| 1 | KIF1A, SPG30 |
| Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. | |
| Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, Lönnqvist T, Tyynismaa H. | |
| Eur J Hum Genet 23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14. 2015 | |
| 2 | AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56 |
| Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. | |
| Fink JK. | |
| Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013 | |
| 3 | KIF1A, SPG30 |
| KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. | |
| Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G. | |
| Eur J Hum Genet 20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18. 2012 | |
| 4 | SPG30 |
| Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. | |
| Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G. | |
| Brain 129(Pt 6):1456-62. Epub 2006 Jan 24. 2006 | |