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 | HSAS, L1CAM, MASA, SPG1 |
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. | |
Fransen E, et al. | |
Am J Med Genet 64 : 73-77. 1996 | |
3 | ATL1, SPAST, SPG1, SPG2, SPG3A, SPG5A, SPG6 |
Molecular genetics of familial spastic paraplegia : a multitude of responsible genes. | |
Kobayashi H, et al. | |
J Neurol Sci 137 : 131-138. 1996 | |
4 | SPG1 |
Autosomal dominant, familial spastic paralegia, type I : clinical and genetic analysis of a large North American family. | |
Fink JK, et al. | |
Neurology 45 : 325-331. 1995 | |
5 | MASA, SPG1, HSAS, L1CAM |
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. | |
Ruiz JC, et al. | |
J Med Genet 32 : 549-552. 1995 | |
6 | L1CAM, SPG1, HSAS, MASA |
Mutations in the cell adhesion molecule L1 cause mental retardation. | |
Wong EV, et al. | |
Trends Neurosci 18 : 168-172. 1995 | |
7 | MASA, L1CAM, HSAS, SPG1 |
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. | |
Jouet M, et al. | |
Nat Genet 7 : 402-407. 1994 | |
8 | SPG1 |
Complicated hereditary spastic paraparesis with cerebral white matter lesions : lack of linkage to Xq28. | |
Gutmann DH, et al. | |
Am J Hum Genet 45 : A47. 1989 | |
9 | SPG1, SPG2 |
Etiological heterogeneity in X-linked spastic paraplegia. | |
Keppen LD, et al. | |
Am J Hum Genet 41 : 933-943. 1987 | |
10 | SPG1 |
Linkage studies of X-linked recessive spastic paraplegia using DNAprobes. | |
Kenwrick S, et al. | |
Hum Genet 73 : 264-266. 1986 | |