Parkinsonism syndrome in heterozygotes for Niemann-Pick C1

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

Research output: Contribution to journalArticle

38 Scopus citations

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 languageEnglish (US)
Pages (from-to)219-220
Number of pages2
JournalJournal of the neurological sciences
Volume335
Issue number1-2
DOIs
StatePublished - Dec 15 2013

Keywords

  • Gaucher disease
  • Genetics
  • Lysosomal storage
  • Niemann-Pick C disease
  • Parkinson disease
  • Parkinsonism

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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