{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T11:59:27Z","timestamp":1761393567546},"reference-count":37,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2007,5,14]],"date-time":"2007-05-14T00:00:00Z","timestamp":1179100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2007,10,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thirty\u2010three different loci for hereditary spastic paraplegias (HSP) have been mapped, and 15 responsible genes have been identified. Autosomal recessive spastic paraplegias (ARHSPs) usually have clinically complex phenotypes but the SPG5, SPG24, and SPG28 loci are considered to be associated with pure forms of the disease. We performed a genome\u2010wide scan in a large French family. Fine mapping of the refined SPG5 region on chromosome 8q12 was performed in another 17 ARHSP families with additional microsatellite markers. After exclusion of known ARHSP loci, the genome\u2010wide screen provided evidence of linkage with a maximal multipoint lod score of 2.6 in the <jats:italic>D8S1113\u2013D8S1699<\/jats:italic> interval. This interval partially overlapped <jats:italic>SPG5<\/jats:italic> and reduced it to a 5.9 megabase (Mb)\u2010region between <jats:italic>D8S1113<\/jats:italic> and <jats:italic>D8S544<\/jats:italic>. In a family of Algerian origin from a series of 17 other ARHSP kindreds, linkage to the SPG5 locus was supported by a multipoint lod score of 2.3. The direct sequencing of the coding exons of seven candidate genes did not detect mutations\/polymorphisms in the index cases of both linked families. The phenotype of the two <jats:italic>SPG5<\/jats:italic>\u2010linked families consisted of spastic paraparesis associated with deep sensory loss. In several patients with long disease durations, there were also mild cerebellar signs. The frequency of SPG5 was \u223c10% (2\/18) in our series of ARHSP families with pure or complex forms. We have refined the <jats:italic>SPG5<\/jats:italic> locus to a 3.8 cM interval and extended the phenotype of this form of ARHSP to include slight cerebellar signs. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30518","type":"journal-article","created":{"date-parts":[[2007,5,14]],"date-time":"2007-05-14T16:56:51Z","timestamp":1179161811000},"page":"854-861","source":"Crossref","is-referenced-by-count":15,"title":["Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical 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