Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

Clin Interv Aging. 2008;3(2):251-62. doi: 10.2147/cia.s1794.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Aged
  • Aged, 80 and over
  • Ataxia / genetics
  • Ataxia / therapy*
  • Fragile X Mental Retardation Protein / genetics
  • Heredodegenerative Disorders, Nervous System / genetics
  • Heredodegenerative Disorders, Nervous System / therapy*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Parkinsonian Disorders / genetics
  • Parkinsonian Disorders / therapy

Substances

  • Fragile X Mental Retardation Protein