A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 55-Year-Old Man with Rapidly Progressive Weakness and Numbness
Neurol 106:e218063, Li,X.,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 68-YEar-Old Man with Progressive Numbness, Vertigo, and Cognitive Decline
Neurol 104:e213437, Regan,S.M. & Davalos,L.F., 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
Acute and Progressive Cognitive Decline in a 38-Year-Old Man
Neurol 105: e213871, Wu,L.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 58-Year-Old Man With Resting tremor, Bradykinesia, and Distal Numbness
Neurol 105:e214183, Costa,R., et al, 2025
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 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 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Vascular Malformations of the Central Nervous System
www.UptoDate.Com, March, Singer,R.J.,et al, 2024
A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,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
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 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 Young Man With Subacute Onset of Spastic Paraparesis
Neurol 100:199-205, Rossi,S.,et al, 2023
Clinical Features and Diagnosis of Intramedullary Spinal Cord Abscess in Adults, A Systematic Review
Neurol 101:e836-e844, Harrold,G.K.,et al, 2023
A 67-YEar-Old Man with Multiple Intracranial Lesions
Neurol 101:e845-e851, Ngo,A.,et al, 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 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
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 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
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
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022