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Multiple genes and mutations have been reported to be associated with this disorder. Identification of pathogenic genes can facilitate diagnosis of leukodystrophy and development of therapeutic strategies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A case was presented with clinical examinations. Exome sequencing was applied to identify potential mutations. Sanger sequencing of blood DNA was applied to confirm the mutation and to examine additional members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We reported a Chinese male patient of adult\u2010onset leukodystrophy. Genetic examinations identified a homozygous mutation, c. 452T&gt;C (p. M151T), in alanyl\u2010tRNA synthetase 2 (<jats:italic>AARS2<\/jats:italic>) in the patient. The disease was autosomal recessive as suggested by the genotypic analyses of his family members. We also reviewed phenotypic spectra of <jats:italic>AARS2<\/jats:italic> mutation\u2010associated leukodystrophies from a total of 16 reported cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our data provide further evidence that mutations of <jats:italic>AARS2<\/jats:italic> are implicated in adult\u2010onset leukodystrophy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.1313","type":"journal-article","created":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T12:30:09Z","timestamp":1558355409000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A homozygous mutation of alanyl\u2010transfer RNA synthetase 2 in a patient of adult\u2010onset leukodystrophy: A case report and literature review"],"prefix":"10.1002","volume":"9","author":[{"given":"Jian\u2010Yong","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Geriatrics &amp; Neurology The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University Wenzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song\u2010Fang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Geriatrics &amp; Neurology The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University Wenzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong\u2010Qiu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, School of Public Health Wenzhou Medical University Wenzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng\u2010Yan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Geriatrics &amp; Neurology The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University Wenzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9412-8264","authenticated-orcid":false,"given":"Jian\u2010Hong","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Geriatrics &amp; Neurology The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University Wenzhou Zhejiang China"},{"name":"Department of Preventive Medicine, School of Public Health Wenzhou Medical University Wenzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Geriatrics &amp; Neurology The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University Wenzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,20]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/NRL.0b013e3181b287c8"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000497"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-141026"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2015.00021"},{"key":"e_1_2_11_6_1","article-title":"Aminoacyl\u2010tRNA synthetase deficiencies in search of common themes","author":"Fuchs S. 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