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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Nature Genetics, Volume 39, No. 3, Year 2007
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Description
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense or insertions and deletions leading to a frameshift, suggesting a loss-of-function mechanism. The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP. © 2007 Nature Publishing Group.
Authors & Co-Authors
Stévanin, Giovanni
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Santorelli, Filippo Maria
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Azzedine, Hamid
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Coutinho, Paula
Portugal, Porto
Universidade do Porto
Portugal, Santa Maria da Feira
Hospital so Sebastio
Chomilier, Jacques
France, Paris
Institut de Minéralogie, de Physique Des Matériaux et de Cosmochimie
Denora, Paola Silvia
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Martin, Elodie M.
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Ouvrard-Hernandez, Anne Marie
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Tessa, Alessandra
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Bouslam, Naïma
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Lossos, Alexander
Israel, Jerusalem
Hadassah University Medical Centre
Charles, Perrine
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Loureiro, José Leal
Portugal, Porto
Universidade do Porto
Portugal, Santa Maria da Feira
Hospital so Sebastio
Elleuch, Nizar
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Confavreux, Christian
France, Lyon
Hopital Neurologique et Neurochirurgical Pierre Wertheimer
Tedim Cruz, Vítor Tedim
Portugal, Santa Maria da Feira
Hospital so Sebastio
Ruberg, Merle
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
LeGuern, Éric
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Grid, Djamel
France, Evry
Généthon
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Fontaine, Bertrand
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Filla, Alessandro
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Dürr, Alexandra
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Brice, Alexis
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Statistics
Citations: 309
Authors: 25
Affiliations: 12
Identifiers
Doi:
10.1038/ng1980
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics