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Imagerie cérébrale équipe Durr

Basic and Translational Neurogenetics

Alexandra DURR
Alexandra DURR

Pr (PU-PH, MD, PhD), Team Leader, PI, Sorbonne Université, AP-HP

Giovanni STEVANIN
Giovanni STEVANIN

PhD, Team Leader, PI, Sorbonne Université, AP-HP

Team presentation

The team "Basic and Translational Neurogenetics" focuses on neurogenetic diseases, spinocerebral degeneration - DSC (spastic paraplegia and cerebellar ataxia), frontotemporal dementia (FTD) and Huntington’s disease.

Main publications

Main publications

  • Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin JF, Brice A, Tezenas du Montcel S, Durr A. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2022 doi.org/10.1016/S1474-4422(21)00457-9.
  • Kacher R, Lejeune FX, Noel S, Cazeneuve C, Brice A, Humbert S, Durr A. Propensity for somatic expansion increases over the course of life in Huntington disease. Elife 2021 doi.org/10.1016/S1474-4422(21)00457-9
  • Barnat M, Capizzi M, Aparicio E, Boluda S, Wennagel D, Kacher R, Kassem R, Lenoir S, Agasse F, Braz B, Liu P, Ighil J, Tessier, Zeitlin S, Duyckaerts C, Dommergues M, Durr A, Humbert S. Huntington disease alters human neurodevelopment. Science 2020 doi.org/10.1126/science.aax3338
  • 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. Inhibition of lysosome membrane recycling causes accumulation of gangliosides that contribute to neurodegeneration. Cell Rep 2018, 23:3813-3826.
  • Bertrand A, Wen J, Rinaldi D, Houot M, Sayah S, Camuzat A, Fournier C, Fontanella S, Routier A, Couratier P, Pasquier F, Habert MO, Hannequin D, Martinaud O, Caroppo P, Levy R, Dubois B, Brice A, Durrleman S, Colliot O, Le Ber I. Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis (PREV-DEMALS) Study Group. Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years. JAMA Neurol. 2018 Feb 1;75(2):236-245.
  • Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A; SPATAX network. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain. 2018 Dec 1;141(12):3331-3342.
  • 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. 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, Leber 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.

Team members

Alexandra DURR
Alexandra DURR

Pr (PU-PH, MD, PhD), Team Leader, PI, Sorbonne Université, AP-HP

Giovanni STEVANIN
Giovanni STEVANIN

PhD, Team Leader, PI, Sorbonne Université, AP-HP

Photo de Sandrine HUMBERT
Sandrine HUMBERT

Project Sponsor, PhD, DR1, PI, INSERM

Photo de Frederic DARIOS
Frederic DARIOS

Project Sponsor, PhD, CR1, PI, INSERM

Photo d'Alexis BRICE
Alexis BRICE

Project Sponsor, MD, PU-PH, PI, Sorbonne Université, AP-HP

Photo de Stéphanie BOREL
Stéphanie BOREL

Senior Lecturer, PI

Photo de Morwena LATOUCHE
Morwena LATOUCHE

Project Sponsor, PhD, MCU, PI, EPHE

Photo de Isabelle LE BER
Isabelle LE BER

Project Sponsor, MD, PhD, PH, PI, Sorbonne Université, AP-HP

Photo de Mathieu BARBIER
Mathieu BARBIER

Postdoctorant, PhD, PI

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News from the team

cervelet
Spinocerebellar ataxias: a widely underestimated diversity
Spinocerebellar ataxias are a very heterogeneous group of inherited diseases associated with degeneration of the cerebellum – a region at the back of the skull that plays an essential role in motor control. Patients have gait and balance disorders ...
06.21.2023 Research, science & health
Une poignée de main
Paris Brain Institute announces a new research collaboration with Pfizer Inc.
Paris Brain Institute announces a new research collaboration with Pfizer Inc. aimed at advancing the understanding of rare neurodegenerative diseases ...
05.16.2022 Institutional
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Huntington's disease: brain abnormalities detectable as early as the embryonic stage
Huntington's disease is a genetic neurological disorder that generally appears in adulthood. Teams of researchers and clinicians at the Grenoble Institute of Neuroscience (Inserm/Grenoble Alpes University) and the Brain Institute (Inserm/Sorbonne ...
07.17.2020 Research, science & health
huntington
A gene involved in Huntington’s disease progression
Huntington’s disease, which affects about 6 000 individuals in France, is characterized by the progressive outbreak of motor, behavioral and cognitive disorders. Researchers from Alexis Brice’s team have participated in a collaborative project aiming ...
12.19.2016 Research, science & health
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Hereditary spastic paraplegia and ALS: similarities in nervous system lesions
Hereditary spastic paraplegias are a heterogeneous group of pathologies and share clinical similarities with other neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). ...
04.01.2016 Research, science & health
pipettage
Discovery of a new gene involved in an early and very severe form of Parkinson's disease
Pr. Alexis Brice's team at the Brain and Spine Institute – Inserm / CNRS / UPMC, in collaboration with two international consortia has identified a new gene, VPS13C, involved in an early form of Parkinson's disease. Mutations in VPS13C lead to a loss ...
03.04.2016 Research, science & health