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Case Reports
. 2013 Dec 15;335(1-2):219-20.
doi: 10.1016/j.jns.2013.08.033. Epub 2013 Sep 3.

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1

Hans H Kluenemann  1 , John G Nutt, Marie Y Davis, Thomas D Bird
Affiliations
Case Reports

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1

Hans H Kluenemann et al. J Neurol Sci. .

Abstract

Niemann-Pick C (NPC) disease is a rare autosomal recessive lipid storage disorder. We report here the unique occurrence of three adult heterozygous carriers of mutations in the NPC1 gene who also have a parkinsonism syndrome. This suggests the possibility that mutations in NPC1 could be a risk factor for Parkinson's disease similar to the phenomenon that is now recognized with Gaucher disease and the glucocerebrosidase (GBA) gene. This report should be a stimulus for larger more detailed epidemiological studies.

Keywords: Gaucher disease; Genetics; Lysosomal storage; Niemann–Pick C disease; Parkinson disease; Parkinsonism.

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