt Neurol 33: Suppl, Wegner,F.,et al, 2006
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
The Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection (PANDAS) Subgroup: Separating Fact From Fiction
Pediatrics 113:907-911, Swedo,S.,et al, 2004
The Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection (PANDAS) Etiology for Tics and Obsessive-Compulsive Symptoms: Hypothesis or Entity? Practical Considerations for the Clinician
Pediatrics 113:883-886, Kurlan,R. &Kaplan,E., 2004
Ten Most Commonly Asked Questions About the Psychiatric Aspects of Parkinson's Disease
The Neurologist 9:50-56, Reich,S.G. & Marsh,L., 2003
Dementia with Lewy Bodies
Lancet 362:1689-1690, Wilcock,G.K., 2003
Prevalence and Clinical Correlates of Psychotic Symptoms in parkinson Disease
Arch Neurol 56:595-601, Aarsland,D.,et al, 1999
Diagnosing Dementia with Lewy Bodies
Lancet 354:1227-1228, McKeith,I.G.,et al, 1999
An Algorithm (Decision Tree) for the Management of Parkinson's Disease:Trtm Guidelines
Neurol 50:S1-S57, Olanow,C.W.&Koller,W.C., 1998
Managing the Neuropsychiatric Symptoms of Parkinson's Disease
Neurol 50:S33-S38, Lieberman,A., 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Subcotical Arteriosclerotic Encephalopathy (Binswangers Disease)
, Ghika,J. &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
New Variant Creutzfeldt-Jakob Disease:Neurological Features and Diagnostic Tests
Lancet 350:903-907, Zeidler,M.,et al, 1997
Lewy Body Disease and Dementia
Arch Int Med 156:487-493, Kalra,S.,et al, 1996
BSE Linked to New Variant of CJD in Humans
BMJ 312:795, 791, 843, 85496., , 1996
A New Variant of Creutzfeldt-Jakob Disease in the UK
Lancet 347:921-925, 915, 916, 91796., Will,R.G.,et al, 1996
Neuropsychiatric Aspects of Progressive Supranuclear Palsy
Neurol 47:1184-1189, Litvan,I.,et al, 1996