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- W2897058369 abstract "Spinocerebellar ataxia type 2 (SCA2), an autosomal dominant cerebellar disorder belonging to the polyglutamine (polyQ) diseases, is characterized by progressive ataxia, slow saccadic eye movement, hyporeflexia, peripheral neuropathy, and pyramidal and extrapyramidal signs.1 The cause of SCA2 is a CAG repeat expansion, sometimes interrupted by CAA within, in ATXN2 on chromosome 12q24.2,3 Previous reports have shown that the presence of 33 or more heterozygous trinucleotide repeats is pathogenic, whereas 14 to 31 repeats is normal.3,4 We report a case of late-onset SCA2 with homozygous alleles of 31 trinucleotide repeats in ATXN2 ." @default.
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- W2897058369 date "2018-10-16" @default.
- W2897058369 modified "2023-09-23" @default.
- W2897058369 title "Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia" @default.
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- W2897058369 doi "https://doi.org/10.1212/nxg.0000000000000283" @default.
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