{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T23:17:00Z","timestamp":1768000620829,"version":"3.49.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,7,21]],"date-time":"2008-07-21T00:00:00Z","timestamp":1216598400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Mutations in the <jats:italic>SPG4<\/jats:italic> gene (spastin) and in the <jats:italic>SPG3A<\/jats:italic> gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). Recently, mutations in the <jats:italic>REEP1<\/jats:italic> gene were identified to cause autosomal dominant HSP type SPG31. The purpose of this study was to determine the prevalence of <jats:italic>REEP1<\/jats:italic> mutations in a cohort of 162 unrelated Caucasian index patients with 'pure' HSP and a positive family history (at least two persons per family presented symptoms).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>162 patients were screened for mutations by, both, DHPLC and direct sequencing.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Ten mutations were identified in the <jats:italic>REEP1<\/jats:italic> gene, these included eight novel mutations comprising small insertions\/deletions causing frame shifts and subsequently premature stop codons, one nonsense mutation and one splice site mutation as well as two missense mutations. Both missense mutations and the splice site mutation were not identified in 170 control subjects.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>In our HSP cohort we found pathogenic mutations in 4.3% of cases with autosomal dominant inheritance. Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of <jats:italic>REEP1<\/jats:italic> mutations.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-9-71","type":"journal-article","created":{"date-parts":[[2008,7,22]],"date-time":"2008-07-22T06:14:47Z","timestamp":1216707287000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)"],"prefix":"10.1186","volume":"9","author":[{"given":"Katharina J","family":"Schlang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larissa","family":"Arning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joerg T","family":"Epplen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Stemmler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,7,21]]},"reference":[{"issue":"6","key":"365_CR1","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1097\/WCO.0b013e3282f190ba","volume":"20","author":"C Depienne","year":"2007","unstructured":"Depienne C, Stevanin G, Brice A, Durr A: Hereditary spastic paraplegias: an update. Curr Opin Neurol. 2007, 20 (6): 674-680.","journal-title":"Curr Opin Neurol"},{"issue":"1","key":"365_CR2","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/humu.9205","volume":"23","author":"SM Sauter","year":"2004","unstructured":"Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J: Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. 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Neurology. 2006, 67 (11): 1926-1930. 10.1212\/01.wnl.0000244413.49258.f5.","journal-title":"Neurology"},{"issue":"4","key":"365_CR4","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1136\/jmg.2006.046425","volume":"44","author":"C Depienne","year":"2007","unstructured":"Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribai P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A: Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet. 2007, 44 (4): 281-284. 10.1136\/jmg.2006.046425.","journal-title":"J Med Genet"},{"key":"365_CR5","volume-title":"Brain","author":"C Beetz","year":"2008","unstructured":"Beetz C, Schule R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schols L, Jonghe PD, Zuchner S: REEP1 mutation spectrum and genotype\/phenotype correlation in hereditary spastic paraplegia type 31. 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