title: Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome.
abstract: This article summarizes the clinical findings, genetics, pathophysiology, and treatment of fragile X-associated tremor ataxia syndrome. The disorder occurs from a CGG repeat (55-200) expansion in the fragile X mental retardation 1 gene. It manifests clinically in kinetic tremor, gait ataxia, and executive dysfunction, usually in older men who carry the genetic abnormality. The disorder has distinct radiographic and pathologic findings. Symptomatic treatment is beneficial in some patients. The inheritance is X-linked and family members may be at risk for other fragile X-associated disorders. This information is useful to neurologists, general practitioners, and geneticists.
authors.affiliation: Department of Neurological Sciences, Rush University, 1725 West Harrison, Suite 755, Chicago, IL 60612, USA. Electronic address: Deborah_A_Hall@rush.edu.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Hall
authors.forename: Joan A
authors.initials: JA
authors.lastname: O'Keefe
mesh_terms: D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: Ataxia; Fragile X mental retardation 1 gene; Fragile X syndrome