메뉴 건너뛰기




Volumn 7, Issue 14, 2006, Pages 1849-1856

Hereditary spastic paraplegia: Clinical genomics and pharmacogenetic perspectives

Author keywords

Axonal transport; Baclofen; Genetic heterogeneity; Hereditary spastic paraplegia; Linkage analysis; Pharmacogenetics; Vinca alkaloids

Indexed keywords

ANKYRIN; BACLOFEN; BENZODIAZEPINE DERIVATIVE; BOTULINUM TOXIN; CELL ADHESION MOLECULE; CHAPERONIN; CLONIDINE; DANTROLENE; DRUG METABOLIZING ENZYME; HEAT SHOCK PROTEIN 60; KINESIN; MICRORNA; MITOCHONDRIAL PROTEIN; NOCODAZOLE; OXYBUTYNIN; PARAPLEGIN; PROTEOLIPID PROTEIN; SPASTIN; TIZANIDINE; UNCLASSIFIED DRUG; VINBLASTINE; VINCA ALKALOID;

EID: 33749367927     PISSN: 14656566     EISSN: None     Source Type: Journal    
DOI: 10.1517/14656566.7.14.1849     Document Type: Editorial
Times cited : (7)

References (39)
  • 1
    • 0345283251 scopus 로고    scopus 로고
    • Many pathways lead to hereditary spastic paraplegia
    • REID E: Many pathways lead to hereditary spastic paraplegia. Lancet Neurol. (2003) 2(4):210.
    • (2003) Lancet Neurol. , vol.2 , Issue.4 , pp. 210
    • Reid, E.1
  • 2
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • HARDING AE: Classification of the hereditary ataxias and paraplegias. Lancet (1983) 1(8334):1151-1155.
    • (1983) Lancet , vol.1 , Issue.8334 , pp. 1151-1155
    • Harding, A.E.1
  • 3
    • 0242270591 scopus 로고    scopus 로고
    • Advances in the hereditary spastic paraplegias
    • FINK JK: Advances in the hereditary spastic paraplegias. Exp. Neurol. (2003) Suppl. 1:S106-S10.
    • (2003) Exp. Neurol. , Issue.SUPPL. 1
    • Fink, J.K.1
  • 4
    • 33746554263 scopus 로고    scopus 로고
    • Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia Type 31
    • 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.
    • (2006) Am. J. Hum. Genet. , vol.79 , Issue.2 , pp. 365-369
    • Zuchner, S.1    Wang, G.2    Tran-Viet, K.N.3
  • 5
    • 18644365196 scopus 로고    scopus 로고
    • A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
    • 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.
    • (2002) Am. J. Hum. Genet. , vol.71 , Issue.5 , pp. 1189-1194
    • Reid, E.1    Kloos, M.2    Ashley-Koch, A.3
  • 6
    • 0036241765 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
    • 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.
    • (2002) Am. J. Hum. Genet. , vol.70 , Issue.5 , pp. 1328-1332
    • Hansen, J.J.1    Durr, A.2    Cournu-Rebeix, I.3
  • 7
    • 28444437387 scopus 로고    scopus 로고
    • Traffic accidents: Molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias
    • 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.
    • (2006) Pharmacol. Ther. , vol.109 , Issue.1-2 , pp. 42-56
    • Soderblom, C.1    Blackstone, C.2
  • 8
    • 2342561865 scopus 로고    scopus 로고
    • Motor neurons rely on motor proteins
    • HOLZBAUR EL: Motor neurons rely on motor proteins. Trends Cell Biol (2004) 14(5):233-240.
    • (2004) Trends Cell Biol. , vol.14 , Issue.5 , pp. 233-240
    • Holzbaur, E.L.1
  • 9
    • 0036844683 scopus 로고    scopus 로고
    • Is the transportation highway the right road for hereditary spastic paraplegia?
    • CROSBY AH, PROUKAKIS C: Is the transportation highway the right road for hereditary spastic paraplegia? Am. J. Hum. Genet. (2002) 71(5):1009-1016.
    • (2002) Am. J. Hum. Genet. , vol.71 , Issue.5 , pp. 1009-1016
    • Crosby, A.H.1    Proukakis, C.2
  • 10
    • 0037328987 scopus 로고    scopus 로고
    • Science in motion: Common molecular pathological themes emerge in the hereditary spastic paraplegias
    • REID E: Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J. Med. Genet. (2003) 40(2):81-86.
    • (2003) J. Med. Genet. , vol.40 , Issue.2 , pp. 81-86
    • Reid, E.1
  • 11
    • 0041522770 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Nine genes and counting
    • FINK JK: Hereditary spastic paraplegia: nine genes and counting. Arch. Neurol. (2003) 60:1045-1049.
    • (2003) Arch. Neurol. , vol.60 , pp. 1045-1049
    • Fink, J.K.1
  • 12
    • 0036724052 scopus 로고    scopus 로고
    • Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
    • 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.
    • (2002) Am. J. Hum. Genet. , vol.71 , Issue.3 , pp. 518-527
