Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Association of Changes in Activity Patterns with Brain Atrophy and Disability Progression in People with Multiple Sclerosis
Neurol 106:e214678, e214742, Fitzgerald,K.C.,et al, 2026
A 32-Year-Old Woman with Progressive Vision Loss and Confusion
Neurol 106:e214988, Kumar,A.B.,et al, 2026
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 27-Year-Old Man with Progressive Bilateral Vision Loss Resistant to Steroid Therapy
Neurol 105: e213897, Zhang,W.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
A 55-Year -Old Woman with Painless Hand Weakness and Atrophy
Neurol 103:e209561, Ticku,H. & Katirji,B.,, 2024
A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
A 67-YEar-Old Man with Multiple Intracranial Lesions
Neurol 101:e845-e851, Ngo,A.,et al, 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, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A 37-Year-Old Man with Involuntary Movements, Gait Disturbance, and Hyperasthesia
Neurol 98:851-853, Meng, D.,et al, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
An 80-Year-Old Woman with a Homonymous Hemianopsia
Neurol 99:713-717, Tajfirouz, D.,et al, 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
Mol Genet Genomic Med 10:e1906, Vo,M.L.,et al, 2022
Autoimmune Nodopathies, An Emerging Dignostic Category
Curr Opin Neurol 35:579-585, Martin-Agullar, L.,et al, 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A Middle-Aged Man with a History of Muscle Pain Presenting with Progressive Leukoencephalopathy and Subsequent Coma
Neurol 97:910-915, Jakobsson, A.S.,et al, 2021
A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
NEJM 383:2666-2675, Case 41-2020, 2020
Clinicopathologic Conference, Powassan Virus Encephalitis
NEJM 380:380-387, Case 3-2019, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Multiple Sclerosis
NEJM 378:169-180, Reich, D.S.,et al, 2018
An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,et al, 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Clinicopathologic Conference, Primary Progressive Aphasia, Semantic Variant, due to TAR DNA Binding Protein 43 associated Frontotemporal Lobar Degen
NEJM 376:158-167, Case 1-2017, 2017
Clinicopathologic Conference, Posterior Cortical Atrophy with Frontotemporal Lobe Dementia with Gene Mutation
JAMA Neurol 74:114-118, , 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Rapid Multifocal Neurologic Decline in an Immunocompromised Patient
JAMA Neurol 73:226-231, Kromm, J.A.,et al, 2016
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
Mills Syndrome
Neurol 87:e54, Porto, F.H.G.,et al, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,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