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Article

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

Journal of the neurological sciences - 15 Dec 2013

Kluenemann Hans H, Nutt John G, Davis Marie Y, Bird Thomas D

Abstract excerpt

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...

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Identifiers

PMID: 24035292
DOI: 10.1016/j.jns.2013.08.033
PMCID: PMC4729292

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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