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Parkinsonism syndrome in heterozygotes for Niemann-Pick C1
Hans H Kluenemann1, John G Nutt, Marie Y Davis
1Department of Psychiatry, University of Regensburg, Germany.
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.
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