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Abstract
We describe clinical and genetic analysis of a family with spinocerebellar ataxia 17 (SCA17) presenting with a Huntington disease–like (HDL) syndrome. Clinically diagnosed, HD is genetically heterogeneous. Differential diagnosis includes SCA17. However, SCA17 HDL presentation has been observed only sporadically or in solitary individuals within a family. HDL phenotypic homogeneity in SCA17 has not been described. SCA17 can present with a HDL syndrome in multiple family members.
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