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Volumn 14, Issue 8, 2014, Pages 1034-1042

Bridging over the troubled heterogeneity of SPG-related pathologies: Mechanisms unite what genetics divide

Author keywords

Genetic; Genotype phenotype correlations; Hereditary spastic paraplegia; Heterogeneity; Mechanisms of disease; Mutation; SPG

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; CELL MIGRATION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE FIBER TRANSPORT; NEUROIMAGING; NONHUMAN; PATHOGENESIS; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SPASTIC GAIT;

EID: 84911492221     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/1566524014666141010154526     Document Type: Article
Times cited : (2)

References (85)
  • 1
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1: 1151-1155.
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 2
    • 84878770734 scopus 로고    scopus 로고
    • Hereditary ataxia and spastic paraplegia in Portugal: A population-based prevalence study
    • Coutinho P, Ruano L, Loureiro JL, et al. Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. JAMA Neurol 2013; 70: 746-755.
    • (2013) JAMA Neurol , vol.70 , pp. 746-755
    • Coutinho, P.1    Ruano, L.2    Loureiro, J.L.3
  • 3
    • 67649395907 scopus 로고    scopus 로고
    • Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: A population-based study
    • Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 2009; 132: 1577-1588.
    • (2009) Brain , vol.132 , pp. 1577-1588
    • Erichsen, A.K.1    Koht, J.2    Stray-Pedersen, A.3    Abdelnoor, M.4    Tallaksen, C.M.5
  • 4
    • 66949163191 scopus 로고
    • 2000 Aug 15 [updated 2009 Feb03]. n: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle
    • Fink JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [updated 2009 Feb03]. n: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
    • (1993) Hereditary Spastic Paraplegia Overview
    • Fink, J.K.1
  • 5
    • 10044286171 scopus 로고    scopus 로고
    • Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
    • Durr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004; 61: 1867-1872.
    • (2004) Arch Neurol , vol.61 , pp. 1867-1872
    • Durr, A.1    Camuzat, A.2    Colin, E.3
  • 6
    • 84878147053 scopus 로고    scopus 로고
    • Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia
    • Varga RE, Schüle R, Fadel H, et al. Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia. Hum Mutat 2013; 34: 860-863.
    • (2013) Hum Mutat , vol.34 , pp. 860-863
    • Varga, R.E.1    Schüle, R.2    Fadel, H.3
  • 7
    • 5444231843 scopus 로고    scopus 로고
    • Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
    • Svenson IK, Kloos MT, Gaskell PC, et al. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics 2004; 5: 157-164.
    • (2004) Neurogenetics , vol.5 , pp. 157-164
    • Svenson, I.K.1    Kloos, M.T.2    Gaskell, P.C.3
  • 8
    • 37249061606 scopus 로고    scopus 로고
    • Mental deficiency in three families with SPG4 spastic paraplegia
    • Ribai P, Depienne C, Fedirko E, et al. Mental deficiency in three families with SPG4 spastic paraplegia. Eur J Hum Genet 2008; 16: 97-104.
    • (2008) Eur J Hum Genet , vol.16 , pp. 97-104
    • Ribai, P.1    Depienne, C.2    Fedirko, E.3
  • 11
    • 0037437149 scopus 로고    scopus 로고
    • Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A
    • Xia CH, Roberts Ea, Her LS, et al. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A. J Cell Biol 2003; 161: 55-66.
    • (2003) J Cell Biol , vol.161 , pp. 55-66
    • Xia, C.H.1    Roberts Ea Her, L.S.2
  • 12
    • 1342310772 scopus 로고    scopus 로고
    • Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
    • Ferreirinha F, Quattrini A, Pirozzi M, et al. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 2004; 113: 231-242.
    • (2004) J Clin Invest , vol.113 , pp. 231-242
    • Ferreirinha, F.1    Quattrini, A.2    Pirozzi, M.3
  • 13
    • 13944280702 scopus 로고    scopus 로고
    • Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function
    • Sherwood NT, Sun Q, Xue M, et al. Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function. PLoS Biol 2004; 2: e429.
    • (2004) PLoS Biol , vol.2
    • Sherwood, N.T.1    Sun, Q.2    Xue, M.3
  • 14
    • 33845353014 scopus 로고    scopus 로고
    • A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition
    • Tarrade A, Fassier C, Courageot S, et al. A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet 2006; 15: 3544-3558.
