1 | FA2H, SPG35 |
A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review. | |
Cao L, Huang XJ, Chen CJ, Chen SD. | |
J Neurol Sci. 2013 | |
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 | FA2H, SPG35 |
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). | |
Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH. | |
Hum Mutat 31(4):E1251-60.PMID: 20104589 2010 | |
4 | DYNC1LI2, SPG35, VPS4A |
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. | |
Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH. | |
Neurology 71(4):248-52. Epub 2008 May 7. 2008 | |