Citations for
1AHDS, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG20, 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
2PLP1, PMDX, SPG2
PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.
Hum Mutat 29(8):1028-36. 2008
3 SPG2, PLP1
Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
Garbern JY.
Cell Mol Life Sci 64(1):50-65. Review. 2007
4PLP1, SPG2
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K.
Ann Neurol 59(2):398-403. 2006
5PLP1, SPG2
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
Inoue K.
Neurogenetics 6(1):1-16. Epub 2004 Dec 31. Review. 2005
6PLP1, SPG2, PMDX
Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
Hudson LD.
J Child Neurol 18(9):616-24. Review. 2003
7PLP1, PLP2, PMDX, SPG2
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
Eur J Hum Genet 8(11):837-45. 2000
8PLP1, PMDX, SPG2
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Hodes ME, et al.
Am J Med Genet 82 : 132-139. 1999
9PLP1, SPG2
Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
Sivakumar K, et al.
Ann Neurol 45(5):680-3. 1999
10PLP1, SPG2
X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
Hodes ME, Hadjisavvas A, Butler IJ, Aydanian A, Dlouhy SR.
Am J Med Genet 75(5):516-7. 1998
11SPG2
A new pure hereditary spastic paraplegia kindred maps to the proteolipid protein gene locus. (abstr)
Dube MP, et al.
Am J Hum Genet 61 : A169. 1997
12ATL1, 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
13PLP1, SPG2
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
Donnelly A, et al.
Hum Mutat 8 : 384-385. 1996
14PLP1, SPG2
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
Saugier-Veber P, et al.
Nat Genet 6 : 257-260. 1994
15SPG2
X linked spastic paraplegia (SPG2) : clinical heterogeneity at a single gene locus.
Bonneau D, et al.
J Med Genet 30 : 381-384. 1993
16SPG2
X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.
Goldblatt J, et al.
Clin Genet 35 : 116-120. 1989
17SPG1, SPG2
Etiological heterogeneity in X-linked spastic paraplegia.
Keppen LD, et al.
Am J Hum Genet 41 : 933-943. 1987
18SPG2
Linkage studies of X-linked spastic paraplegia.
Fischbeck KH, et al.
Am J Hum Genet 41 : A165. 1987