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- W2163382163 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." @default.
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- W2163382163 date "2006-11-13" @default.
- W2163382163 modified "2023-09-26" @default.
- W2163382163 title "Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family" @default.
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- W2163382163 doi "https://doi.org/10.1212/01.wnl.0000242740.01273.00" @default.
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