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

Abstract

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.

• Authors: Randi J Hagerman, Sarah M Coffey, Ricardo Maselli, Kultida Soontarapornchai, James A Brunberg, Maureen A Leehey, Lin Zhang, Louise W Gane, Grace Fenton-Farrell, Flora Tassone, Paul J Hagerman
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 19 Pg. 2256-60 (Oct 01 2007) ISSN: 1552-4825 [Print] United States
• PMID: 17726686 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: 2007 Wiley-Liss, Inc

Topics

• Aged
• Ataxia (complications, physiopathology)
• Female
• Fragile X Syndrome (complications, physiopathology)
• Humans
• Male
• Middle Aged
• Peripheral Nervous System Diseases (complications)
• Tremor (complications, physiopathology)