General description

Spinocerebellar ataxia 7 (SCA7) is classified as an autosomal dominant disorder, arising from an abnormal expansion of CAG repeats within the Ataxin 7 gene.

The hallmark of SCA 7 is cerebellar ataxia accompanied by progressive vision impairment due to retinal degeneration. This specific constellation of symptoms is considered pathognomonic for SCA7. Notably, the disorder exhibits a significant degree of anticipation, such that affected pediatric patients may manifest symptoms prior to their parents or grandparents, highlighting the variable and progressive nature of the disease's inheritance and expression.