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Mov Disord. 1988;3(4):295-9.

The diverse neurological features of Niemann-Pick disease type C: a report of two cases.

Author information

1
National Hospital for Nervous Diseases, Hospital for Sick Children, London, England.

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.

PMID:
3145417
DOI:
10.1002/mds.870030403
[Indexed for MEDLINE]

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