{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T13:59:11Z","timestamp":1747144751249,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:00:00Z","timestamp":1703548800000},"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":["82271903"],"award-info":[{"award-number":["82271903"]}],"id":[{"id":"10.13039\/501100001809","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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Movement disorders manifest in various hereditary neurodegenerative diseases. We reported a young man who presented with progressive upper limb dystonia, spastic tetraplegia, and ataxia. Whole\u2010exome sequencing (WES) revealed a novel variant, c.2357A\u2009&gt;\u2009G, in the dynamin domain of <jats:italic>OPA1<\/jats:italic>. No mtDNA deletion was detected in muscle by long\u2010range PCR. Atrophy and decreased glucose metabolism of the basal ganglia were discovered. Decreased mtDNA copy number, fragmented mitochondria, slightly impaired oxidative phosphorylation, and increased autophagy were detected in mutant fibroblasts. Evident oxidative phosphorylation impairment and mtDNA deletions were not involved in the pathogenicity of this mutation unlike mutations in the GTPase domain of <jats:italic>OPA1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/acn3.51981","type":"journal-article","created":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T06:04:09Z","timestamp":1703657049000},"page":"800-805","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Dystonia, spastic tetraplegia, and ataxia due to a novel mutation in the dynamin domain of <scp><i>OPA1<\/i><\/scp>"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4018-6984","authenticated-orcid":false,"given":"YuZhi","family":"Shi","sequence":"first","affiliation":[{"name":"Department of Neurology Beijing Tiantan Hospital, Capital Medical University  Beijing 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