Institut de Neurosciences Cognitives et Intégratives d'Aquitaine (UMR5287)

Aquitaine Institute for Cognitive and Integrative Neuroscience



INCIA - UMR 5287- CNRS
Université de Bordeaux

Zone nord Bat 2 2ème étage
146, rue Léo Saignat
33076 Bordeaux cedex
France

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Télécopie 05.56.90.14.21

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CNRS Ecole Pratique des Hautes Etudes Université de Bordeaux

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Stevanin Giovanni

by NRGEN - published on , updated on

DR2 INSERM, DECU EPHE/PSL univ, HDR, Team Co-leader

Contact:
giovanni-battista.stevanin@u-bordeaux.fr

Team:
Translational Research in Neurogenetic Diseases

Social:
Loop / CVAviesan

ORCID: 0000-0001-9368-8657 / Wordpress

Domain:
Neurological diseases / Human genetics

Scientific expertise:

  • Next generation sequencing
  • Neurogenetics
  • Cellular and animal models

Selected publications:

  • Méreaux JL, Banneau G, Papin M, Coareli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait-Said S, Gautier C, Guillaud-Bataille M, the French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. BRAIN 2022 (online January 4).
  • Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Numann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. BRAIN 2022 (on line Nov 11).
  • Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Aradjanski M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi A, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki M, Picaud S, Mourier A, Steculorum S, Mignot C, Durr A, Trifunovic A, and Stevanin G. Implication of Folate Deficiency in CYP2U1 loss of function. J Exp Med 2021, 218(11):e20210846.
  • Breza M, Hirst J, Chelban V, Banneau G, Tissier L, Kol B, Bourinaris T, Ait-Said S, Péréon Y, Heinzmann A, Debs R, Juntas-Morales R, Gonzales Martinez V, Camdessanche JP, Scherer-Gagou C, Zola JM, Athanasiou-Fragkouli A, Efthymiou S, Vavougios G, Velonakis G, Stamelou M, Tzartos J, Potagas C, Zambelis T, Mariotti C, Blackstone C, Vandrovcova J, Mavridis T, Kartanou C, Stefanis L, Wood N, Karadima G, Leguern E, Koutsis G, Houlden H, Stevanin G. Expanding the spectrum of AP5Z1 – related Hereditary Spastic Paraplegia (HSP-SPG48): a multi-center study on a rare disease. Mov Dis 2021, 36:1034-1038.
  • Boutry M, Branchu J, Lustrement C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puche JP Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El-Hachimi KH, Stevanin G*, Darios F* (*co-last authors). Inhibition of lysosome membrane recycling causes accumulation of gangliosides that contribute to neurodegeneration. Cell Rep 2018, 23:3813-3826.
  • Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacquere S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G*, Goizet C* (* equal contribution). CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Hum Mut 2018, 39:140-151.
  • Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, Hachimi KH, Stevanin G*, Darios F* (*colast authors). Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol dis 2017, 102:21-37.
  • Morais S, Raymond L, Mairey M, Coutinho P, Brandao E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G. Massive Sequencing of 70 Genes Reveals a Myriad of Missing Genes or Mechanisms to be Uncovered in Hereditary Spastic Paraplegias. Eur J Hum Genet 2017, 25:1217-1228.
  • Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G*, Martin JJ, El-Hachimi K (*corresponding author). Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain 2016, 139:1723-1734.
  • Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Lber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G. A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium channel conduction and causes autosomal dominant cerebellar ataxia. Am J Hum Genet 2015, 97:726-737.
  • Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 2015, 138: 2191-2205.
  • Hopfner F*, Stevanin G*, Muller SH, Mundwiller E, Bungeroth M, Durr A, Pendziwiat M, Anheim M, Schneider SA, Tittmann L, Klebe S, Lorenz D, Deuschl G, Brice A, Kuhlenbaumer G (*co-first authors). The impact of rare variants in FUS in essential tremor. Mov Disord 2015; 30(5):721-724.
  • Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BPC, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, the Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA), the EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain 2014, 137: 2444-2455.
  • Boukhris A, Schule R, Loureiro JL, Marques Lourenço C, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques Jr W, Brice A, Durr A, Zuchner S, Stevanin G. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet 2013, 93: 118-123.
  • Martin E, Schule R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Marc Wessner M, Jornea L, Caballero Oteyza A, Durr A, Martin JJ, Schols L, Mhiri C, Lamari F, Züchner S, De Jonghe P, Kabashi E, Brice A, and Stevanin G. Loss of Function of Glucocerebrosidase GBA2 is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia. Am J Hum Genet 2013, 92: 238-244.
  • Tesson C, Nawara M, Salih MAM, Rossignol R, Zaki M, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Caballero-Oteyza A, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, El Malik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. Alteration of fatty acid-metabolizing enzymes affects mitochondrial functions in hereditary spastic paraplegia. Am J Hum Genet 2012, 91: 1051-1064.
  • Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrad-Hernandez AN, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. REEP1 Mutations in SPG31: Frequency, Mutational Spectrum and Potential Association with Mitochondrial Morpho-functional Dysfunction. Hum Mut 2011, 32:1118-1127.
  • Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JF, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain 2009, 132:1789-1600.
  • Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology 2009, 73:1111-1119.
  • Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Huntchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal recessive spastic paraplegia including Kjellin syndrome. Am J Hum Genet 2008, 82:992-1002.
  • Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, PM Serrano Allegria, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzales V, Kjersti Erichsen A, Leber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale dos Santos J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A, on behalf of the SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008, 131:772-784.
  • Latouche M, Lasbleiz C, Martin E, Monnier V, Debeir T, Prigent A, Muriel MP, Morel L, Ruberg M, Brice A, Stevanin G*, Tricoire H (*corresponding author). A conditional pan-neuronal Drosophila model of SCA7 with a reversible adult phenotype suitable for identifying modifier genes. J Neurosci 2007, 27 (10): 2483–2492.
  • Stevanin G, Santorelli F, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A (*co-first authors). Mutations in the SPG11 gene, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nature Genet 2007, 39 (3): 366-372.
  • Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. New mutations of Protein Kinase Cγ associated with Spinocerebellar Ataxia Type 14 (SCA14). Ann Neurol 2005; 58:720-729.
  • Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dodé C, Takahashi J, San C, Bellance R, Brice A, Durr A. Huntington’s disease like phenotype due to trunucleotide repeat expansions in the TBP and JPH3 genes. Brain 2003 ; 126:1599-1603.
  • Stevanin G, Herman H, Dürr A, Jodice C, Frontali M, Agid Y, Brice A. Are expansions at the SCA8 locus rare polymorphisms? Nature Genet 2000; 24:213.
  • Stevanin G, Giunti P, David G, Belal S, Dürr A, Wood N, Brice A. De novo expansion on intermediate alleles in spinocerebellar ataxia 7. Hum Mol Genet 1998;7:1809-1813.
  • Stevanin G, Trottier Y, Cancel G, Dürr A, David G, Didierjean O, Bürk K, Imbert G, Saudou F, Abada M, An I, Benomar A, Abbas N, Klockgether T, Grid D, Agid Y, Mandel J-L, Brice A. Sceening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum Mol Genet 1996;5:1887-1892.
  • Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, Agid Y, Brice A, Mandel J-L. Polyglutamine expansion as a pathological epitope detected in Huntington’s disease, in spinocerebellar ataxia 1 and 3 and two additional cerebellar ataxias. Nature 1995; 378:403-405.
  • Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, Pothin Y, Lagroua I, Haguenau M, Rancurel G, Weissenbach J, Agid Y and Brice A. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter; evidence for the existence of a fourth locus. Am J Hum Genet 1994; 54:11-20