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The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10

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Background: Spinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the role of presence (ATTCTint +) and absence (ATTCTint-) of interruptions in the repeat is not clear. ... ...