Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome.
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
RJ
Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA. randi.hagerman@ucdmc.ucdavis.edu
Coffey
Sarah M
SM
Maselli
Ricardo
R
Soontarapornchai
Kultida
K
Brunberg
James A
JA
Leehey
Maureen A
MA
Zhang
Lin
L
Gane
Louise W
LW
Fenton-Farrell
Grace
G
Tassone
Flora
F
Hagerman
Paul J
PJ
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