Fragile X–associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS.

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism spectrum disorder (ASD). It results from the expansion of the CGG trinucleotide repeats (>200) in the promoter region of the fragile X mental retardation 1 (FMR1) gene, located at Xq27.3 [1].

2024年6月7日 · Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder resulting from a fragile X “premutation”, defined as 55-200 CGG repeats in the 5’-untranslated region of the FMR1 gene 1. The premutation can expand in subsequent generations (during oogenesis) to a full mutation causing fragile X syndrome.

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