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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
Neurogenetics, Volume 7, No. 3, Year 2006
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Description
We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy. © Springer-Verlag 2006.
Authors & Co-Authors
Stévanin, Giovanni
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Montagna, Giorgia
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Azzedine, Hamid
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Valente, Enza Maria
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Dürr, Alexandra
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Scarano, Valentina
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Bouslam, Naïma
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Cassandrini, Denise
Italy, Genoa
Istituto Giannina Gaslini
Denora, Paola Silvia
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Criscuolo, Chiara
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Belarbi, Soraya
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Orlacchio, Antonio
Italy, Rome
Irccs Fondazione Santa Lucia
Italy, Rome
Università Degli Studi Di Roma Tor Vergata
Jonveaux, Philippe
France, Nancy
Chu de Nancy
Silvestri, Gabriella
Italy, Rome
Università Cattolica Del Sacro Cuore, Campus Di Roma
Hernandez, Anne Marie Ouvrad
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
De Michele, Giuseppe
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Mariotti, Caterina
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Brockmann, Knut
Germany, Gottingen
Georg-august-universität Göttingen
Malandrini, Alessandro
Italy, Siena
Università Degli Studi Di Siena
van der Knaap, Marjo S.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Neri, Marcella
Italy, Ferrara
University of Ferrara
Tonekaboni, Hassan
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Melone, Marina A.B.
Italy, Naples
Università Degli Studi Della Campania Luigi Vanvitelli
Tessa, Alessandra
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Dotti, Maria Teresa
Italy, Siena
Università Degli Studi Di Siena
Tosetti, Michela
Italy, San Miniato
Irccs Fondazione Stella Maris
Pauri, Flavia
Italy, Rome
Sapienza Università Di Roma
Federico, Antonio
Italy, Siena
Università Degli Studi Di Siena
Casali, Carlo
Italy, Rome
Sapienza Università Di Roma
Italy, Pavia
Irccs Fondazione Mondino
Tedim Cruz, Vítor Tedim
Portugal, Santa Maria da Feira
Hospital so Sebastio
Loureiro, José Leal
Portugal, Santa Maria da Feira
Hospital so Sebastio
Portugal, Porto
Instituto de Biologia Molecular e Celular
Zara, Federico
Italy, Genoa
Istituto Giannina Gaslini
Forlani, Sylvie
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Coutinho, Paula
Portugal, Santa Maria da Feira
Hospital so Sebastio
Portugal, Porto
Instituto de Biologia Molecular e Celular
Filla, Alessandro
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Brice, Alexis
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Santorelli, Filippo Maria
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Statistics
Citations: 40
Authors: 39
Affiliations: 22
Identifiers
Doi:
10.1007/s10048-006-0044-2
ISSN:
13646745
Research Areas
Genetics And Genomics