title: Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.
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.
authors.affiliation: Department of Psychiatry, University of Regensburg, Germany.
authors.forename: Hans H
authors.initials: HH
authors.lastname: Kluenemann
authors.forename: John G
authors.initials: JG
authors.lastname: Nutt
authors.forename: Marie Y
authors.initials: MY
authors.lastname: Davis
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Bird
mesh_terms: D000368:Aged; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000235:genetics; D010300:Parkinson Disease / Q000150:complications*
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein
keywords: Gaucher disease; Genetics; Lysosomal storage; Niemann–Pick C disease; Parkinson disease; Parkinsonism
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