Homozygous and Heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

Cindy Zadikoff, Ekaterina Rogaeva, Ana Djarmati, Christine Sato, Shabnam Salehi-Rad, Peter St. George-Hyslop, Christine Klein, Anthony E. Lang*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

32 Scopus citations

Abstract

The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care.

Original languageEnglish (US)
Pages (from-to)875-879
Number of pages5
JournalMovement Disorders
Volume21
Issue number6
DOIs
StatePublished - Jun 1 2006

Keywords

  • Gene
  • Mutation
  • Parkinson's disease
  • PINK1

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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