| 1 | PLP1, SPG2
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| A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.
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| Noetzli L, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.
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| Gene 533(1):447-50. doi: 10.1016/j.gene.2013.09.076. Epub 2013 Oct 5.
2014
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| 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
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| Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
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| Fink JK.
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| Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013
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| 3 | PLP1, PMDX, SPG2
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| PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
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| Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.
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| Hum Mutat 29(8):1028-36.
2008
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| 4 | SPG2, PLP1
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| Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
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| Garbern JY.
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| Cell Mol Life Sci 64(1):50-65. Review. 2007
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| 5 | PLP1, SPG2
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| Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
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| Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K.
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| Ann Neurol 59(2):398-403. 2006
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| 6 | PLP1, SPG2
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| PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
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| Inoue K.
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| Neurogenetics 6(1):1-16. Epub 2004 Dec 31. Review. 2005
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| 7 | PLP1, SPG2, PMDX
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| Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
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| Hudson LD.
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| J Child Neurol 18(9):616-24. Review. 2003
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| 8 | PLP1, PLP2, PMDX, SPG2
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| Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
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| Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
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| Eur J Hum Genet 8(11):837-45. 2000
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| 9 | PLP1, PMDX, SPG2
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| 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).
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| Hodes ME, et al.
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| Am J Med Genet 82 : 132-139. 1999
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| 10 | PLP1, SPG2
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| Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
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| Sivakumar K, et al.
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| Ann Neurol 45(5):680-3. 1999
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| 11 | PLP1, SPG2
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| X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
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| Hodes ME, Hadjisavvas A, Butler IJ, Aydanian A, Dlouhy SR.
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| Am J Med Genet 75(5):516-7. 1998
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| 12 | SPG2
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| A new pure hereditary spastic paraplegia kindred maps to the proteolipid protein gene locus. (abstr)
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| Dube MP, et al.
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| Am J Hum Genet 61 : A169. 1997
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| 13 | ATL1, SPAST, SPG1, SPG2, SPG3A, SPG5A, SPG6
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| Molecular genetics of familial spastic paraplegia : a multitude of responsible genes.
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| Kobayashi H, et al.
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| J Neurol Sci 137 : 131-138. 1996
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| 14 | PLP1, SPG2
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| A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
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| Donnelly A, et al.
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| Hum Mutat 8 : 384-385. 1996
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| 15 | PLP1, SPG2
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| X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
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| Saugier-Veber P, et al.
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| Nat Genet 6 : 257-260. 1994
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| 16 | SPG2
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| X linked spastic paraplegia (SPG2) : clinical heterogeneity at a single gene locus.
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| Bonneau D, et al.
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| J Med Genet 30 : 381-384. 1993
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| 17 | SPG2
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| X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.
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| Goldblatt J, et al.
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| Clin Genet 35 : 116-120. 1989
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| 18 | SPG1, SPG2
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| Etiological heterogeneity in X-linked spastic paraplegia.
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| Keppen LD, et al.
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| Am J Hum Genet 41 : 933-943. 1987
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| 19 | SPG2
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| Linkage studies of X-linked spastic paraplegia.
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| Fischbeck KH, et al.
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| Am J Hum Genet 41 : A165. 1987
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