Fragile X-associated tremor/ataxia syndrome

Tidsskr Nor Laegeforen. 2017 Oct 30;137(20). doi: 10.4045/tidsskr.17.0317. Print 2017 Oct 31.
[Article in English, Norwegian]

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There is reason to believe that too few individuals in Norway undergo testing for this condition.

Publication types

  • Review

MeSH terms

  • Ataxia / diagnosis*
  • Ataxia / drug therapy
  • Ataxia / epidemiology
  • Ataxia / genetics*
  • Diagnosis, Differential
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / drug therapy
  • Fragile X Syndrome / epidemiology
  • Fragile X Syndrome / genetics*
  • Humans
  • Norway / epidemiology
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / drug therapy
  • Parkinsonian Disorders / epidemiology
  • Parkinsonian Disorders / genetics
  • Tremor / diagnosis*
  • Tremor / drug therapy
  • Tremor / epidemiology
  • Tremor / genetics*

Supplementary concepts

  • Fragile X Tremor Ataxia Syndrome