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However, to data, no studies have investigated the distribution and role of GCA repeats in the <jats:italic>GLS<\/jats:italic> gene of Chinese individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim was to investigate the distribution of GCA repeats in Chinese individuals, including undiagnosed ataxia patients for identifying causal factors, healthy controls for determining the normal range, and ATX\u2212<jats:italic>ATXN3<\/jats:italic> (spinocerebellar ataxia type 3, SCA3) patients for exploring genetic modifiers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We combined whole\u2010genome sequencing (WGS), repeat\u2010primed polymerase chain reaction, capillary electrophoresis (RP\u2212PCR\/CE), and ExpansionHunter to screen the GCA repeats in the <jats:italic>GLS<\/jats:italic> gene of 349 undiagnosed ataxia individuals, 1505 healthy controls, and 1236 ATX\u2212<jats:italic>ATXN3<\/jats:italic> (SCA3)\u00a0patients from mainland China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No expanded GCA repeats in the <jats:italic>GLS<\/jats:italic> gene were detected across any of the samples. The average number of GCA repeats was 11 (range: 8\u201331), 12 (range: 6\u201333), and 11 (range: 6\u201333) for undiagnosed ataxia patients, healthy controls, and SCA3 patients, respectively. The intermediate repeat size (9\u2009&lt;\u2009repeat size\u2009\u2264\u200913) of the nonexpanded GCA allele in the <jats:italic>GLS<\/jats:italic> gene was associated with later disease onset in ATX\u2212<jats:italic>ATXN3<\/jats:italic> (SCA3) patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Abnormal expansions of <jats:italic>GLS<\/jats:italic> GCA repeats are rare in the Chinese population. However, intermediate\u2010length normal GCA repeat sizes may influence the age at onset (AAO) in ATX\u2010<jats:italic>ATXN3<\/jats:italic> (SCA3) patients. \u00a9 2024 International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.30083","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T07:49:27Z","timestamp":1734594567000},"page":"324-334","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Analysis of <scp>GCA<\/scp> Repeats in the <scp><i>GLS<\/i><\/scp> Gene: Implications for Undiagnosed Ataxia and <scp>Spinocerebellar Ataxia 3<\/scp> in Mainland China"],"prefix":"10.1002","volume":"40","author":[{"given":"Lijing","family":"Lei","sequence":"first","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha P. R. 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