AI Article Synopsis
- FXTAS is a genetic disorder caused by a specific mutation in the FMR1 gene that results in symptoms like tremors, ataxia, cognitive decline, and psychiatric issues.
- The disorder can also lead to less common complications such as peripheral neuropathy and autonomic dysfunction, along with significant memory and executive function issues.
- This review discusses updated recommendations for genetic testing in adults, along with the latest research on the clinical, radiological, and treatment aspects of FXTAS.
Article Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by a premutation CGG-repeat expansion in the 5'UTR of the fragile X mental retardation 1 (FMR1) gene. The classical clinical manifestations include tremor, cerebellar ataxia, cognitive decline and psychiatric disorders. Other less frequent features are peripheral neuropathy and autonomic dysfunction. Cognitive decline, a form of frontal subcortical dementia, memory loss and executive function deficits are also characteristics of this disorder. In this review, we present an expansion of recommendations for genetic testing for adults with suspected premutation disorders and provide an update of the clinical, radiological and molecular research of FXTAS, as well as the current research in the treatment for this intractable complex neurodegenerative genetic disorder.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298640 | PMC |
| http://dx.doi.org/10.5582/irdr.2014.01029 | DOI Listing |
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