    • Eymard-Pierre, E.1    Lesca, G.2    Dollet, S.3
  • 13
    • 0037234133 scopus 로고    scopus 로고
    • An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
    • 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.
    • (2003) Ann. Neurol. , vol.53 , Issue.1 , pp. 144-145
    • Gros-Louis, F.1    Meijer, I.A.2    Hand, C.K.3
  • 14
    • 0037465372 scopus 로고    scopus 로고
    • Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families
    • LESCA G, EYMARD-PIERRE E, SANTORELLI FM: Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology (2003) 60(4):674-682.
    • (2003) Neurology , vol.60 , Issue.4 , pp. 674-682
    • Lesca, G.1    Eymard-Pierre, E.2    Santorelli, F.M.3
  • 15
    • 0344664376 scopus 로고    scopus 로고
    • Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutation
    • MCDERMOTT CJ, GRIERSON AJ, WOOD JD: Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann. Neurol. (2003) 54(6):748-759.
    • (2003) Ann. Neurol. , vol.54 , Issue.6 , pp. 748-759
    • McDermott, C.J.1    Grierson, A.J.2    Wood, J.D.3
  • 16
    • 5744240094 scopus 로고    scopus 로고
    • Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon
    • 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.
    • (2004) Hum. Mol. Genet. , vol.13 , Issue.18 , pp. 2121-2132
    • Errico, A.1    Claudiani, P.2    D'Addio, M.3
  • 17
    • 2942531080 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Spastin phenotype and function
    • FINK JK, RAINIER S: Hereditary spastic paraplegia: spastin phenotype and function. Arch. Neurol. (2004) 61(6):830-833.
    • (2004) Arch. Neurol. , vol.61 , Issue.6 , pp. 830-833
    • Fink, J.K.1    Rainier, S.2
  • 18
    • 3142647116 scopus 로고    scopus 로고
    • The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function
    • 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.
    • (2004) Curr. Biol. , vol.14 , Issue.13 , pp. 1135-1147
    • Trotta, N.1    Orso, G.2    Rossetto, M.G.3
  • 19
    • 0036699065 scopus 로고    scopus 로고
    • SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
    • PATEL H, CROSS H, PROUKAKIS C: SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat. Genet. (2002) 31(4):347-348.
    • (2002) Nat. Genet. , vol.31 , Issue.4 , pp. 347-348
    • Patel, H.1    Cross, H.2    Proukakis, C.3
  • 20
    • 0037381932 scopus 로고    scopus 로고
    • The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
    • 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.
    • (2003) Genomics , vol.81 , Issue.4 , pp. 437-441
    • Ciccarelli, F.D.1    Proukakis, C.2    Patel, H.3
  • 21
    • 33746094658 scopus 로고    scopus 로고
    • Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
    • 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.
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , Issue.28 , pp. 10666-10671
    • Evans, K.1    Keller, C.2    Pavur, K.3
  • 22
    • 0242691095 scopus 로고    scopus 로고
    • Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
    • 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.
    • (2003) Am. J. Hum. Genet. , vol.73 , Issue.5 , pp. 1147-1156
    • Simpson, M.A.1    Cross, H.2    Proukakis, C.3
  • 23
    • 0028241952 scopus 로고
    • X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
    • 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.
    • (1994) Nat. Genet. , vol.7 , Issue.3 , pp. 402-407
    • Jouet, M.1    Rosenthal, A.2    Armstrong, G.3
  • 24
    • 0034639938 scopus 로고    scopus 로고
    • Neural cell recognition molecule L1: Relating biological complexity to human disease mutations
    • 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.
    • (2000) Hum. Mol. Genet. , vol.9 , Issue.6 , pp. 879-886
    • Kenwrick, S.1    Watkins, A.2    De Angelis, E.3
  • 25
    • 0035370669 scopus 로고    scopus 로고
    • Molecular basis of inherited spastic paraplegias
    • CASARI G, RUGARLI E: Molecular basis of inherited spastic paraplegias. Curr. Opin. Genet. Dev. (2001) 11(3):336-342.
    • (2001) Curr. Opin. Genet. Dev. , vol.11 , Issue.3 , pp. 336-342
    • Casari, G.1    Rugarli, E.2
  • 26
    • 0030760042 scopus 로고    scopus 로고
    • L1-associated diseases: Clinical geneticists divide, molecular geneticists unite
