References
- Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-372. https://doi.org/10.1038/ng1980
- Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008;131:772-784. https://doi.org/10.1093/brain/awm293
- Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegia with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 2012;318:1-18. https://doi.org/10.1016/j.jns.2012.03.025
- Salinas S, Proukakis C, Crosby A, Warner T. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008;7:1127-1138. https://doi.org/10.1016/S1474-4422(08)70258-8
- Shribman S, Reid E, Crosby AH, Houlden H, Warner TT. Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol 2019;18:1136-1146. https://doi.org/10.1016/S1474-4422(19)30235-2
- Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 2016;139(Pt 7):1904-1918. https://doi.org/10.1093/brain/aww111
- Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update. Curr Opin Neurol 2007;20:674-680. https://doi.org/10.1097/WCO.0b013e3282f190ba
- Hirst J, Borner GH, Edgar J, Hein MY, Mann M, Buchholz F, et al. Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15. Mol Biol Cell 2013;24:2558-2569. https://doi.org/10.1091/mbc.e13-03-0170
- Varga RE, Khundadze M, Damme M, Nietzsche S, Hoffmann B, Stauber T, et al. In vivo evidence for lysosome depletion and impaired autophagic clearance in hereditary spastic paraplegia type SPG11. PLoS Genet 2015;11:e1005454. https://doi.org/10.1371/journal.pgen.1005454
- Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, et al. Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol Dis 2017;102:21-37. https://doi.org/10.1016/j.nbd.2017.02.007