Understanding the Neuropsychiatric Phenotype of Fragile X-Associated Tremor Ataxia Syndrome

a Systematic Review

R. C. Birch, K. M. Cornish, D. R. Hocking, J. N. Trollor*

*Corresponding author for this work

Research output: Contribution to journalReview article

12 Citations (Scopus)

Abstract

Fragile X-associated tremor ataxia syndrome (FXTAS) is a recently identified X-linked neurodegenerative disorder affecting a proportion of premutation carriers of the Fragile X Mental Retardation 1 (FMR1) gene. Previous research suggests that cognitive and psychiatric features of FXTAS may include primary impairments in executive function and increased vulnerability to mood and anxiety disorders. A number of these reports, however, are based on overlapping cohorts or have produced inconsistent findings. A systematic review was therefore conducted to further elucidate the neuropsychiatric features characteristic of FXTAS. Fourteen papers met inclusion criteria for the review and were considered to represent nine independent FXTAS cohorts. Findings from the review suggest that the neuropsychiatric phenotype of FXTAS is characterised primarily by poorer performance on measures of executive function, working memory, information processing speed, and fine motor control when compared to matched comparison groups. Two studies were identified in which psychiatric symptoms in FXTAS were compared with controls, and these yielded mixed results. Overall the results of this review support previous reports that the neuropsychiatric profile of FXTAS is consistent with a dysexecutive fronto-subcortical syndrome. However, additional controlled studies are required to progress our understanding of FXTAS and how the neuropsychiatric profile relates to underlying pathological mechanisms.

Original languageEnglish
Pages (from-to)491-513
Number of pages23
JournalNeuropsychology Review
Volume24
Issue number4
DOIs
Publication statusPublished - Dec 2014
Externally publishedYes

Keywords

  • Cognition disorders
  • FMR1 premutation
  • Fragile X-associated tremor ataxia syndrome
  • Fronto-subcortical
  • Systematic review

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