    • (2006) Hum Mol Genet , vol.15 , pp. 3544-3558
    • Tarrade, A.1    Fassier, C.2    Courageot, S.3
  • 15
    • 33748747401 scopus 로고    scopus 로고
    • The microtubule-severing protein spastin is essential for axon outgrowth in the zebrafish embryo
    • Wood JD, Landers JA, Bingley M, et al. The microtubule-severing protein spastin is essential for axon outgrowth in the zebrafish embryo. Hum Mol Genet 2006; 15: 2763-2771.
    • (2006) Hum Mol Genet , vol.15 , pp. 2763-2771
    • Wood, J.D.1    Landers, J.A.2    Bingley, M.3
  • 16
    • 34249723183 scopus 로고    scopus 로고
    • The C. elegans homologue of the spastic paraplegia protein, spastin, disassembles microtubules
    • Matsushita-Ishiodori Y, Yamanaka K, Ogura T. The C. elegans homologue of the spastic paraplegia protein, spastin, disassembles microtubules. Biochem Biophys Res Commun 2007; 359: 157-162.
    • (2007) Biochem Biophys Res Commun , vol.359 , pp. 157-162
    • Matsushita-Ishiodori, Y.1    Yamanaka, K.2    Ogura, T.3
  • 17
    • 84862701627 scopus 로고    scopus 로고
    • Cellular pathways of hereditary spastic paraplegia
    • Blackstone C. Cellular pathways of hereditary spastic paraplegia. Annu Rev Neurosci 2012; 35: 25-47.
    • (2012) Annu Rev Neurosci , vol.35 , pp. 25-47
    • Blackstone, C.1
  • 18
    • 0026631671 scopus 로고
    • The neuropathology of hereditary spastic paraparesis
    • Bruyn RP. The neuropathology of hereditary spastic paraparesis. Clin Neurol Neurosurg 1992; 94: S16-S18.
    • (1992) Clin Neurol Neurosurg , vol.94 , pp. S16-S18
    • Bruyn, R.P.1
  • 19
    • 84863984884 scopus 로고    scopus 로고
    • White and grey matter abnormalities in patients with SPG11 mutations
    • França MC Jr, Yasuda CL, Pereira FR, et al. White and grey matter abnormalities in patients with SPG11 mutations. J Neurol Neurosurg Psychiatry 2012; 83: 828-833.
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , pp. 828-833
    • França, M.C.1    Yasuda, C.L.2    Pereira, F.R.3
  • 20
    • 0033930099 scopus 로고    scopus 로고
    • Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15
    • Shibasaki Y, Tanaka H, Iwabuchi K, et al. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15. Ann Neurol 2000; 48: 108-112.
    • (2000) Ann Neurol , vol.48 , pp. 108-112
    • Shibasaki, Y.1    Tanaka, H.2    Iwabuchi, K.3
  • 21
    • 34748818954 scopus 로고    scopus 로고
    • Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum
    • França MC Jr, D'Abreu A, Maurer-Morelli CV, et al. Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. Mov Disord 2007; 22: 1556-1562.
    • (2007) Mov Disord , vol.22 , pp. 1556-1562
    • França, M.C.1    D'Abreu, A.2    Maurer-Morelli, C.V.3
  • 22
    • 33847298447 scopus 로고    scopus 로고
    • Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
    • Stevanin G, Santorelli FM, Azzedine H, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007; 39: 366-372.
    • (2007) Nat Genet , vol.39 , pp. 366-372
    • Stevanin, G.1    Santorelli, F.M.2    Azzedine, H.3
  • 23
    • 78649984334 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
    • Verny C, Guegen N, Desquiret V, et al. Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Mitochondrion 2011; 11: 70-75.
    • (2011) Mitochondrion , vol.11 , pp. 70-75
    • Verny, C.1    Guegen, N.2    Desquiret, V.3
  • 24
    • 0025876335 scopus 로고
    • Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
    • Polo JM, Calleja J, Combarros O, et al. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain 1991; 114: 855-866.
    • (1991) Brain , vol.114 , pp. 855-866
    • Polo, J.M.1    Calleja, J.2    Combarros, O.3
  • 25
    • 40849083525 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15 and further genetic heterogeneity
    • Boukhris A, Stevanin G, Feki I, et al. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15 and further genetic heterogeneity. Arch Neurol 2008; 65: 393-402.
