| 1 | SCA5, SCAR14, SPTBN2 |
| Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. | |
| Nicita F, Nardella M, Bellacchio E, Alfieri P, Terrone G, Piccini G, Graziola F, Pignata C, Capuano A, Bertini E, Zanni G. | |
| Clin Genet lin Genet. 2019 May 8. doi: 10.1111/cge.13562. [Epub ahead of print] 2019 | |
| 2 | SCA5, SCAR14 |
| Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype. | |
| Nuovo S, Micalizzi A, D'Arrigo S, Ginevrino M, Biagini T, Mazza T, Valente EM. | |
| Eur J Hum Genet 26(7):928-929. doi: 10.1038/s41431-018-0158-7. Epub 2018 May 25. No abstract available. 2018 | |
| 3 | SCAR14, SPTBN2 |
| Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. | |
| Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ. | |
| Eur J Hum Genet 22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10. 2014 | |
| 4 | SCAR14, SPTBN2 |
| Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. | |
| Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Németh AH. | |
| PLoS Genet 8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6. 2012 | |