Overview of repeats

Expansions in the ATXN3 gene cause spinocerebellar ataxia type 3 (SCA3), also known as the Machado-Joseph disease (MJD) which is a neurodegenerative disease (Kawaguchi et al., 1994). The normal range of CAG repeats is from 12 to 44, whereas in affected individuals it has been found to be in 56-87 repeats range (McLoughlin et al., 2020). Repeats in the range of 45-55 have shown to present incomplete penetrance of disease's symptoms and can be considered as the intermediate range (Ashizawa et al., 2018).

→ View STRipy's population-wide repeat data for ATXN3 locus