| Literature DB >> 3145417 |
R J Coleman1, S A Robb, B D Lake, E M Brett, A E Harding.
Abstract
Two cases of Niemann-Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic-rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann-Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.Entities:
Mesh：
Year: 1988 PMID： 3145417 DOI： 10.1002/mds.870030403
Source DB: PubMed Journal: Mov Disord ISSN： 0885-3185 Impact factor: 10.338