Journal article

Age and CGG-repeat length are associated with neuromotor impairments in at-risk females with the FMR1 premutation

Claudine M Kraan, Darren R Hocking, Nellie Georgiou-Karistianis, Sylvia A Metcalfe, Alison D Archibald, Joanne Fielding, Julian Trollor, John L Bradshaw, Jonathan Cohen, Kim M Cornish



Recent studies report a higher risk of dementia and motor symptoms in females with the fragile X mental retardation 1 premutation (PM-carriers) than has hitherto been appreciated. Here, we use dual-task gait paradigms to identify potential markers of cognitive and motor decline in female PM-carriers. Spatiotemporal gait characteristics and variability of gait were assessed during single- and dual-task conditions in 28 female PM-carriers (mean age 41.32 ± 8.03 years) and 31 female controls with normal fragile X mental retardation 1 alleles (mean age 41.61 ± 8.30 years). Despite comparable gait characteristics at baseline, gait performance was significantly poorer for PM-carriers when performi..

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Awarded by Australian Research Council (ARC)

Funding Acknowledgements

This work was supported by an Australian Research Council (ARC) Discovery grant (DP110103346) to Kim M Cornish, Nellie Georgiou-Karistianis, Sylvia A Metcalfe, Julian Trollor, Joanne Fielding, and John L Bradshaw, and a Monash University Research Fellowship to Darren Hocking. This work was partly supported by a National Fragile X Foundation Rosen Summer Student Fellowship award and the Australian Postgraduate Award Scholarship Scheme to Claudine Kraan. Sylvia A Metcalfe was supported by the University of Melbourne. Sylvia A Metcalfe and Alison D Archibald were supported by the Murdoch Children's Research Institute and the Victorian Government's Operational Infrastructure Support Program. The authors express their thanks to the Fragile X Association of Australia and Fragile X Alliance for their support in recruitment. They also thank Jonathan Whitty from Healthscope Pathology and Erin Turbitt from the Murdoch Childrens Research Institute for their assistance on the molecular procedures and Anna Atkinson for helping with the data collection. Finally, they are indebted to all the families who participated in this research.