Article

Long-read sequencing reveals extensive <i>FMR1</i> somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain

2025-10-09

Abstract excerpt

Fragile X–associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a CGG repeat expansion in the 5’ untranslated region of the X-linked Fragile X messenger ribonucleoprotein 1 ( FMR1) . Although the CGG repeat tract is known for instability that has been posited to contribute to clinical heterogeneity, the extent of somatic variation in human brain remains unclear, in part d...

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Literature Corpus work: d1380f94-9de8-52cd-aaab-b9c492a21355
DOI: 10.1101/2025.10.07.678589

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