This chapter reviews research on the neuropsychological and psychiatric signs and symptoms of the fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize what is known about cognition and psychological/psychiatric functioning in affected individuals, as well as asymptomatic carriers of the FMR1 premutation. The neuropsychological impairment associated with FXTAS primarily involves impaired executive functioning. Hence, one frequently observes disorders of behavioral self-regulation, planning, inhibition, working memory, and information processing. These deficits appear to interact with, and contribute to, comorbid psychiatric symptomatology such as anxiety, depression, impulsivity, apathy, irritability, and agitation. Most studies to date have been cross-sectional, and it is difficult to draw inferences regarding the progression and timing of cognitive decline in FXTAS. Moreover, as some individuals with early stage FXTAS have minimal or no cognitive/psychiatric impairment, even in the presence of significant neurological deficits, these manifestations of the disorder may be quite heterogeneous. Further research will enhance our understanding of the temporal and symptomatic relationships between neuropsychological and neurological findings, and of other genetic, epigenetic, and environmental variables that determine the development, course, penetrance, and severity of FXTAS.
- Cognition disorders
- FMR1 gene
- Fragile X premutation
- Fragile X-associated tremor/ataxia syndrome
- Movement disorders
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)