CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1

Ya-Ru Shao; Jin-Yang Yu; Yin Ma; Yi Dong; Zhi-Ying Wu

doi:10.1007/s12311-023-01586-6

CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1

Cerebellum. 2023 Jul 25. doi: 10.1007/s12311-023-01586-6. Online ahead of print.

Authors

Ya-Ru Shao¹, Jin-Yang Yu¹, Yin Ma¹, Yi Dong^{1

2}, Zhi-Ying Wu^{3

4}

Affiliations

¹ Department of Neurology and Department of Medical Genetics in the Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, China.
² Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
³ Department of Neurology and Department of Medical Genetics in the Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, China. zhiyingwu@zju.edu.cn.
⁴ MOE Frontier Science Center for Brain Research and Brain-Machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou, China. zhiyingwu@zju.edu.cn.

PMID: 37491649
DOI: 10.1007/s12311-023-01586-6

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.

Keywords: CAT interruption; Chinese; Protective factor; Spinocerebellar ataxia type 1.