LRRK2 mutations and Parkinson's disease in Sardinia-A Mediterranean genetic isolate

Giovanni Cossu, Marina van Doeselaar, Marcello Deriu, Maurizio Melis, Andrea Molari, Alessio Di Fonzo, Ben A. Oostra, Vincenzo Bonifati

Research output: Contribution to journalArticlepeer-review

Abstract

The Leucine-Rich Repeat Kinase 2 (LRRK2) Gly2019Ser mutation is frequent among Parkinson's disease (PD) patients from the Arab, Jewish, and Iberian populations, while another mutation, Arg1441Gly, is common in the Basque population. We studied the prevalence of these mutations in Sardinia, a Mediterranean genetic isolate with peculiar structure and similarities with the Basque population. Among 98 Sardinian PD probands we detected one heterozygous Gly2019Ser carrier. This mutation was also found in one of 55 Sardinian controls, an 85-year-old man, later shown to have a positive family history of parkinsonism. No carriers of Arg1441Gly, Arg1441Cys, or Arg1441His mutations were found among cases and controls. Our results suggest that the "Basque" LRRK2 mutation is absent or very rare in Sardinia. The Gly2019Ser mutation is present but its frequency is lower than that in Iberian, Arab, or Jewish populations. The identification of an 85-year-old, healthy Gly2019Ser carrier supports the concept that this mutation displays incomplete penetrance.

Original languageEnglish
Pages (from-to)17-21
Number of pages5
JournalParkinsonism and Related Disorders
Volume13
Issue number1
DOIs
Publication statusPublished - Feb 2007

Keywords

  • Genetic isolates
  • LRRK2
  • Mutation
  • Parkinson's disease
  • Sardinia

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Neurology

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