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The diverse neurological features of Niemann-Pick disease type C: A report of two cases†
Article first published online: 12 OCT 2004
Copyright © 1988 Movement Disorder Society
Volume 3, Issue 4, pages 295–299, 1988
How to Cite
Coleman, R. J., Robb, S. A., Lake, B. D., Brett, E. M. and Harding, A. E. (1988), The diverse neurological features of Niemann-Pick disease type C: A report of two cases. Mov. Disord., 3: 295–299. doi: 10.1002/mds.870030403
- Issue published online: 12 OCT 2004
- Article first published online: 12 OCT 2004
- Niemann-Pick disease;
- Juvenile Parkinsonism;
- Cerebellar ataxia
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.