{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T16:20:08Z","timestamp":1770481208074,"version":"3.49.0"},"reference-count":21,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cerebrovasc Dis"],"published-print":{"date-parts":[[2007]]},"abstract":"<i>Objectives:<\/i> Recent studies indicate that <i>Notch3<\/i> gene mutations not only manifest as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) but also in the peripheral nerves and skeletal muscles. <i>Methods:<\/i> A MEDLINE search with appropriate terms was carried out. Six articles, dealing with neuromuscular involvement in CADASIL, were selected and reviewed. <i>Results:<\/i> Several case studies presented CADASIL patients with clinical features of myopathy. Neurological diagnostic workup in these patients revealed weakness, wasting, reduced\/exaggerated tendon reflexes, abnormal nerve conduction and electromyography, muscle biopsy with ragged red muscle fibers, reduced COX staining, decreased complex I respiratory chain activity, abnormally structured mitochondria, or mitochondrial DNA (mtDNA) mutations, such as G5650A in the <i>tRNAAla<\/i> gene, or various other mtDNA substitutions. Additionally, fibroblasts in skin biopsy may show reduced complex V respiratory chain activity. <i>Conclusions:<\/i> These findings suggest <i>Notch3<\/i> mutations to be associated with mitochondrial disease, particularly affecting the skeletal muscle. Whether mtDNA mutations were induced by <i>Notch3<\/i> mutations, by oxidative stress due to chronic hypoxia, resulting from arteriopathy, or occurred spontaneously remains elusive. Patients carrying <i>Notch3<\/i> mutations should be systematically investigated for neuromuscular involvement, which may have therapeutic and prognostic implications for these patients.<\/jats:p>","DOI":"10.1159\/000108428","type":"journal-article","created":{"date-parts":[[2007,9,19]],"date-time":"2007-09-19T12:42:59Z","timestamp":1190205779000},"page":"401-404","source":"Crossref","is-referenced-by-count":11,"title":["Neuromuscular Implications in CADASIL"],"prefix":"10.1159","volume":"24","author":[{"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2007,9,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1161%2F01.STR.0000209242.68844.20"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10048-006-0049-x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1001%2Farchneur.61.6.942"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007%2Fs001090100268"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00401-005-1082-9"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00415-005-0837-5"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00401-006-0116-2"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2897%2908083-5"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jns.2004.09.008"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1080%2F10641960600549223"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00571504"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1067%2Fmjd.2000.110895"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002%2Fmds.20879"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ophtha.2006.03.030"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawh282"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawh223"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1161%2F01.STR.0000245091.28429.6a"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.mito.2006.11.004"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-4598%28199705%2920%3A5%3C625%3A%3AAID-MUS17%3E3.0.CO%3B2-V"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1159%2F000049148"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00109-001-0285-3"}],"container-title":["Cerebrovascular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/108428","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/108428","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:58:57Z","timestamp":1745463537000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000108428"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":21,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2007,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000108428","archive":["Portico"],"relation":{},"ISSN":["1015-9770","1421-9786"],"issn-type":[{"value":"1015-9770","type":"print"},{"value":"1421-9786","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007]]}}}