{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:36:18Z","timestamp":1726014978866},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,6,13]],"date-time":"2002-06-13T00:00:00Z","timestamp":1023926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked hereditary spastic paraplegias (HSPs) present with two distinct phenotypes: pure and complicated. The pure form is characterized by slowly progressive weakness and spasticity of the lower limbs, whereas the complicated forms have additional features (optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, epilepsy, ataxia, ichthyosis, mental retardation, and deafness). Three X\u2010linked loci have been identified for the complicated HSP, while mutations in the proteolipid gene (<jats:italic>PLP<\/jats:italic>) (locus SPG2) were implicated in both pure and complicated forms. The absence of identified mutations in the <jats:italic>PLP<\/jats:italic> gene in families with both complicated and pure HSP, linked to the SPG2 locus, suggests the existence of another gene in close proximity. We had previously reported a large pedigree with an X\u2010linked form of pure HSP affecting 24 males [Zatz et al., <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib27\">1976<\/jats:ext-link>: J Med Genet 13:217\u2013222]. Here, we present the results of linkage analysis in 19 members of this Brazilian family with markers in or near the PLP locus. Positive LOD scores were obtained with markers at the PLP locus (Zmax\u2009=\u20092.41 at Theta\u2009=\u20090); however, no mutation was found in the coding region of <jats:italic>PLP<\/jats:italic>, the intron\u2010exon boundaries, or part of the promoter region. The possibility of a duplication of the <jats:italic>PLP<\/jats:italic> gene was also excluded. These results suggest either that there is another X\u2010linked gene in close proximity to the <jats:italic>PLP<\/jats:italic> gene or that a novel mutation in the noncoding regions of the <jats:italic>PLP<\/jats:italic> gene may cause the disease in this family. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10551","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:56:23Z","timestamp":1033905383000},"page":"152-156","source":"Crossref","is-referenced-by-count":11,"title":["Further evidence for a fourth gene causing X\u2010linked pure spastic paraplegia"],"prefix":"10.1002","volume":"111","author":[{"given":"A.","family":"Starling","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Rocco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Cambi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.M.","family":"Hobson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.R.","family":"Passos 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