Nothing to declare.
New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease
Article first published online: 25 DEC 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 4, pages 382–385, October 2013
How to Cite
New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease., , , , , , , .
- Issue published online: 11 SEP 2013
- Article first published online: 25 DEC 2012
- Accepted manuscript online: 30 NOV 2012 12:09PM EST
- Manuscript Revised: 19 NOV 2012
- Manuscript Accepted: 19 NOV 2012
- Manuscript Received: 20 SEP 2012
- National Institutes of Child Health and Human Development. Grant Number: 36071
- NHMRC project. Grant Number: 330400
- CGG repeat;
- FMR1 gene;
- fragile X;
- grey zone alleles;
- Parkinson's disease;
- screening results
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.