{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:57:41Z","timestamp":1791302261947,"version":"4.1.0"},"reference-count":38,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,2]]},"abstract":"<jats:p>Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347.<\/jats:p>","DOI":"10.1136\/jmg.35.2.89","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"89-93","source":"Crossref","is-referenced-by-count":52,"title":["Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p."],"prefix":"10.1136","volume":"35","author":[{"given":"O","family":"Heinzlef","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Paternotte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Mahieux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J F","family":"Prud'homme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Dien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Madigand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Pouget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Weissenbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Roullet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Hazan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1136\/jmg.34.6.499","article-title":"Pure hereditary spastic paraplegia","volume":"34","author":"Reid, E.","year":"1997","unstructured":"Reid E. Pure hereditary spastic paraplegia. J Med Genet 1997;34:499-503.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"421","article-title":"Familial spastic paraplegia","volume-title":"Handbook of clinical neurology. Vol 22","author":"Sutherland, J.M.","year":"1975","unstructured":"Sutherland JM. Familial spastic paraplegia. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Vol 22. Amsterdam: North Holland Publishing Company, 1975: 421-31."},{"key":"ref_3","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1992","unstructured":"McKusick VA. Mendelian inheritance in man. 10th ed. 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J Neurol Sci 1995;131:35-42.","journal-title":"J Neurol Sci"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1136\/jmg.30.5.381","article-title":"X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus","volume":"30","author":"Bonneau, D.; Rozet, J.M.; Bulteau, C.","year":"1993","unstructured":"Bonneau D, Rozet JM, Bulteau C, et al. X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. YMed Genet 1993;30:381-4.","journal-title":"YMed Genet"},{"key":"ref_32","first-page":"260","article-title":"Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees","volume":"4","author":"P, De Jonghe; L, Krols; A, Michalik","year":"1996","unstructured":"De Jonghe P, Krols L, Michalik A, et al. Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees. 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Neurology 1996;46:1507-14.","journal-title":"Neurology"},{"key":"ref_37","first-page":"225","article-title":"Genetic studies in familial spastic paraparesis: heterogeneity results and evidence for anticipation in chromosome 2 SPG","volume":"59","author":"Lennon, F.; Gaskell, P.C.; Scott, W.K.","year":"1996","unstructured":"Lennon F, Gaskell PC, Scott WK, et al. Genetic studies in familial spastic paraparesis: heterogeneity results and evidence for anticipation in chromosome 2 SPG. Am J Hum Genet 1996;59:A225.","journal-title":"Am J Hum Genet"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1007\/s004390050223","article-title":"Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family","volume":"98","author":"Burger, J.; Metzke, H.; Paternotte, C.; Schilling, F.; Hazan, J.; Reis, A.","year":"1996","unstructured":"Burger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A. Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family. Hum Genet 1996;98:371-5.","journal-title":"Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.2.89","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:59:31Z","timestamp":1760727571000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.2.89"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,2]]},"references-count":38,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1998,2,1]]},"published-print":{"date-parts":[[1998,2]]}},"alternative-id":["10.1136\/jmg.35.2.89"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.2.89","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,2]]}}}