SCAs KIT-FL

Autosomal dominant spinocerebellar ataxias (SCAs) are a group of clinically and genetically heterogeneous neurodegenerative diseases characterized by ataxic gait, slow progressing ataxia of posture and limbs, dysarthria and/or oculomotor disorders, caused by cerebellar degeneration in absence of other pathologies. To date, 47 SCA subtypes have been described. Causative mutations of SCA are represented by CAG triplet expansions in coding regions of some genes, by nucleotide expansions in non-coding regions of genes and by conventional mutations. Expansion SCAs are more frequent and more severe than those caused by conventional mutations, which however often present with more severe cerebellar atrophy. The SCA1, 2, 3, 6 and 7, considered together, are the most prevalent autosomal dominant spinocerebellar ataxias in the world, accounting for about 60% of the total.

The SCAs kit - FL is used for the amplification by TP-PCR of the CAG polymorphic repeat contained in the genes ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7; this product is used in the molecular study of spinocerebellar ataxias types 1, 2, 3, 6 and 7 (SCA1, SCA2, SCA3, SCA6, SCA7).