Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms
João Moura,
Jorge Oliveira,
Mariana Santos
et al.
Abstract:Spinocerebellar ataxias (SCA) are most frequently due to (CAG)n (coding for polyglutamine, polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) or other type of variants (non-repeat expansion SCA). In this study we compared polyQ and non-repeat expansion SCA, in a cohort of patients with hereditary ataxia followed at a tertiary hospital. From a prospective study, 88 patients (51 families) with SCA were selected, 74 (40 families) of whom genetically diagnosed.
Thirty-eight p… Show more
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