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Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo\u2010homozygous missense variant and <jats:italic>Alu<\/jats:italic>\u2010mediated exon 5 deletion in <jats:italic>FARS2<\/jats:italic>. Both patients gradually developed altered gaits and weakness in both lower limbs. In our literature review, spastic paraplegia type 77 shows high heterogeneity in clinical manifestations. Our study broadens the scope of pathogenic mechanisms of SPG77 resulting from compound heterozygous mutations in <jats:italic>FARS2<\/jats:italic> and provides strong evidence that deletion in <jats:italic>FARS2<\/jats:italic> due to recombination event mediated by Alu element.<\/jats:p>","DOI":"10.1002\/acn3.52195","type":"journal-article","created":{"date-parts":[[2024,9,29]],"date-time":"2024-09-29T05:39:26Z","timestamp":1727588366000},"page":"3019-3024","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A pseudo\u2010homozygous missense variant and <i>Alu<\/i>\u2010mediated exon 5 deletion in <scp><i>FARS2<\/i><\/scp> causing spastic paraplegia 77"],"prefix":"10.1002","volume":"11","author":[{"given":"Shu\u2010Huai","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University  Fuzhou 350005 China"},{"name":"Department of Neurology National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University  Fuzhou 350212 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010Hao","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University  Fuzhou 350005 China"},{"name":"Department of Neurology National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University  Fuzhou 350212 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010Yi","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University  Fuzhou 350005 China"},{"name":"Department of Neurology National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University  Fuzhou 350212 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin\u2010Yu","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University  Fuzhou 350005 China"},{"name":"Department of Neurology National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University  Fuzhou 350212 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao\u2010Yin","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University  Fuzhou 350005 China"},{"name":"Department of Neurology National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University  Fuzhou 350212 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9472-8494","authenticated-orcid":false,"given":"Wan\u2010Jin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University  Fuzhou 350005 China"},{"name":"Department of Neurology National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University  Fuzhou 350212 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