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Expanded ATXN10 Alleles in Neurodegenerative Disorders: A Case Series and Review of the Literature.

2026-08-08, Movement disorders clinical practice (10.1002/mdc3.70765) (online)
Birgitt Schüle, Mario Cornejo-Olivas, Elison H Sarapura-Castro, Egor Dolzhenko, Maryenela Illanes-Manrique, Wanqiong Qiao, Angelica Raney, Alonso Abad, Kamilla Sedov, Harmony M Sosa, Carla Manrique-Enciso, C Alejandra Morato Torres, and Andrea Rivera-Valdivia (?)
Spinocerebellar ataxia type 10 (SCA10 or ATX-ATXN10) is typically attributed to large intronic ATTCT repeat expansions in ATXN10, yet interpretation is complicated by repeat interruptions, reduced penetrance, and assay limitations.
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