272
Views
8
CrossRef citations to date
0
Altmetric
Editorial

Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

&
Pages 1849-1856 | Published online: 04 Oct 2006

Bibliography

  • REID E: Many pathways lead to hereditary spastic paraplegia. Lancet Neurol. (2003) 2(4):210.
  • HARDING AE: Classification of the hereditary ataxias and paraplegias. Lancet (1983) 1(8334):1151-1155.
  • FINK JK: Advances in the hereditary spastic paraplegias. Exp. Neurol. (2003) Suppl. 1:S106-S10.
  • ZUCHNER S, WANG G, TRAN-VIET KN: Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia Type 31. Am. J. Hum. Genet. (2006) 79(2):365-369.
  • REID E, KLOOS M, ASHLEY-KOCH A: A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. (2002) 71(5):1189-1194.
  • HANSEN JJ, DURR A, COURNU-REBEIX I: Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am. J. Hum. Genet. (2002) 70(5):1328-1332.
  • SODERBLOM C, BLACKSTONE C: Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias. Pharmacol. Ther. (2006) 109(1-2):42-56.
  • HOLZBAUR EL: Motor neurons rely on motor proteins. Trends Cell Biol. (2004) 14(5):233-240.
  • CROSBY AH, PROUKAKIS C: Is the transportation highway the right road for hereditary spastic paraplegia? Am. J. Hum. Genet. (2002) 71(5):1009-1016.
  • REID E: Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J. Med. Genet. (2003) 40(2):81-86.
  • FINK JK: Hereditary spastic paraplegia: nine genes and counting. Arch. Neurol. (2003) 60:1045-1049.
  • EYMARD-PIERRE E, LESCA G, DOLLET S: Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am. J. Hum. Genet. (2002) 71(3):518-527.
  • GROS-LOUIS F, MEIJER IA, HAND CK: An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann. Neurol. (2003) 53(1):144-145.
  • LESCA G, EYMARD-PIERRE E, SANTORELLI FM: Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology (2003) 60(4):674-682.
  • MCDERMOTT CJ, GRIERSON AJ, WOOD JD: Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann. Neurol. (2003) 54(6):748-759.
  • ERRICO A, CLAUDIANI P, D’ADDIO M: Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon. Hum. Mol. Genet. (2004) 13(18):2121-2132.
  • FINK JK, RAINIER S: Hereditary spastic paraplegia: spastin phenotype and function. Arch. Neurol. (2004) 61(6):830-833.
  • TROTTA N, ORSO G, ROSSETTO MG: The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. Curr. Biol. (2004) 14(13):1135-1147.
  • PATEL H, CROSS H, PROUKAKIS C: SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat. Genet. (2002) 31(4):347-348.
  • CICCARELLI FD, PROUKAKIS C, PATEL H: The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics (2003) 81(4):437-441.
  • EVANS K, KELLER C, PAVUR K: Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Proc. Natl Acad. Sci. USA (2006) 103(28):10666-10671.
  • SIMPSON MA, CROSS H, PROUKAKIS C: Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am. J. Hum. Genet. (2003) 73(5):1147-1156.
  • JOUET M, ROSENTHAL A, ARMSTRONG G: X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat. Genet. (1994) 7(3):402-407.
  • KENWRICK S, WATKINS A, DE ANGELIS E: Neural cell recognition molecule L1: relating biological complexity to human disease mutations. Hum. Mol. Genet. (2000) 9(6):879-886.
  • CASARI G, RUGARLI E: Molecular basis of inherited spastic paraplegias. Curr. Opin. Genet. Dev. (2001) 11(3):336-342.
  • FRANSEN E, VAN CAMP G, VITS L: L1-associated diseases: clinical geneticists divide, molecular geneticists unite. Hum. Mol. Genet. (1997) 6(10):1625-1632.
  • DAHME M, BARTSCH U, MARTINI R: Disruption of the mouse L1 gene leads to malformations of the nervous system. Nat. Genet. (1997) 17(3):346-9
  • INOUE K, OSAKA H, KAWANISHI C: Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease. Neurology (1997) 48(1):283-285.
  • HUDSON LD, BERNDT JA, PUCKETT C: Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse. Proc. Natl Acad. Sci. USA (1987) 84(5):1454-1458.
  • CAMBI F, TANG XM, CORDRAY P: Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology (1996) 46(4):1112-1117.
  • EDGAR JM, MCLAUGHLIN M, YOOL D: Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia. J. Cell Biol. (2004) 166(1):121-131.
  • CASARI G, DE FUSCO M, CIARMATORI S: Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 93(6):973-983.
  • GUPTA S, KNOWLTON AA: Cytosolic heat shock protein 60, hypoxia, and apoptosis. Circulation (2002) 106(21):2727-2733.
  • MCDERMOTT C, WHITE K, BUSHBY K: Hereditary spastic paraparesis: a review of new developments. J. Neurol. Neurosurg. Psychiatry. (2000) 69(2):150-160.
  • SAITO H, KUBOTA M, ROBERTS RW: RTP family members induce functional expression of mammalian odorant receptors. Cell (2004) 119(5):679-691.
  • ORSO G, MARTINUZZI A, ROSSETTO MG: Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine. J. Clin. Invest. (2005) 115(11):3026-3034.
  • PIROZZI M, QUATTRINI A, ANDOLFI G: Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. J. Clin. Invest. (2006) 116(1):202-208.
  • ROSES AD: Pharmacogenetics and drug development: the path to safer and more effective drugs. Nat. Rev. Genet. (2004) 5(9):645-656.
  • JACOBSON LH, CRYAN JF: Differential sensitivity to the motor and hypothermic effects of the GABA B receptor agonist baclofen in various mouse strains. Psychopharmacology (2005) 179(3):688-699.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.