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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia
American Journal of Human Genetics, Volume 93, No. 1, Year 2013
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Description
Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origins. Five homozygous truncating (n = 3) and missense (n = 2) mutations were identified in B4GALNT1. After this finding, we analyzed the entire coding region of this gene in 65 additional cases, and three mutations were identified in two subjects. All mutated cases presented an early-onset spastic paraplegia, with frequent intellectual disability, cerebellar ataxia, and peripheral neuropathy as well as cortical atrophy and white matter hyperintensities on brain imaging. B4GALNT1 encodes β-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), involved in ganglioside biosynthesis. These findings confirm the increasing interest of lipid metabolism in HSPs. Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3710753/bin/mmc1.pdf
Authors & Co-Authors
Boukhris, Amir
Tunisia, Sfax
Chu Habib Bourguiba
Tunisia, Sfax
Faculty of Medicine of Sfax
France, Paris
Inserm
Schüle, Rebecca
Germany, Tubingen
Hertie-institut Für Klinische Hirnforschung
Loureiro, José Leal
Portugal, Porto
Instituto de Biologia Molecular e Celular
Lourenc¸o, Charles Marques
Brazil, Sao Paulo
Universidade de São Paulo
Mundwiller, Emeline
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
González, Michael Anthony
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Charles, Perrine
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Gauthier, Julie M.
Canada, Montreal
Institut-hôpital Neurologique de Montréal
Rekik, Imen
Tunisia, Sfax
Chu Habib Bourguiba
France, Paris
Inserm
Acosta Lebrigio, Rafael F.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Gaussen, Marion
France, Paris
Inserm
France, Paris
Institut du Cerveau et de la Moelle Épinière
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Speziani, Fiorella
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Ferbert, Andreas
Germany, Kassel
Klinikum Kassel Gmbh
Feki, Imed
Tunisia, Sfax
Chu Habib Bourguiba
Tunisia, Sfax
Faculty of Medicine of Sfax
Caballero-Oteyza, Andrés
Germany, Tubingen
Hertie-institut Für Klinische Hirnforschung
DIonne-Laporte, Alexandre
Canada, Montreal
Institut-hôpital Neurologique de Montréal
Amri, Mohamed
Tunisia, Sfax
Chu Habib Bourguiba
Tunisia, Sfax
Faculty of Medicine of Sfax
Noreau, Anne
Canada, Montreal
Institut-hôpital Neurologique de Montréal
Forlani, Sylvie
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Institut du Cerveau et de la Moelle Épinière
France, Paris
Cnrs Centre National de la Recherche Scientifique
Tedim Cruz, Vítor Tedim
Portugal, Porto
Instituto de Biologia Molecular e Celular
Mochel, Fanny
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Institut du Cerveau et de la Moelle Épinière
France, Paris
Cnrs Centre National de la Recherche Scientifique
Coutinho, Paula
Portugal, Porto
Instituto de Biologia Molecular e Celular
Dion, Patrick A.
Canada, Montreal
Institut-hôpital Neurologique de Montréal
Canada, Montreal
University of Montreal
Mhiri, Chokri
Portugal, Porto
Instituto de Biologia Molecular e Celular
Schöls, Ludger
Tunisia, Sfax
Chu Habib Bourguiba
Tunisia, Sfax
Faculty of Medicine of Sfax
Pouget, Jean Yves
Germany, Tubingen
Hertie-institut Für Klinische Hirnforschung
Germany, Bonn
Deutsches Zentrum Für Neurodegenerative Erkrankungen
Darios, Frédéric D.
France, Marseille
Hopital la Timone
Rouleau, Guy Armand
France, Paris
Inserm
France, Paris
Institut du Cerveau et de la Moelle Épinière
France, Paris
Cnrs Centre National de la Recherche Scientifique
Marques, Wilson J.
Canada, Montreal
Institut-hôpital Neurologique de Montréal
Brice, Alexis
Brazil, Sao Paulo
Universidade de São Paulo
Dürr, Alexandra
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Institut du Cerveau et de la Moelle Épinière
France, Paris
Cnrs Centre National de la Recherche Scientifique
Züchner, Stephan L.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Stévanin, Giovanni
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Institut du Cerveau et de la Moelle Épinière
France, Paris
Cnrs Centre National de la Recherche Scientifique
Statistics
Citations: 144
Authors: 33
Affiliations: 15
Identifiers
Doi:
10.1016/j.ajhg.2013.05.006
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Disability
Genetics And Genomics
Study Locations
Tunisia