title: 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.affiliation: Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA. randi.hagerman@ucdmc.ucdavis.edu
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: Sarah M
authors.initials: SM
authors.lastname: Coffey
authors.forename: Ricardo
authors.initials: R
authors.lastname: Maselli
authors.forename: Kultida
authors.initials: K
authors.lastname: Soontarapornchai
authors.forename: James A
authors.initials: JA
authors.lastname: Brunberg
authors.forename: Maureen A
authors.initials: MA
authors.lastname: Leehey
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
authors.forename: Louise W
authors.initials: LW
authors.lastname: Gane
authors.forename: Grace
authors.initials: G
authors.lastname: Fenton-Farrell
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Hagerman
mesh_terms: D000368:Aged; D001259:Ataxia / Q000150:complications / Q000503:physiopathology; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010523:Peripheral Nervous System Diseases / Q000150:complications*; D014202:Tremor / Q000150:complications / Q000503:physiopathology