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.
Original language | English (US) |
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Pages (from-to) | 219-220 |
Number of pages | 2 |
Journal | Journal of the neurological sciences |
Volume | 335 |
Issue number | 1-2 |
DOIs | |
State | Published - Dec 15 2013 |
Keywords
- Gaucher disease
- Genetics
- Lysosomal storage
- Niemann-Pick C disease
- Parkinson disease
- Parkinsonism
ASJC Scopus subject areas
- Neurology
- Clinical Neurology