Journal article
Niemann-Pick disease type C: Two cases and an update
Movement disorders, Vol.15(6), pp.1199-1203
2000
DOI: 10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1
PMID: 11104205
Abstract
We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.
Details
- Title: Subtitle
- Niemann-Pick disease type C: Two cases and an update
- Creators
- Ergun Y UC - Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United StatesDavid A WENGER - Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvania, United StatesJoseph JANKOVIC - Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, United States
- Resource Type
- Journal article
- Publication Details
- Movement disorders, Vol.15(6), pp.1199-1203
- Publisher
- Wiley; Hoboken, NJ
- DOI
- 10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1
- PMID
- 11104205
- ISSN
- 0885-3185
- eISSN
- 1531-8257
- Language
- English
- Date published
- 2000
- Academic Unit
- Neurology
- Record Identifier
- 9984020742602771
Metrics
19 Record Views