    • FRANSEN E, VAN CAMP G, VITS L: L1-associated diseases: clinical geneticists divide, molecular geneticists unite. Hum. Mol. Genet. (1997) 6(10):1625-1632.
    • (1997) Hum. Mol. Genet. , vol.6 , Issue.10 , pp. 1625-1632
    • Fransen, E.1    Van Camp, G.2    Vits, L.3
  • 27
    • 0030666794 scopus 로고    scopus 로고
    • Disruption of the mouse L1 gene leads to malformations of the nervous system
    • 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
    • (1997) Nat. Genet. , vol.17 , Issue.3 , pp. 346-349
    • Dahme, M.1    Bartsch, U.2    Martini, R.3
  • 28
    • 0031015929 scopus 로고    scopus 로고
    • Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease
    • 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.
    • (1997) Neurology , vol.48 , Issue.1 , pp. 283-285
    • Inoue, K.1    Osaka, H.2    Kawanishi, C.3
  • 29
    • 0013514355 scopus 로고
    • Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse
    • 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.
    • (1987) Proc. Natl Acad. Sci. USA , vol.84 , Issue.5 , pp. 1454-1458
    • Hudson, L.D.1    Berndt, J.A.2    Puckett, C.3
  • 30
    • 0029863607 scopus 로고    scopus 로고
    • Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia
    • 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.
    • (1996) Neurology , vol.46 , Issue.4 , pp. 1112-1117
    • Cambi, F.1    Tang, X.M.2    Cordray, P.3
  • 31
    • 3142674927 scopus 로고    scopus 로고
    • Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia
    • 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.
    • (2004) J. Cell Biol. , vol.166 , Issue.1 , pp. 121-131
    • Edgar, J.M.1    McLaughlin, M.2    Yool, D.3
  • 32
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • 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.
    • (1998) Cell , vol.93 , Issue.6 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3
  • 33
    • 0037137296 scopus 로고    scopus 로고
    • Cytosolic heat shock protein 60, hypoxia, and apoptosis
    • GUPTA S, KNOWLTON AA: Cytosolic heat shock protein 60, hypoxia, and apoptosis. Circulation (2002) 106(21):2727-2733.
    • (2002) Circulation , vol.106 , Issue.21 , pp. 2727-2733
    • Gupta, S.1    Knowlton, A.A.2
  • 34
    • 0033924732 scopus 로고    scopus 로고
    • Hereditary spastic paraparesis: A review of new developments
    • MCDERMOTT C, WHITE K, BUSHBY K: Hereditary spastic paraparesis: a review of new developments. J. Neurol. Neurosurg. Psychiatry. (2000) 69(2):150-160.
    • (2000) J. Neurol. Neurosurg. Psychiatry. , vol.69 , Issue.2 , pp. 150-160
    • McDermott, C.1    White, K.2    Bushby, K.3
  • 35
    • 8844270180 scopus 로고    scopus 로고
    • RTP family members induce functional expression of mammalian odorant receptors
    • SAITO H, KUBOTA M, ROBERTS RW: RTP family members induce functional expression of mammalian odorant receptors. Cell (2004) 119(5):679-691.
    • (2004) Cell , vol.119 , Issue.5 , pp. 679-691
    • Saito, H.1    Kubota, M.2    Roberts, R.W.3
  • 36
    • 27644498533 scopus 로고    scopus 로고
    • Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine
    • 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.
    • (2005) J. Clin. Invest. , vol.115 , Issue.11 , pp. 3026-3034
    • Orso, G.1    Martinuzzi, A.2    Rossetto, M.G.3
  • 37
    • 31044456528 scopus 로고    scopus 로고
    • Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia
    • 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.
    • (2006) J. Clin. Invest. , vol.116 , Issue.1 , pp. 202-208
    • Pirozzi, M.1    Quattrini, A.2    Andolfi, G.3
  • 38
    • 4344684441 scopus 로고    scopus 로고
    • Pharmacogenetics and drug development: The path to safer and more effective drugs
    • ROSES AD: Pharmacogenetics and drug development: the path to safer and more effective drugs. Nat. Rev. Genet. (2004) 5(9):645-656.
    • (2004) Nat. Rev. Genet. , vol.5 , Issue.9 , pp. 645-656
    • Roses, A.D.1
  • 39
    • 18744364177 scopus 로고    scopus 로고
    • Differential sensitivity to the motor and hypothermic effects of the GABA B receptor agonist baclofen in various mouse strains
    • 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.
    • (2005) Psychopharmacology , vol.179 , Issue.3 , pp. 688-699
    • Jacobson, L.H.1    Cryan, J.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.