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1. Spastic paraplegia with thin corpus callosum: description of 20new families, refinement of the SPG11 locus, candidate geneanalysis and evidence of genetic heterogeneity

Author

Giovanni Stevanin, Giorgia Montagna, Hamid Azzedine, Enza Maria Valente, Alexandra Durr, Valentina Scarano, Naima Bouslam, Denise Cassandrini, Paola S. Denora, Chiara Criscuolo, Soraya Belarbi, Antonio Orlacchio, Philippe Jonveaux, Gabriella Silvestri, Anne Marie Ouvrad Hernandez, Meriem Tazir, Caterina Mariotti, Knut Brockmann, Alessandro Malandrini, Marjo S. van der Knapp, Marcella Neri, Hassan Tonekaboni, Mariarosa A. B. Melone, Alessandra Tessa, M. Teresa Dotti, Michela Tosetti, Flavia Pauri, Antonio Federico, Carlo Casali, Vitor T. Cruz, José L. Loureiro, Federico Zara, Sylvie Forlani, Enrico Bertini, Paula Coutinho, Alexis Brice, Filippo M. S.a.n.t.o.r.e.l.l.i., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria, Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Paola S., Denora, Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad, Hernandez, DE MICHELE, Giuseppe, Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Marjo S., van der Knapp, Marcella, Neri, Hassan, Tonekaboni, Mariarosa A. B., Melone, Alessandra, Tessa, M., Teresa Dotti, Michela, Tosetti, Flavia, Pauri, Antonio, Federico, Carlo, Casali, Vitor T., Cruz, José L., Loureiro, Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Filla, Alessandro, Alexis, Brice, and Filippo, M. S. a. n. t. o. r. e. l. l. i.

Published
2006

2. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

Author

Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Denora, Paola S., Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad Hernandez, De Michele, G., Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Van Der Knapp, M. S., Marcella, Neri, Hassan, Tonekaboni, Melone, Mariarosa A. B., Alessandra, Tessa, Teresa Dotti, M., Michela, Tosetti, Pauri, Flavia, Antonio, Federico, Casali, Carlo, Cruz, Vitor T., Loureiro, Jose L., Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Alessandro, Filla, Alexis, Brice, Santorelli, Filippo M., Casali, C., Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unit of Molecular Medicine, IRCCS, Mendel Institute, Department of Neurological Sciences, University of Naples Federico II = Università degli studi di Napoli Federico II, Pediatric Neurology and Neuromuscular Diseases Unit, Università degli studi di Genova = University of Genoa (UniGe), Service de Neurologie, Hopital Mustapha, Department of Neurosciences, Università degli Studi di Roma Tor Vergata [Roma], Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Department of Neuroscience, Catholic University, Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Besta Neurological Institute, Department of Pediatrics and Neuropediatrics, Georg-August-University = Georg-August-Universität Göttingen, Institute of Neurological Sciences, Department of Child Neurology, VU University Medical Center [Amsterdam], Medical Genetics, Università degli Studi di Ferrara = University of Ferrara (UniFE), Stella Maris, Department of Neurology and ORL, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Departamento de Neurologia, Hospital S. Sebastiao, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Stevanin, G, Montagna, G, Azzedine, H, Valente, Em, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, Am, DE MICHELE, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, VAN DER KNAPP, M, Neri, M, Tonekaboni, H, Melone, Mariarosa Anna Beatrice, Tessa, A, Dotti, Mt, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, Vt, Loureiro, Jl, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A, Santorelli, Fm, Pediatric surgery, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Napoli Federico II, Universita degli studi di Genova, Georg-August-University [Göttingen], Università degli Studi di Ferrara (UniFE), University of Naples Federico II, and Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]

Subjects
Male, Candidate gene, Genetic Linkage, Corpus Callosum, Consanguinity, Autosomal recessive hereditary spastic, Genetic heterogeneity, 0302 clinical medicine, MESH: Child, Spastic Paraplegia, Autosomal recessive hereditary spastic paraplegia, Linkage, SPG11, Thin corpus callosum, Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 15, Female, Humans, Infant, Lod Score, Pedigree, Phenotype, Spastic Paraplegia, Hereditary, Genes, Recessive, Genetic Heterogeneity, Genetics, Genetics (clinical), Cellular and Molecular Neuroscience, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, MESH: Genetic Heterogeneity, MESH: Infant, autosomal recessive hereditary spastic paraplegia, genetic heterogeneity, linkage, spg11, thin corpus callosum, Hereditary, Settore MED/26 - Neurologia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human, Hereditary spastic paraplegia, MESH: Pedigree, Locus (genetics), Biology, MESH: Phenotype, MESH: Corpus Callosum, Chromosomes, 03 medical and health sciences, Gene mapping, Genetic linkage, medicine, Recessive, Preschool, MESH: Genes, Recessive, 030304 developmental biology, MESH: Adolescent, MESH: Consanguinity, Autosome, MESH: Humans, Thin corpus callosum, SPG11, Linkage, Haplotype, MESH: Child, Preschool, Pair 15, medicine.disease, MESH: Male, Genes, MESH: Lod Score, MESH: Linkage (Genetics), MESH: Female, 030217 neurology & neurosurgery, MESH: Chromosomes, Human, Pair 15
Abstract

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.

Published
2006
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