    • (2008) Arch Neurol , vol.65 , pp. 393-402
    • Boukhris, A.1    Stevanin, G.2    Feki, I.3
  • 26
    • 52949096819 scopus 로고    scopus 로고
    • Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease
    • Wang JM, Wu Y, Wang HF, et al. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease. Chin Med J (Engl) 2008; 121: 1638-1642.
    • (2008) Chin Med J (Engl) , vol.121 , pp. 1638-1642
    • Wang, J.M.1    Wu, Y.2    Wang, H.F.3
  • 27
    • 0344664376 scopus 로고    scopus 로고
    • Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutation
    • McDermott CJ, Grierson AJ, Wood JD, et al. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann Neurol 2003; 54: 748-759.
    • (2003) Ann Neurol , vol.54 , pp. 748-759
    • McDermott, C.J.1    Grierson, A.J.2    Wood, J.D.3
  • 28
    • 42449112452 scopus 로고    scopus 로고
    • Spastic paraplegia in Romania: High prevalence of SPG4 mutations
    • Orlacchio A, Patrono C, Borreca A, et al. Spastic paraplegia in Romania: high prevalence of SPG4 mutations. J Neurol Neurosurg Psychiatry 2007; 79: 606-607.
    • (2007) J Neurol Neurosurg Psychiatry , vol.79 , pp. 606-607
    • Orlacchio, A.1    Patrono, C.2    Borreca, A.3
  • 29
    • 33644895434 scopus 로고    scopus 로고
    • De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
    • Rainier S, Sher C, Reish O, et al. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol 2006; 63: 445-447.
    • (2006) Arch Neurol , vol.63 , pp. 445-447
    • Rainier, S.1    Sher, C.2    Reish, O.3
  • 30
    • 34447536966 scopus 로고    scopus 로고
    • Characterization of a novel SPG3A deletion in a French-Canadian family
    • Meijer IA, Dion P, Laurent S, et al. Characterization of a novel SPG3A deletion in a French-Canadian family. Ann Neurol 2007; 61: 599-603.
    • (2007) Ann Neurol , vol.61 , pp. 599-603
    • Meijer, I.A.1    Dion, P.2    Laurent, S.3
  • 31
    • 33645806761 scopus 로고    scopus 로고
    • SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
    • Namekawa M, Ribai P, Nelson I, et al. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 2006; 66: 112-114.
    • (2006) Neurology , vol.66 , pp. 112-114
    • Namekawa, M.1    Ribai, P.2    Nelson, I.3
  • 32
    • 33845991876 scopus 로고    scopus 로고
    • Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
    • Valdmanis PN, Meijer IA, Reynolds A, et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 2007; 80: 152-161.
    • (2007) Am J Hum Genet , vol.80 , pp. 152-161
    • Valdmanis, P.N.1    Meijer, I.A.2    Reynolds, A.3
  • 33
    • 10744229057 scopus 로고    scopus 로고
    • Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
    • Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004; 36: 271-276.
    • (2004) Nat Genet , vol.36 , pp. 271-276
    • Windpassinger, C.1    Auer-Grumbach, M.2    Irobi, J.3
  • 34
    • 84863011952 scopus 로고    scopus 로고
    • Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
    • Montenegro G, Rebelo AP, Connell J, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest 2012; 122: 538-544.
    • (2012) J Clin Invest , vol.122 , pp. 538-544
    • Montenegro, G.1    Rebelo, A.P.2    Connell, J.3
  • 35
    • 0033069503 scopus 로고    scopus 로고
    • Genetic mapping to 10q23. 3-q24. 2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
    • Seri M, Cusano R, Forabosco P, et al. Genetic mapping to 10q23. 3-q24. 2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999; 64: 586-593.
    • (1999) Am J Hum Genet , vol.64 , pp. 586-593
    • Seri, M.1    Cusano, R.2    Forabosco, P.3
  • 36
    • 40749142468 scopus 로고    scopus 로고
    • Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
    • Tsaousidou MK, Ouahchi K, Warner TT, et al. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 2008; 82: 510-515.
