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The Cerebellum · 2021 · Vol. 21 · Issue 5 · Springer
The presence of fragile X mental retardation 1 ( FMR1 ) premutation has been linked to patients with a certain type of cerebellar ataxia, the fragile X-associated tremor/ataxia syndrome (FXTAS). However, its prevalence in Japan has yet to be clarified. The aim of the present study is to determine the prevalence of FXTAS in Japanese patients with cerebellar ataxia and to describe their clinical characteristics. DNA samples were...