Journal
CLINICAL INTERVENTIONS IN AGING
Volume 3, Issue 2, Pages 251-262Publisher
DOVE MEDICAL PRESS LTD
DOI: 10.2147/CIA.S1794
Keywords
fragile X syndrome; dementia; ataxia; neurodegeneration; parkinsonism; tremor
Categories
Funding
- National Institutes of Health [HD036071, HD02274, NS044299, NS052487, UL1RR024922, RL1AG032115]
- Centers for Disease Control and Prevention [U10/CCU925123]
- Coleman Foundation
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [R01HD036071, P30HD002274] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR024922] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [K23NS052487, R01NS044299] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [RL1AG032115] Funding Source: NIH RePORTER
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease) that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently known regarding the symptomatic treatment, or potential for treatment, of FXTAS.
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