New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease

Dz Loesch, Flora Tassone, J. Lo, Hr Slater, Lv Hills, Mq Bui, Pa Silburn, Gd Mellick

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

We recently reported a significant increase in the frequency of carriers of grey zone (GZ) alleles of FMR1 gene in Australian males with Parkinson's disease (PD) from Victoria and Tasmania. Here, we report data comparing an independent sample of 817 PD patients from Queensland to 1078 consecutive Australian male newborns from Victoria. We confirmed the earlier finding by observing a significant excess of GZ alleles in PD (4.8%) compared to controls (1.5%). Although both studies provided evidence in support of an association between GZ-carrier status and increased risk for parkinsonism, the existing evidence in the literature from screening studies remains equivocal and we discuss the need for alternative approaches to resolve the issue.

Original languageEnglish (US)
Pages (from-to)382-385
Number of pages4
JournalClinical Genetics
Volume84
Issue number4
DOIs
StatePublished - Oct 2013

Keywords

  • CGG repeat
  • FMR1 gene
  • Fragile X
  • Grey zone alleles
  • Parkinson's disease
  • Screening results

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease'. Together they form a unique fingerprint.

  • Cite this