{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:29:54Z","timestamp":1791350994189,"version":"4.3.1"},"reference-count":13,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Point mutations in <jats:italic>SPG4<\/jats:italic>, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). However, standard methods for genetic analyses fail to detect exonic microdeletions.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> 121 mutation-negative probands were screened for rearrangements in <jats:italic>SPG4<\/jats:italic> by multiplex ligation-dependent probe amplification.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> 24 patients with 16 different heterozygotic exon deletions in <jats:italic>SPG4<\/jats:italic> (20%) were identified, ranging from one exon to the whole coding sequence. Comparison with 78 patients with point mutations showed a similar clinical picture but an earlier age at onset.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> Exon deletions in <jats:italic>SPG4<\/jats:italic> are as frequent as point mutations, and <jats:italic>SPG4<\/jats:italic> is responsible for 40% of AD-HSP.<\/jats:p>","DOI":"10.1136\/jmg.2006.046425","type":"journal-article","created":{"date-parts":[[2006,11,13]],"date-time":"2006-11-13T20:38:56Z","timestamp":1163450336000},"page":"281-284","source":"Crossref","is-referenced-by-count":108,"title":["Exon deletions of <i>SPG4<\/i> are a frequent cause of hereditary spastic paraplegia"],"prefix":"10.1136","volume":"44","author":[{"given":"Christel","family":"Depienne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Fedirko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Forlani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Cazeneuve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Riba\u00ef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imed","family":"Feki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Tallaksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Stankoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merle","family":"Ruberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2006,11,10]]},"reference":[{"key":"2025100521461230000_44.4.281.1","doi-asserted-by":"publisher","DOI":"10.1038\/15472"},{"key":"2025100521461230000_44.4.281.2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000223315.62404.00"},{"key":"2025100521461230000_44.4.281.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.637"},{"key":"2025100521461230000_44.4.281.4","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.2.281"},{"key":"2025100521461230000_44.4.281.5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10105"},{"key":"2025100521461230000_44.4.281.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2004.00888.x"},{"key":"2025100521461230000_44.4.281.7","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.1.49"},{"key":"2025100521461230000_44.4.281.8","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.71.6.788"},{"key":"2025100521461230000_44.4.281.9","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000223315.62404.00"},{"key":"2025100521461230000_44.4.281.10","doi-asserted-by":"publisher","DOI":"10.1007\/PL00007865"},{"key":"2025100521461230000_44.4.281.11","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200528"},{"key":"2025100521461230000_44.4.281.12","first-page":"13","volume":"133","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025100521461230000_44.4.281.13","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000223315.62404.00"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2006.046425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:46:17Z","timestamp":1759725977000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2006.046425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,10]]},"references-count":13,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2007,3,30]]},"published-print":{"date-parts":[[2007,4]]}},"alternative-id":["10.1136\/jmg.2006.046425"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2006.046425","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,10]]}}}