Movement disorders in Friedreich's ataxia.
Since the discovery of the gene mutation causing Friedreich's ataxia (FA), the rich spectrum of clinical manifestations of this autosomal recessive disorder is being increasingly recognized. Movement disorders besides ataxia, however, have not been fully characterized in patients with FA. We describe here two young male patients who, in addition to progressive ataxia, kinetic tremor and other typical features of FA, also manifest axial and limb dystonia. The primary purpose of this report is to draw attention to the broad spectrum of hyperkinetic movement disorders that can present as or be associated with FA.
Hou
Jyh-Gong Gabriel
JG
Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, 6550 Fannin, #1801, Houston, TX 77030, USA.
Jankovic
Joseph
J
D000293:Adolescent; D000328:Adult; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000145:classification / Q000209:etiology* / Q000503:physiopathology*; D010375:Pedigree