Lifespan changes in working memory in fragile X premutation males
Kim M Cornish1, Cary S Kogan, Lexin Li
1Neuroscience Laboratory for Research and Education in Developmental Disorders, McGill University, 3700 McTavish Street, Montreal, Que., Canada. kim.cornish@mcgill.ca
Brain and Cognition
|December 31, 2008
Summary
Fragile X premutation males show executive memory deficits, particularly in manipulating information. This vulnerability exists even without Fragile X-associated tremor/ataxia syndrome (FXTAS) symptoms, with larger repeat sizes linked to worse central executive working memory.
Area of Science:
- Neurogenetics
- Cognitive Neuroscience
- Developmental Disorders
Background:
- Fragile X syndrome, caused by FMR1 gene silencing, is a leading genetic cause of developmental delay.
- Fragile X premutation carriers may exhibit subtle executive cognitive deficits.
- Age-related cognitive decline in premutation males is understudied.
Purpose of the Study:
- To investigate working memory performance in males with Fragile X premutation.
- To examine the impact of Fragile X-associated tremor/ataxia syndrome (FXTAS) on cognitive function.
- To explore the relationship between CGG repeat size and working memory in asymptomatic carriers.
Main Methods:
- A cohort of males aged 18-69 with Fragile X premutation were assessed.
- Participants were matched for age and IQ with unaffected controls.
- Cognitive performance, focusing on working memory subcomponents, was evaluated in relation to FXTAS status and CGG repeat size.
Main Results:
- Premutation males demonstrated executive memory impairments, especially in tasks requiring information manipulation and storage.
- This executive control vulnerability was present irrespective of FXTAS symptoms.
- Males with FXTAS showed broader deficits, including phonological working memory.
- A correlation between larger CGG repeat size and impaired central executive working memory was found in asymptomatic carriers.
Conclusions:
- Fragile X premutation is associated with specific executive working memory vulnerabilities.
- FXTAS exacerbates cognitive deficits in premutation carriers.
- CGG repeat expansion is a risk factor for cognitive decline in asymptomatic premutation males.
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