Presentation
Specific aims are :
- To identify novel causative genes/molecular dysfunction and modifying factors in improving the genomic analysis of familial forms
- To investigate common pathological mechanisms such as dysfunction of lysosomes and autophagy
- To uncover new pathological pathways using unbiased methods (RNASeq, lipidomics, metabolomics…)
- To implement therapeutic strategies, including gene therapy, using biomarkers identified in longitudinal studies of patients and presymptomatic carriers.
Major publications
- 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. (IF 8.3)
- 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. (IF=10.8) - 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. (IF=10.1) - 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. (IF=10.1)
- 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. (IF= 11.5)