STRs database » ATXN10 locus

Overview of repeats

Expansions of pentanucleotide ATTCT repeats in an intron of the ATXN10 gene are responsible for the development of spinocerebellar ataxia type 10 (SCA10) as reported by Matsuura et al. (2000, 2006). They reported that the number of repeats in a healthy population was between 10 and 29, whereas pathological repeats in affected individuals were in the range of 800-4500 (Matsuura et al. (2000); Matsuura et al. (2006)). Apart from that, there is also evidence of repeat lengths with reduced penetrance. For example, an affected individual was identified with a 400 repeat expansion, whereas her siblings with 360 repeats and the father with 370 repeats were unaffected (Alonso et al. (2006)). Also, a patient with early-onset ataxia was described, having 280 ATTCT repeats, while her mother was unaffected with the same repeat length (Matsuura et al. (2006)). Due to the huge variability, we have specified here an intermediate range between 30-799.

Subsequent family studies identified differences in repeat composition. In a Mexican family, Morato Torres et al. (2022) observed ataxia and epilepsy in carriers of mixed ATTCT/ATTCC expansions, whereas carriers of pure ATTCT expansions were unaffected or had Parkinson disease. In six Peruvian kindreds, Sedov et al. (2025) reported expansions of 990-2002 repeats with three mixed ATTCT/ATTCC configurations; the authors associated differences in motif proportions with age at onset and anticipation.

→ View STRipy's population-wide repeat data for ATXN10 locus