Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers

Cerebellum. 2016 Oct;15(5):578-86. doi: 10.1007/s12311-016-0799-4.

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequently in men. This paper summarizes the key emerging issues in FXTAS as presented at the Second International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2015. The topics discussed include phenotype-genotype relationships, neurobehavioral function, and updates on FXTAS genetics and imaging.

Keywords: Cognition; FMR1 genetics; FMR1 premutation; Fragile X-associated tremor/ataxia syndrome (FXTAS); Neuroimaging.

Publication types

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

MeSH terms

  • Animals
  • Ataxia / diagnostic imaging*
  • Ataxia / genetics
  • Ataxia / physiopathology*
  • Ataxia / therapy
  • Congresses as Topic
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / diagnostic imaging*
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / physiopathology*
  • Fragile X Syndrome / therapy
  • Heterozygote*
  • Humans
  • Phenotype
  • Tremor / diagnostic imaging*
  • Tremor / genetics
  • Tremor / physiopathology*
  • Tremor / therapy

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein

Supplementary concepts

  • Fragile X Tremor Ataxia Syndrome