Kluenemann, Hans H. and Nutt, John G. and Davis, Marie Y. and Bird, Thomas D. (2013) Parkinsonism syndrome in heterozygotes for Niemann-Pick C1. JOURNAL OF THE NEUROLOGICAL SCIENCES, 335 (1-2). pp. 219-220. ISSN 0022-510X, 1878-5883
Full text not available from this repository. (Request a copy)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. (c) 2013 Elsevier B.V. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DISEASE; GENE; Parkinson disease; Niemann-Pick C disease; Parkinsonism; Genetics; Lysosomal storage; Gaucher disease |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 23 Mar 2020 09:02 |
| Last Modified: | 23 Mar 2020 09:02 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15520 |
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