Article
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 - 1 Jul 2006
Stevanin Giovanni, Montagna Giorgia, Azzedine Hamid, Valente Enza Maria, Durr Alexandra, Scarano Valentina, Bouslam Naima, Cassandrini Denise, Denora Paola S, Criscuolo Chiara, Belarbi Soraya, Orlacchio Antonio, Jonveaux Philippe, Silvestri Gabriella, Hernandez Anne Marie Ouvrad, De Michele Giuseppe, Tazir Meriem, Mariotti Caterina, Brockmann Knut, Malandrini Alessandro, van der Knapp Marjo S, Neri Marcella, Tonekaboni Hassan, Melone Mariarosa A B, Tessa Alessandra, Dotti M Teresa, Tosetti Michela, Pauri Flavia, Federico Antonio, Casali Carlo, Cruz Vitor T, Loureiro José L, Zara Federico, Forlani Sylvie, Bertini Enrico, Coutinho Paula, Filla Alessandro, Brice Alexis, Santorelli Filippo M
Abstract excerpt
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...
Topics
- Adolescent
- Child
- Child, Preschool
- Chromosomes, Human, Pair 15
- Consanguinity
- Corpus Callosum