A recessive ataxia diagnosis algorithm for the next generation sequencing era - Renaud, M.; Tranchant, C.; Martin, J.V.T.; Mochel, F.; Synofzik, M.; van de Warrenburg, B.; Pandolfo, M.; Koenig, M.; Kolb, S.A.; Anheim, M.; Alonso, I.; Azzedine, H.; et al. (Annals of Neurology, 2017)

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum - Stevanin, G.; Santorelli, F.M.; Azzedine, H.; Coutinho, P.; Chomilier, J.; Denora, P.S.; Martin, E.; Ouvrard-Hernandez, A.-M.; Tessa, A.; Bouslam, N.; Lossos, A.; Charles, P.; et al. (Nature Genetics, 2007)