Journal article
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
DZ Loesch, MS Khaniani, HR Slater, JP Rubio, QM Bui, K Kotschet, W D'Souza, A Venn, P Kalitsis, AKH Choo, T Burgess, L Johnson, A Evans, M Horne
Clinical Genetics | WILEY | Published : 2009
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) affects older males carrying premutation, that is, expansions of the CGG repeat (in the 55-200 range), in the FMR1 gene. The neurological changes are linked to the excessive FMR1 messenger RNA (mRNA), becoming toxic through a 'gain-of-function'. Because elevated levels of this mRNA are also found in carriers of the smaller expansion (grey zone) alleles, ranging from 40 to 54 CGGs, we tested for a possible role of these alleles in the origin of movement disorders associated with tremor.We screened 228 Australian males affected with idiopathic Parkinson's disease and other causes of parkinsonism recruited from Victoria and Tasmania for premut..
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Awarded by National Institute of Child Health and Human Development
Funding Acknowledgements
This study was supported by the National Institutes of Child Health and Human Development Grant HD 36071, and NHMRC project grant No 330400, to Dr DZ Loesch. We thank Ms Paige Simpson for contacting, and collecting swabs from patients of the Movement Disorders clinics. We also thank Ms Elaine Prenter for assistance with the collection of data from Tasmanian PD cases.