| 1 | 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 | |
| 2 | SLC33A1, SPG42 |
| Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred. | |
| Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y. | |
| Prenat Diagn 30(5):485-6. No abstract available. 2010 | |
| 3 | SLC33A1, SPG42 |
| A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). | |
| Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y. | |
| Am J Hum Genet. Dec;83(6):752-9. 2008 | |