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| Content Provider | Springer Nature Link |
|---|---|
| Author | Birch, R. C. Cornish, K. M. Hocking, D. R. Trollor, J. N. |
| Copyright Year | 2014 |
| 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. |
| Starting Page | 491 |
| Ending Page | 513 |
| Page Count | 23 |
| File Format | |
| ISSN | 10407308 |
| Journal | Neuropsychology Review |
| Volume Number | 24 |
| Issue Number | 4 |
| e-ISSN | 15736660 |
| Language | English |
| Publisher | Springer US |
| Publisher Date | 2014-05-15 |
| Publisher Place | Boston |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Fragile X-associated tremor ataxia syndrome FMR1 premutation Fronto-subcortical Cognition disorders Systematic review Neurosciences Neuropsychology Neurology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neuropsychology and Physiological Psychology |
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