FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-67946-y
Abstract: Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele of 55–200 CGG repeats in the Fragile X mental… read more here.
Keywords: fragile associated; fmr1 locus; tremor ataxia; ataxia syndrome ... See more keywords
Making a Difference—Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.00512
Abstract: Fragile X Tremor Ataxia Syndrome (FXTAS) is a syndrome based on expansion of the repeats of CGG triplets. The symptoms include action tremor and cerebellar gait ataxia. Additionally symptomatology of FXTAS may be associated to… read more here.
Keywords: thalamotomy; tremor ataxia; ataxia syndrome; syndrome fxtas ... See more keywords