{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:12:07Z","timestamp":1791267127685,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,1,25]],"date-time":"2006-01-25T00:00:00Z","timestamp":1138147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"CMT families"},{"name":"NIH","award":["NS26630"],"award-info":[{"award-number":["NS26630"]}]},{"name":"NINDS grants"},{"name":"Fund for Scientific Research-Flanders"},{"name":"Medical Foundation Queen Elisabeth"},{"DOI":"10.13039\/501100007660","name":"University of Antwerp","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007660","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Interuniversity Attraction Poles program of the Belgian Federal Science Office"},{"DOI":"10.13039\/501100001826","name":"Netherlands Organization for Health Research and Development","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"crossref"}]},{"name":"VA Research Funds"},{"name":"Visiting research fellowships from the POD"},{"name":"NATO\/FWO. a postdoctoral fellow of the FWO, Belgium"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Charcot\u2010Marie\u2010Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neuropathy type VI (HMSN VI). Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has remained elusive.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Here, we describe six HMSN VI families with a subacute onset of optic atrophy and subsequent slow recovery of visual acuity in 60% of the patients. Detailed clinical and genetic studies were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In each pedigree, we identified a unique mutation in the gene mitofusin 2 (\n                      <jats:italic>MFN2<\/jats:italic>\n                      ). In three families, the\n                      <jats:italic>MFN2<\/jats:italic>\n                      mutation occurred\n                      <jats:italic>de novo;<\/jats:italic>\n                      in two families the mutation was subsequently transmitted from father to son indicating autosomal dominant inheritance.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      MFN2 is a mitochondrial membrane protein that was recently reported to cause axonal CMT type 2A. It is intriguing that MFN2 shows functional overlap with optic atrophy 1 (OPA1), the protein underlying the most common form of autosomal dominant optic atrophy, and mitochondrial encoded oxidative phosphorylation components as seen in Leber's hereditary optic atrophy. We conclude that autosomal dominant HMSN VI is caused by mutations in\n                      <jats:italic>MFN2<\/jats:italic>\n                      , emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies. Ann Neurol 2006;59:276\u2013281\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.20797","type":"journal-article","created":{"date-parts":[[2006,1,25]],"date-time":"2006-01-25T17:16:30Z","timestamp":1138209390000},"page":"276-281","source":"Crossref","is-referenced-by-count":308,"title":["Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2"],"prefix":"10.1002","volume":"59","author":[{"given":"Stephan","family":"Z\u00fcchner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"De Jonghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albena","family":"Jordanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristl 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