Work

Novel ATXN10 Repeat Motif Patterns in Peruvian Families Modify Disease Onset

Year: 2025

Type: article

Abstract: Objectives: gene. While various repeat motifs have been described, emerging evidence suggests that specific repeat motifs, rather than repeat length alone, can modify disease features such as seizure prevalence and penetrance. Methods: repeat motif patterns and investigated genotype-phenotype correlations in index cases of 6 multigenerational SCA10 kindreds from Peru. Results: , which were associated with differences in age at disease onset and anticipation. Discussion: Our key novel finding is the prominence of the alternate ATTCC motif alongside the common ATTCT motif. While repeat length alone does not appear to drive disease onset in SCA10, we uncovered that the ratio of the ATTCC motif within distinct repeat patterns might correlate with disease onset. These findings underscore the need to adapt LRS clinical workflows to fully characterize large repeat expansions at the nucleotide level.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000200316