Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Acute and Progressive Cognitive Decline in a 38-Year-Old Man
Neurol 105: e213871, Wu,L.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
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
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
A 55-Year-Old Man with Rapidly Progressive Weakness and Numbness
Neurol 106:e218063, Li,X.,et al, 2026
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody Disease
Ann Neurol 96:1086-1091, Fadda,G.,et al, 2024
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Clinicopathologic Conference, Cerebral Amyloid Angiopatny-Related Inflammation
NEJM 385:358-368, Case 22-2021, 2021
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
A 67-Year-Old Man with Exercise Intolerance nd Progressive Weakness
Neurol 106:e214830, Gosset,A.,et al, 2026
Deep Venous Dural Arteriovenous Fistula Mimicking Progressive Dementia
Stroke 57:e180-181, Langlois-Therien,T.,et al, 2026
A 32-Year-Old Woman with Progressive Vision Loss and Confusion
Neurol 106:e214988, Kumar,A.B.,et al, 2026
A 68-YEar-Old Man with Progressive Numbness, Vertigo, and Cognitive Decline
Neurol 104:e213437, Regan,S.M. & Davalos,L.F., 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A 19-Year-Old Woman with Progressive Weakness and Numbness in Her Arms and Legs
Neurol 104:e213495, Alsabah,A-A.,et al, 2025
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
A 73-Year-Old Man With Progressive Proximal Muscle Weakness and Binocular Diplopia
Neurol 105:e214173, Wold,K.J.,et al, 2025
A Woman with Subacute Progression of Distal Upper Extremity Weakness
Neurol 105:e214212, Zhao,A.J.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Tiger Man Sign in Sarcoid Myopathy
Neurol 105:e214323, Sun,Q.,et al, 2025
A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Clinicopatholigic Conference, Rheumatoid Arthritis with Vasculitis Causing A Confluent Mononeuritis Multiplex
NEJM 390:1312-1322, Case 11-2024, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
A Woman With Multifocal Ischemic Strokes and Progressive Cognitive Impairment Due to Intravascular Lymphoma
Stroke 54:e488-e451, Stamm,B., et al, 2023
Clinicopathologic Conference, Noncirrhotic hyperammonemia after Roux-en-Y Gastric Bypass
NEJM 389:1221-1230, Case 30-2023, 2023
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
A 72-Year-Old Woman with Rapidly Progressive Bilateral Hearing Loss
Neurol 98:632-637, Alsalem, A.,et al, 2022
A 77-Year-Old Man with Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints
Neurol 99:26-30, Cao, T.Q.,et al, 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
An 80-Year-Old Woman with a Homonymous Hemianopsia
Neurol 99:713-717, Tajfirouz, D.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
Mol Genet Genomic Med 10:e1906, Vo,M.L.,et al, 2022