Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., 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
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
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
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015