    • (2008) Am J Hum Genet , vol.82 , pp. 510-515
    • Tsaousidou, M.K.1    Ouahchi, K.2    Warner, T.T.3
  • 37
    • 64149091321 scopus 로고    scopus 로고
    • Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia
    • Schüle R, Brandt E, Karle KN, et al. Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics 2009; 10: 97-104.
    • (2009) Neurogenetics , vol.10 , pp. 97-104
    • Schüle, R.1    Brandt, E.2    Karle, K.N.3
  • 38
    • 59149086340 scopus 로고    scopus 로고
    • White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
    • Biancheri R, Ciccolella M, Rossi A, et al. White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. Neuromuscul Disord 2009; 19: 62-65.
    • (2009) Neuromuscul Disord , vol.19 , pp. 62-65
    • Biancheri, R.1    Ciccolella, M.2    Rossi, A.3
  • 39
    • 35148865160 scopus 로고    scopus 로고
    • Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description
    • Klebe S, Durr A, Bouslam N, et al. Spastic paraplegia 5: locus refinement, candidate gene analysis and clinical description. Am J Med Genet B Neuropsychiatr Genet 2007; 144: 854-861.
    • (2007) Am J Med Genet B Neuropsychiatr Genet , vol.144 , pp. 854-861
    • Klebe, S.1    Durr, A.2    Bouslam, N.3
  • 40
    • 42049097275 scopus 로고    scopus 로고
    • A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
    • Arnoldi A, Tonelli A, Crippa F, et al. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 2008; 29: 522-531.
    • (2008) Hum Mutat , vol.29 , pp. 522-531
    • Arnoldi, A.1    Tonelli, A.2    Crippa, F.3
  • 41
    • 33645883251 scopus 로고    scopus 로고
    • Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
    • Elleuch N, Depienne C, Benomar A, et al. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology 2006; 66: 654-659.
    • (2006) Neurology , vol.66 , pp. 654-659
    • Elleuch, N.1    Depienne, C.2    Benomar, A.3
  • 42
    • 34547626585 scopus 로고    scopus 로고
    • A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation
    • Warnecke T, Duning T, Schwan A, et al. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. Neurology 2007; 69: 368-375.
    • (2007) Neurology , vol.69 , pp. 368-375
    • Warnecke, T.1    Duning, T.2    Schwan, A.3
  • 43
    • 56149126723 scopus 로고    scopus 로고
    • Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes
    • Brugman F, Scheffer H, Wokke JH, et al. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology 2008; 71: 1500-1505.
    • (2008) Neurology , vol.71 , pp. 1500-1505
    • Brugman, F.1    Scheffer, H.2    Wokke, J.H.3
  • 44
    • 84867734912 scopus 로고    scopus 로고
    • Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
    • Klebe S, Depienne C, Gerber S, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 2012; 135: 2980-2993.
    • (2012) Brain , vol.135 , pp. 2980-2993
    • Klebe, S.1    Depienne, C.2    Gerber, S.3
  • 45
    • 61649106518 scopus 로고    scopus 로고
    • Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
    • Denora PS, Schlesinger D, Casali C, et al. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat 2009; 30: E500-19.
    • (2009) Hum Mutat , vol.30 , pp. E500-E519
    • Denora, P.S.1    Schlesinger, D.2    Casali, C.3
  • 46
    • 58149354675 scopus 로고    scopus 로고
    • Forceps minor region signal abnormality "ears of the lynx": An early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15
    • Riverol M, Samaranch L, Pascual B, et al. Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. J Neuroimaging 2009; 1: 52-60.
    • (2009) J Neuroimaging , vol.1 , pp. 52-60
    • Riverol, M.1    Samaranch, L.2    Pascual, B.3
  • 47
    • 39749114979 scopus 로고    scopus 로고
    • Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
    • Stevanin G, Azzedine H, Denora P, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008; 131: 772-784.
    • (2008) Brain , vol.131 , pp. 772-784
    • Stevanin, G.1    Azzedine, H.2    Denora, P.3
  • 48
    • 41549153666 scopus 로고    scopus 로고
    • Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal recessive spastic paraplegia including Kjellin syndrome
    • Hanein S, Martin E, Boukhris A, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal recessive spastic paraplegia including Kjellin syndrome. Am J Hum Genet 2008; 82: 992-1002.
