Journal article

Evidence for the Role of FMR1 Gray Zone Alleles as a Risk Factor for Parkinsonism in Females

Danuta Z Loesch, Flora Tassone, George D Mellick, Malcolm Horne, Justin P Rubio, Minh Q Bui, David Francis, Elsdon Storey

MOVEMENT DISORDERS | WILEY | Published : 2018

Abstract

Background and Objective There is convincing evidence that small CGG expansion (41-54 repeats): FMR1 "gray zone" alleles (GZ) contribute to the risk of parkinsonism in males, but there is insufficient corresponding data in females. This study intends to fill this gap. Methods We screened whole-blood-derived DNA from a cohort of 601 females diagnosed with idiopathic PD, and from dry Guthrie blood spots from a local sample of 1,005 female newborns (population controls), for the size of the FMR1 CGG repeat using a PCR technique. Results We found a significant excess (8.2%) of GZ carriers compared with 5.2% in the control sample, with a P value of 0.009 for the difference in proportions. Conclus..

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Grants

Awarded by National Institutes of Child Health and Human Development Grant


Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT


Funding Acknowledgements

The National Institutes of Child Health and Human Development Grant HD 36071 to D.Z.L.; Brain Foundation Research Grant; Bethlehem Griffiths Research Foundation Grant; and Victorian Clinical Genetic Services special grant for Newborn Screening to D.F.