TY - JOUR
T1 - Spastic paraplegia with thin corpus callosum
T2 - Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
AU - Stevanin, Giovanni
AU - Montagna, Giorgia
AU - Azzedine, Hamid
AU - Valente, Enza Maria
AU - Durr, Alexandra
AU - Scarano, Valentina
AU - Bouslam, Naima
AU - Cassandrini, Denise
AU - Denora, Paola S.
AU - Criscuolo, Chiara
AU - Belarbi, Soraya
AU - Orlacchio, Antonio
AU - Jonveaux, Philippe
AU - Silvestri, Gabriella
AU - Hernandez, Anne Marie Ouvrad
AU - De Michele, Giuseppe
AU - Tazir, Meriem
AU - Mariotti, Caterina
AU - Brockmann, Knut
AU - Malandrini, Alessandro
AU - Van Der Knapp, Marjo S.
AU - Neri, Marcella
AU - Tonekaboni, Hassan
AU - Melone, Mariarosa A.B.
AU - Tessa, Alessandra
AU - Dotti, M. Teresa
AU - Tosetti, Michela
AU - Pauri, Flavia
AU - Federico, Antonio
AU - Casali, Carlo
AU - Cruz, Vitor T.
AU - Loureiro, José L.
AU - Zara, Federico
AU - Forlani, Sylvie
AU - Bertini, Enrico
AU - Coutinho, Paula
AU - Filla, Alessandro
AU - Brice, Alexis
AU - Santorelli, Filippo M.
PY - 2006/7
Y1 - 2006/7
N2 - 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.
AB - 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.
KW - Autosomal recessive hereditary spastic paraplegia
KW - Genetic heterogeneity
KW - Linkage
KW - SPG11
KW - Thin corpus callosum
UR - http://www.scopus.com/inward/record.url?scp=33746054137&partnerID=8YFLogxK
U2 - 10.1007/s10048-006-0044-2
DO - 10.1007/s10048-006-0044-2
M3 - Article
C2 - 16699786
AN - SCOPUS:33746054137
SN - 1364-6745
VL - 7
SP - 149
EP - 156
JO - Neurogenetics
JF - Neurogenetics
IS - 3
ER -