Mouraux, Charlotte ; Université de Liège - ULiège > GIGA ; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Méreaux, Jean-Loup; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Davoine, Claire-Sophie; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Guillot Noel, Léna; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Brice, Alexis; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Durr, Alexandra ; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Coarelli, Giulia; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Language :
English
Title :
Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia.
Hengel H, Hannan SB, Reich S, et al. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Brain. 2025;148:2812–2826.
Coarelli G, Coutelier M, Durr A. Autosomal dominant cerebellar ataxias: New genes and progress towards treatments. Lancet Neurol. 2023;22:735–749.
Chen S, Francioli LC, Goodrich JK, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2023;625:92–100.
Yang Y, Yang J, Liang Y, et al. Rab3A interacts with spastin to regulate neurite outgrowth in hippocampal neurons. Biochem Biophys Res Commun. 2023;643:77–87.
Mereaux JL, Banneau G, Papin M, et al. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Brain. 2022;145:1029–1037.
Le Ber I, Clot F, Vercueil L, et al. Predominant dystonia with marked cerebellar atrophy: A rare phenotype in familial dystonia. Neurology. 2006;67:1769–1773.
Thomsen M, Lange LM, Zech M, Lohmann K. Genetics and pathogenesis of dystonia. Annu Rev Pathol. 2024;19:99–131.
Lv G, Ko MS, Das T, Eliezer D. Molecular and functional interactions of alpha-synuclein with Rab3a. J Biol Chem. 2022;298:102239.
