fMRI in fragile X premutation carriers
Research type
Research Study
Full title
Identifying early signs of the fragile X-associated tremor ataxia syndrome (FXTAS): a cross-sectional study
IRAS ID
151293
Contact name
Stephanie Brown
Contact email
Sponsor organisation
University of Edinburgh
Research summary
The fragile x-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disease which affects some carriers of a specific mutation in the Fragile X gene. The mutation involved in FXTAS is known as the Fragile X premutation, as transmission of the gene often results in offspring with Fragile X Syndrome. Clinical presentation of FXTAS is varied, but mainly involves tremor, unsteadiness and cognitive decline affecting memory, inhibitory behaviour and decision making processes. Premutation status also has other effects, with premutation carriers having increased rates of autistic traits and psychiatric symptoms throughout their life-span.
Our aim in this proposed study is to characterise the stable and progressive psychiatric and neurological features associated with carrying the fragile X premutation.
To undertake this study, we plan to recruit approximately 40 premutation carriers, aged between 20-70 years old, and a control group derived from their relatives where possible. Participants will undergo blood testing to assess genetic factors which may relate to their difficulties. Neuropsychological assessments will be utilised to test cognitive function, and clinical assessments will be utilised to measure psychiatric symptoms, autistic traits and motor function. Participants will also undergo functional brain scanning, where we will use 3 test paradigms to assess brain activation in response to motor, decision-making and emotional tasks.
We will examine for differences between premutation carriers and controls in the relationship between age and each measure of interest. This cohort will also form the basis of a longitudinal study to confirm these cross-sectional findings.REC name
South East Scotland REC 01
REC reference
14/SS/0094
Date of REC Opinion
25 Jun 2014
REC opinion
Further Information Favourable Opinion