Article

Somatic instability of the<i>FGF14</i>-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

2024-07-03

Abstract excerpt

Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant ataxia caused by an intronic GAA•TTC repeat expansion in FGF14 . Neuropathological studies have shown that neuronal loss is largely restricted to the cerebellum. Although the repeat locus is highly unstable during intergenerational transmission, it remains unknown whether it exhibits cerebral mosaicism and progressive instability throughout life. W...

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Literature Corpus work: e6f1cbe4-4447-51f0-a3b4-a26d2b132df8
DOI: 10.1101/2024.07.01.24309777

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