Abnormal <scp>RNA</scp> structures (<scp>RNA</scp> foci) containing a penta‐nucleotide repeat (<scp>UGGAA</scp>)_n in the <scp>P</scp>urkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis

Abstract excerpt

Spinocerebellar ataxia type 31 (SCA31) is an autosomal-dominant cerebellar ataxia showing a Purkinje cell (PC)-predominant neurodegeneration in humans. The mutation is a complex penta-nucleotide repeat containing (TGGAA)n , (TAGAA)n , (TAAAA)n and (TAGAATAAAA)n inserted in an intron shared by two different genes BEAN1 and TK2 located in the long arm of the human chromosome 16. Previous studies have shown that...

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