Jean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, Cecilia Marelli, Fabienne Ory-Magne, Claire Ewenczyk, Yosra Halleb, François Tison, Claire Lecocq, Guillaume Pische, Philippe Casenave, Annabelle Chaussenot, Solène Frismand, Louise Tyvaert, Lise Larrieu, Morgane Pointaux, Nathalie Drouot, Carine Bossenmeyer-Pourié, Abderrahim Oussalah, Jean-Louis Guéant, Bruno Leheup, Céline Bonnet, Mathieu Anheim, Christine Tranchant, Laëtitia Lambert, Jamel Chelly, Michel Koenig, Mathilde Renaud
BACKGROUND: STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1 are now considered a frequent cause of cerebellar ataxia. OBJECTIVE: We aimed to improve the clinical, radiological, and molecular delineation of SCAR16 and SCA48. METHODS: Retrospective collection of patients with SCAR16 or SCA48 diagnosed in three French genetic centers (Montpellier, Strasbourg and Nancy)...
January 8, 2021: Journal of Neurology