AI Article Synopsis
- Spinocerebellar ataxia type 1 (SCA1) is prevalent in China, but there was limited research on CAT interruptions in this population.
- In a study, CAT interrupted pathogenic alleles were found in 5.1% of Chinese SCA1 families, showcasing a higher median of CAG repeats compared to those without interruptions and a later age of onset.
- The differences in the interruption patterns between Chinese and Caucasian cohorts suggest that genetic variations may be influenced by race.
Article Abstract
Spinocerebellar ataxia type 1 (SCA1) is the third most common type of spinocerebellar ataxias in China. CAT interruptions in the pathogenic alleles of SCA1 patients had only been reported by limited documents and there was a lack of data based on the Chinese population. In this study, we detected CAT interrupted pathogenic alleles in SCA1 patients from 4 out of 79 (5.1%) Chinese families. Their total CAG repeats were larger (median 58 vs. 47, p < 0.001) but ages at onset were later (median 46 vs. 38, p = 0.020). The longest uninterrupted CAG repeats could explain 65.4% of the AAO variance, making an increase of 28.0% compared to the total CAG repeats. The interruption pattern was greatly different between Chinese cohort and Caucasian cohort, indicating the effect of race.
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| http://dx.doi.org/10.1007/s12311-023-01586-6 | DOI Listing |
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