Fragile X-Associated Tremor/Ataxia Syndrome

摘要: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion in the premutation range (55-200) fragile X mental retardation 1 gene. Onset typically early seventh decade, and men are principally affected. The major signs cerebellar gait ataxia, intention tremor, frontal executive dysfunction, global brain atrophy. Other frequent findings parkinsonism (mild), peripheral neuropathy, psychiatric symptoms (depression, anxiety, agitation), autonomic dysfunction. clinical presentation heterogeneous, with individuals presenting varied dominating signs, such as dementia, or neuropathy. Magnetic resonance imaging shows atrophy patchy white matter lesions cerebral hemispheres middle peduncles. latter has been designated peduncle sign, which occurs about 60% of affected men, relatively specific for FXTAS. Affected females generally have less severe disease, cognitive decline, some different from that example, muscle pain. Management FXTAS complex includes assessment patient9s neurological medical deficits, treatment symptoms, provision relevant referrals, especially genetic counseling. Treatment empirical, based on anecdotal experience knowledge what works other disorders also exist Presently, underrecognized because first published report was only 2001 variable mainly consists combination common elderly. However, accurate diagnosis critical patient family they need education regarding their health risks.