Extensive genetic heterogeneity in the ?pure? form of autosomal dominant familial spastic paraplegia (Str�mpell's disease)
1996; Wiley; Volume: 19; Issue: 11 Linguagem: Inglês
10.1002/(sici)1097-4598(199611)19
ISSN1097-4598
AutoresHisashi Kobayashi, Carlos García, Puei-Nam Tay, Eric P. Hoffman,
Tópico(s)Neurological diseases and metabolism
ResumoMuscle & NerveVolume 19, Issue 11 p. 1435-1438 Main Article Extensive genetic heterogeneity in the "pure" form of autosomal dominant familial spastic paraplegia (Strümpell's disease) Hisashi Kobayashi MD, PhD, Hisashi Kobayashi MD, PhD Department of Molecular Genetics and Biochemistry, Human Genetics and Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PennsylvaniaSearch for more papers by this authorCarlos A. Garcia MD, Carlos A. Garcia MD Department of Neurology and Pathology, School of Medicine in New Orleans, Louisiana State University, New Orleans, LouisianaSearch for more papers by this authorPuei-Nam Tay BS, Puei-Nam Tay BS Department of Molecular Genetics and Biochemistry, Human Genetics and Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PennsylvaniaSearch for more papers by this authorEric P. Hoffman PhD, Corresponding Author Eric P. Hoffman PhD Department of Molecular Genetics and Biochemistry, Human Genetics and Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PennsylvaniaDepartment of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, Biomedical Science Tower W1211, Pittsburgh, PA 15261Search for more papers by this author Hisashi Kobayashi MD, PhD, Hisashi Kobayashi MD, PhD Department of Molecular Genetics and Biochemistry, Human Genetics and Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PennsylvaniaSearch for more papers by this authorCarlos A. Garcia MD, Carlos A. Garcia MD Department of Neurology and Pathology, School of Medicine in New Orleans, Louisiana State University, New Orleans, LouisianaSearch for more papers by this authorPuei-Nam Tay BS, Puei-Nam Tay BS Department of Molecular Genetics and Biochemistry, Human Genetics and Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PennsylvaniaSearch for more papers by this authorEric P. Hoffman PhD, Corresponding Author Eric P. Hoffman PhD Department of Molecular Genetics and Biochemistry, Human Genetics and Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PennsylvaniaDepartment of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, Biomedical Science Tower W1211, Pittsburgh, PA 15261Search for more papers by this author First published: November 1996 https://doi.org/10.1002/(SICI)1097-4598(199611)19:11 3.0.CO;2-DCitations: 3AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Abstract Three dominantly inherited "pure" form familial spastic paraplegia (FSP) genes have been genetically mapped to regions of chromosomes, yet no specific genes or mutations have been identified (FSP1; chromosome 14q, FSP2; chromosome 2p and FSP3; chromosome 15q). We studied a "pure" form of autosomal dominant FSP family from North America of Italian descent for linkage to three dominant FSP loci. We excluded all three known loci with markers (D14S288, D14S269, D14S281, D2S352, D2S367, D15S210, D15S122, and D15S156) in our "pure" dominant FSP family. Our result suggests that dominant FSP is very genetically heterogeneous, and the existence of at least a fourth locus (FSP4) for the pure form of autosomal dominant FSP (Strümpell's disease). © 1996 John Wiley & Sons, Inc. 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