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The α1A voltage-dependent calcium-channel (Ca v 2.1) gene, the causative gene for spinocerebellar ataxia type 6 (SCA6), is transcribed into two major mRNA isoforms by alternative splicing at the intron 46–exon 47 boundary. One isoform has a stop codon upstream of the CAG repeat. The other “toxic isoform” has an alternatively spliced 5-nucleotide (GGCAG) insertion at the beginning of exon 47...
In order to clarify the clinical and genetic features of SCA6, we retrospectively analyzed 140 patients. We observed an inverse correlation between the age of onset and the length of the expanded allele, and also between the age of onset and the sum of CAG repeats in the normal and the expanded alleles. The ages of onset of four homozygous patients correlated better with the sum of CAG repeats in...
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