Department of Developmental Disability Neuropsychiatry (3DN)

Thinking and Motor Skills in Premutation Carriers of Fragile X

image - Fxtas1
Project Main Description

Fragile X-associated tremor ataxia syndrome (FXTAS) is a recently identified neurodegenerative disorder affecting a proportion of older adults who carry a moderate expansion (also known as a ‘premutation’) of the Fragile X gene. Symptoms of FXTAS include problems with balance, coordination, memory and thinking skills. At present, the understanding of this syndrome, including why some people develop cognitive and motor symptoms and others do not, is in its infancy. We are performing detailed memory and balance tests on adults (aged 18+) who carry the Fragile X premutation to determine the effect of the gene expansion on their health.

Further Information

3DN Strategic Planning Day 2014

Presentation by Rachael Birch

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