Long-term improvement of tremor and ataxia after bilateral DBS of V o P/zona incerta in FXTAS

Abstract excerpt

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an X-linked adult-onset neurodegenerative disorder that affects carriers of the fragile X mental retardation 1 ( FMR1 ) gene premutation, which is a 55–200 CGG repeat expansion in the 5ʹ untranslated region of the gene.1 The core symptoms of FXTAS are progressive intention tremor and cerebellar ataxia. These symptoms can be disabling and, when combined,...

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