Figure 1.

ATXN10 pedigree of Mexican family

Roman numerals indicate generations to the left of each pedigree. Circles indicate female gender, squares indicate male gender, triangle indicates miscarriage, black symbols indicate affected individuals with SCA10, the red symbol indicates Parkinson's disease, half black symbol indicates SCA10 affected by medical history, and dots in the middle of the symbol mean individuals with ATXN10 repeat expansion but unaffected. Black dots indicate individual with interrupted repeat expansion, and the red dot indicates pure ATTCT repeat expansion. The age range in generation III is 57–74 years and in generation IV is 19–52 years. All individuals in the III and IV generations have been clinically evaluated by F.J.J.G. or J.F.-R. except III.1 (stillbirth) and III.5. In this study, we had DNA available for individuals labeled with an asterisk (∗) for amplification-free sequencing, and individuals labeled with a hash symbol (#) had DNA with high molecular weight quality for Saphyr optical genome mapping. For details of disease, age at disease onset as well as ATXN10 genotypes are listed in Table 1.