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Profile, Correlates and Predictors of Cognitive Decline in Fragile X Premutation Carriers

Professor Julian Trollor
Research Centre DCRC Assessment and Better Care
Partner Institution UNSW
Project Description

Approximately 1 in 259 females and 1 in 813 males carry the Fragile X premutation, a partially abnormal gene sequence that in future generations has the capability of producing Fragile X syndrome. Whilst not affected by Fragile X syndrome themselves, older male carriers of this premutation have recently been found to develop a specific dementia syndrome associated with tremor and balance problems (Fragile X Tremor Ataxia Syndrome or FXTAS). At present the understanding of this dementia syndrome is in its infancy.

We propose to pilot the first comprehensive longitudinal study of the clinical profile, predictors and correlates of this dementia.

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