Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome

Am J Med Genet A. 2007 Oct 1;143A(19):2256-60. doi: 10.1002/ajmg.a.31920.


Peripheral neuropathy is common among patients with fragile X-associated tremor ataxia syndrome (FXTAS). Four patients with FXTAS are described with neuropathy as the presenting feature, two having received a prior diagnosis of Charcot-Marie-Tooth (CMT) disease. A fifth is described with neuropathy as the only clinical feature. A functional connection between FXTAS and neuropathy has been suggested by the presence of lamin A/C in the intranuclear, neuronal and astrocytic inclusions of FXTAS, since mutations in lamin A/C are known to give rise to an axonal form of CMT.

Publication types

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

MeSH terms

  • Aged
  • Ataxia / complications
  • Ataxia / physiopathology
  • Female
  • Fragile X Syndrome / complications
  • Fragile X Syndrome / physiopathology*
  • Humans
  • Male
  • Middle Aged
  • Peripheral Nervous System Diseases / complications*
  • Tremor / complications
  • Tremor / physiopathology