Spinocerebellar ataxias: genetic subtypes

Spinocerebellar ataxias are a group of clinically and genetically heterogeneous disorders. We list below an update on all genetic subtypes, including the most recently identified ones, based on mode of inheritance (Table 1: autosomal dominant; Table 2: autosomal recessive; Table 3: X-linked). Chromosomal locus, gene, mutational spectrum and testing methods are given. Because of significant clinical overlap, multigene and multi-method panel testing is recommeded. To see all our spinocerebellar ataxia panels available for testing click here.

Table 1 – Autosomal dominant spinocerebellar ataxias

Legend: RE: repeat expansion; P: punctiform (single nucleotide variations, small indels); D: large deletions or duplications; I: large insertion; FLA/RPA: fragment length analysis/repeat primed assay; Seq: sequencing; Del/dup: large deletions/duplications testing (MLPA/qPCR); the question point (?) indicates that the mutation has been detected in one single family or one single patient, so that the subtype needs to be confirmed.

Tabella 2 – Autosomal recessive spinocerebellar ataxias

Legend: RE: repeat expansion; P: punctiform (single nucleotide variations, small indels); D: large deletions or duplications; I: large insertion; FLA/RPA: fragment length analysis/repeat primed assay; Seq: sequencing; Del/dup: large deletions/duplications testing (MLPA/qPCR); the question point (?) indicates that the mutation has been detected in one single family or one single patient, so that the subtype needs to be confirmed.

Table 3 – X-linked spinocerebellar ataxias

Legend: RE: repeat expansion; P: punctiform (single nucleotide variations, small indels); I: large insertion; FLA/RPA: fragment length analysis/repeat primed assay; Seq: sequencing.