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

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

Research output: Contribution to journalArticle

43 Scopus citations

Abstract

Peripheral neuropathy is common among patients with fragile X-associated tremor ataxia syndrome (FXTAS). Four patients wdth 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.

Original languageEnglish (US)
Pages (from-to)2256-2260
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number19
DOIs
StatePublished - Oct 1 2007

Keywords

  • Ataxia
  • FMR1
  • Fragile X
  • Fragile X-associated tremor/ataxia syndrome
  • Neuropathy
  • Tremor

ASJC Scopus subject areas

  • Genetics(clinical)

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