Article
Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.
Cerebellum (London, England) - 1 Dec 2022
Almansour Asem, Ishiura Hiroyuki, Mitsui Jun, Matsukawa Takashi, Matsukawa Miho Kawabe, Shimizu Hideaki, Sugiyama Atsuhiko, Toda Tatsushi, Tsuji Shoji
Abstract excerpt
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder caused by FMR1 premutation expansion of CGG repeats. FXTAS can be misdiagnosed with many neurodegenerative disorders manifesting with cerebellar ataxias owing to their overlapping clinical and radiological features. The frequency of the FMR1 premutation allele in Japan has not been fully determined. Herein, we aimed...
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