Fragile X
22 July was Fragile X Awareness Day and you should have received a poster for your practice and a flyer for consumers about the research project being run by Associate Professor Julian Trollor at the University of NSW. I hope the CSGPN Disability project can rely on your support to promote this research into fragile X.

Rachael Birch, Research Assistant, Department of Developmental Disability Neuropsychiatry, explained the research project as follows:

A group of researchers led by Associate Professor Julian Trollor at the University of NSW have commenced a study of the effect of premutation expansions of the Fragile X Mental Retardation (FMR1) gene in adult men. It has long been known that full expansion of CGG repeats (>200) on the FMR1 gene is associated with the phenotype of X-linked intellectual disability and autism, known as fragile X syndrome. However, interest has now turned to the impact of moderate or ‘premutation’ repeat expansions on brain function. Approximately 1 in 259 females and 1in 813 males carry the premutation of the FMR1 gene (59-200 CGG repeats), and may be parents or grandparents of people with fragile X syndrome. While it was previously thought that premutation expansions had no adverse effects on health, a high proportion of people with premutation expansions have recently been shown to develop a progressive syndrome of tremor, ataxia, parkinsonism, neuropathy, neuropsychiatric disorder and dementia, known as fragile X associated tremor ataxia syndrome (FXTAS).

As yet, the specific trajectories and risk factors for FXTAS are largely unknown. The researchers hope to perform detailed cognitive and neuromotor assessments on adult men over the age of 40 who have confirmed status (through genetic testing) as premutation carriers of the FMR1 gene. The research team will include Associate Professor Julian Trollor and Dr Wei Wen (UNSW), Dr Anna Hackett and Carolyn Rogers (Genetics of Learning Disability Service), Professor Kim Cornish and Dr Darren Hocking (Monash University), and Professor Stephen Lord (Neuroscience Research Australia). The study is funded by the Dementia Collaborative Research Centre (Assessment and Better Care) and Australian Research Council and is based at the University of New South Wales.

Potential participants for this study can contact the research team at UNSW directly by telephoning 9931 9160 or by emailing fxtas@unsw.edu.au