Article

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

2020-05-22

Abstract excerpt

<title>Abstract</title> <p>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, and cognitive decline, and white matter lesions especially in cerebellar and periventric...

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Literature Corpus work: ad6d5657-ad7a-5f17-aab5-2348435b7052
DOI: 10.21203/rs.3.rs-30288/v1

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