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

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, Giuseppe De Michele, Meriem Tazir, Caterina Mariotti, Knut Brockmann, Alessandro MalandriniMarjo 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, Alessandro Filla, Alexis Brice, Filippo M. Santorelli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)149-156
Number of pages8
JournalNeurogenetics
Volume7
Issue number3
DOIs
Publication statusPublished - Jul 2006

Fingerprint

Genetic Heterogeneity
Corpus Callosum
Paraplegia
Genetic Association Studies
Hereditary Spastic Paraplegia
Chromosomes, Human, Pair 15
Haplotypes
Italy
Mutation
Genes

Keywords

  • Autosomal recessive hereditary spastic paraplegia
  • Genetic heterogeneity
  • Linkage
  • SPG11
  • Thin corpus callosum

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

Cite this

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

In: Neurogenetics, Vol. 7, No. 3, 07.2006, p. 149-156.

Research output: Contribution to journalArticle

Stevanin, G, Montagna, G, Azzedine, H, Valente, EM, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, PS, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, AMO, De Michele, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, Van Der Knapp, MS, Neri, M, Tonekaboni, H, Melone, MAB, 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 2006, '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, vol. 7, no. 3, pp. 149-156. https://doi.org/10.1007/s10048-006-0044-2
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. / Spastic paraplegia with thin corpus callosum : Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. In: Neurogenetics. 2006 ; Vol. 7, No. 3. pp. 149-156.
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AU - Azzedine, Hamid

AU - Valente, Enza Maria

AU - Durr, Alexandra

AU - Scarano, Valentina

AU - Bouslam, Naima

AU - Cassandrini, Denise

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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

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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

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AU - Brice, Alexis

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