Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome Academic Article uri icon


  • 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.


  • Hagerman, Randi J
  • Coffey, Sarah M
  • Maselli, Ricardo
  • Soontarapornchai, Kultida
  • Brunberg, James A
  • Leehey, Maureen A
  • Zhang, Lin
  • Gane, Louise W
  • Fenton-Farrell, Grace
  • Tassone, Flora
  • Hagerman, Paul J

publication date

  • October 1, 2007