Basic and Translational Neurogenetics

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

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

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.