Article
Screening for the presence of FMR1 premutation alleles in women with parkinsonism.
Archives of neurology - 1 Feb 2009
Cilia Roberto, Kraff Jeremy, Canesi Margherita, Pezzoli Gianni, Goldwurm Stefano, Amiri Khalid, Tang Hiu-Tung, Pan Ruiqin, Hagerman Paul J, Tassone Flora
Abstract excerpt
BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive, late-onset neurodegenerative disease that affects older carriers of premutation (CGG) repeat expansions of the fragile X mental retardation 1 (FMR1) gene. Clinical features include intention tremor, gait ataxia, memory loss, peripheral neuropathy, autonomic dysfunction, and parkinsonism. The presence of parkinsonism in FXTAS raises...
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