{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T15:02:19Z","timestamp":1783695739127,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82160252"],"award-info":[{"award-number":["82160252"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271439"],"award-info":[{"award-number":["82271439"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004479","name":"Natural Science Foundation of Jiangxi Province","doi-asserted-by":"publisher","award":["20224ACB206015"],"award-info":[{"award-number":["20224ACB206015"]}],"id":[{"id":"10.13039\/501100004479","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biallelic mutations in the coenzyme Q7 (COQ7) encoding gene were recently identified as a genetic cause of distal hereditary motor neuropathy. Here, we explored the clinical, electrophysiological, pathological, and genetic characteristics of a Chinese patient with spastic paraplegia associated with recessive variants in <jats:italic>COQ7<\/jats:italic>. This patient carried a novel c.322C&gt;A (p.Pro108Thr) homozygous variant. Sural biopsy revealed mild mixed axonal and demyelinating degeneration. Immunoblotting showed a significant decrease in the COQ7 protein level in the patient's fibroblasts. This study confirmed that <jats:italic>COQ7<\/jats:italic> variant as a genetic cause of HSP, and further extended spastic paraplegia to the phenotypic spectrum of <jats:italic>COQ7<\/jats:italic>\u2010related disorders.<\/jats:p>","DOI":"10.1002\/acn3.52037","type":"journal-article","created":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T06:47:09Z","timestamp":1709621229000},"page":"1067-1074","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Homozygous variant in <scp><i>COQ7<\/i><\/scp> causes autosomal recessive hereditary spastic paraplegia"],"prefix":"10.1002","volume":"11","author":[{"given":"Yusen","family":"Qiu","sequence":"first","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang China"},{"name":"Rare Disease Center The First Affiliated Hospital of Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lulu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang China"},{"name":"Rare Disease Center The First Affiliated Hospital of Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dandan","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang China"},{"name":"Rare Disease Center The First Affiliated Hospital of Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1380-3534","authenticated-orcid":false,"given":"Daojun","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang China"},{"name":"Rare Disease Center The First Affiliated Hospital of Nanchang University  Nanchang China"},{"name":"Institute of Neurology, Jiangxi Academy of Clinical Medical Science, The First Affiliated Hospital, Jiangxi Medical College Nanchang University  Nanchang China"},{"name":"Key Laboratory of Rare Neurological Diseases of Jiangxi Provincial Health Commission, Jiangxi Medical College Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30235-2"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24611"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/antiox12071469"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2022.12.006"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61983"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad040"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad212"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad158"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.107630"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1313"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26394"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2022.10.003"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-023-06707-x"}],"container-title":["Annals of Clinical and Translational 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