Basic and Translational Neurogenetics

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

PhD, DR1, Team Leader, PI, INSERM

Team presentation

Clinical & translational neurosciences Alexandra DURR’s team focus on neurogenetic diseases, spinocerebellar degenerations – SCD (spastic paraplegias and cerebellar ataxias), frontotemporal lobar degenerations – FTLD and Huntington disease. These rare conditions share clinical, genetic and functional characteristics but are extremely heterogeneous both in molecular and clinical aspects.

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.