Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways

BACKGROUND: Smaller expansions of CGG trinucleotide repeats in the FMR1 X-linked gene termed ‘premutation’ lead to a neurodegenerative disorder: Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) in nearly half of aged carrier males, and 8–16% females. Core features include intention tremor, ataxia...

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Publicat a:Cerebellum Ataxias
Autors principals: Storey, Elsdon, Bui, Minh Q., Stimpson, Paige, Tassone, Flora, Atkinson, Anna, Loesch, Danuta Z.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8196444/
https://ncbi.nlm.nih.gov/pubmed/34116720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-021-00138-0
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