Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

J Neurol Sci 2013 Dec 3;335(1-2):219-20. Epub 2013 Sep 3.

Department of Psychiatry, University of Regensburg, Germany.

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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Source
https://linkinghub.elsevier.com/retrieve/pii/S0022510X130288
Publisher Site
http://dx.doi.org/10.1016/j.jns.2013.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729292PMC
December 2013
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