Project Page

Back to search results

Prevalence & correlates of neuropsychiatric symptoms among premutation carriers of the FMR1 gene - PhD project

Dr Rachael Birch, Professor Julian Trollor
Research Centre DCRC Assessment and Better Care
Partner Institution
Project Description

This PhD project will investigate cognitive and motor function among adult males who carry a premutation of the fragile X gene. Recent research suggests that premutation expansions of the fragile X gene may cause a specific dementia syndrome in mid to late life in some people. The syndrome has been called Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and is characterised by progressive decline in cognitive and motor functioning. This can include the development of tremor, ataxia, parkinsonism, neuropsychiatric disorder and dementia.

The aim of this project is to determine the prevalence and correlates of neuropsychiatric symptoms associated with the fragile X premutation and FXTAS. Rachael is working under the supervision of A/Prof Julian Trollor (UNSW), Prof Kim Cornish (Monash University) and Dr Darren Hocking (Monash University).

Rachael is receiving support from the Dementia Collaborative Research Centre - Assessment and Better Care (DCRC-ABC) and the NSW Institute of Psychiatry.

Project Portfolio

Back to search results