Expanding the expansions in hereditary ataxias
Coding and non-coding expansions are a frequent cause of hereditary ataxias. A coding CAG expansion is the most common cause of dominant ataxia including six different forms (SCA1-3; 6-7; 17). A GAA intronic expansion is the cause of the most common hereditary and recessive ataxia, Friedreich’s disease. Other non-coding expansions are responsible for other rare forms of dominant ataxias (SCA8-10-12-31-36). Cortese et al (2019) by whole genome sequencing identified a new homozygous AAGGG repeat expansion in 29 patients from 11 families with CANVAS.
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