    • (2008) Am J Hum Genet , vol.82 , pp. 992-1002
    • Hanein, S.1    Martin, E.2    Boukhris, A.3
  • 49
    • 58249143356 scopus 로고    scopus 로고
    • Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population
    • Denora PS, Muglia M, Casali C, et al. Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. J Neurol Sci 2009; 277: 22-25.
    • (2009) J Neurol Sci , vol.277 , pp. 22-25
    • Denora, P.S.1    Muglia, M.2    Casali, C.3
  • 50
    • 2942590954 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Clinical genetic study of 15 families
    • Orlacchio A, Kawarai T, Totaro A, et al. Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 2004; 61: 849-855.
    • (2004) Arch Neurol , vol.61 , pp. 849-855
    • Orlacchio, A.1    Kawarai, T.2    Totaro, A.3
  • 51
    • 84856203894 scopus 로고    scopus 로고
    • Genetics of hereditary spastic paraplegias
    • Schüle R, Schöls L. Genetics of hereditary spastic paraplegias. Semin Neurol 2011; 31: 484-493.
    • (2011) Semin Neurol , vol.31 , pp. 484-493
    • Schüle, R.1    Schöls, L.2
  • 52
    • 8944250670 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Advances in genetic research. Hereditary Spastic Paraplegia Working Group
    • Fink JK, Heiman-Patterson T, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working Group. Neurology 1996; 46: 1507-1514.
    • (1996) Neurology , vol.46 , pp. 1507-1514
    • Fink, J.K.1    Heiman-Patterson, T.2    Bird, T.3
  • 53
    • 33645114694 scopus 로고    scopus 로고
    • Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases
    • Depienne C, Tallaksen C, Lephay JY, et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases. J Med Genet 2006; 43: 259-265.
    • (2006) J Med Genet , vol.43 , pp. 259-265
    • Depienne, C.1    Tallaksen, C.2    Lephay, J.Y.3
  • 54
    • 42449095555 scopus 로고    scopus 로고
    • Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity
    • Ebbing B, Mann K, Starosta A, et al. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet 2008; 17: 1245-1252.
    • (2008) Hum Mol Genet , vol.17 , pp. 1245-1252
    • Ebbing, B.1    Mann, K.2    Starosta, A.3
  • 55
    • 33947713961 scopus 로고    scopus 로고
    • Recognition of C-terminal amino acids in tubulin by pore loops in spastin is important for microtubule severing
    • White SR, Evans KJ, Lary J, et al. Recognition of C-terminal amino acids in tubulin by pore loops in spastin is important for microtubule severing. J Cell Biol 2007; 176: 995-1005.
    • (2007) J Cell Biol , vol.176 , pp. 995-1005
    • White, S.R.1    Evans, K.J.2    Lary, J.3
  • 56
    • 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, Rugarli EI. 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: 2121-2132.
    • (2004) Hum Mol Genet , vol.13 , pp. 2121-2132
    • Errico, A.1    Claudiani, P.2    D'Addio, M.3    Rugarli, E.I.4
  • 57
    • 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, et al. The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. Curr Biol 2004; 14: 1135-1147.
    • (2004) Curr Biol , vol.14 , pp. 1135-1147
    • Trotta, N.1    Orso, G.2    Rossetto, M.G.3
  • 58
    • 28844436513 scopus 로고    scopus 로고
    • Human spastin has multiple microtubule-related functions
    • Salinas S, Carazo-Salas RE, Proukakis C, et al. Human spastin has multiple microtubule-related functions. J Neurochem 2005; 95: 1411-1420.
    • (2005) J Neurochem , vol.95 , pp. 1411-1420
    • Salinas, S.1    Carazo-Salas, R.E.2    Proukakis, C.3
  • 59
    • 44949204601 scopus 로고    scopus 로고
    • The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches
    • Yu W, Qiang L, Solowska JM, et al. The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches. Mol Biol Cell 2008; 19: 1485-1498.
    • (2008) Mol Biol Cell , vol.19 , pp. 1485-1498
    • Yu, W.1    Qiang, L.2    Solowska, J.M.3
  • 60
    • 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, et al. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Proc Natl Acad Sci U S A 2006; 103: 10666-10671.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 10666-10671
    • Evans, K.1    Keller, C.2    Pavur, K.3
  • 61
    • 31144453436 scopus 로고    scopus 로고
    • Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners
    • Sanderson CM, Connell JW, Edwards TL, et al. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet 2006; 15: 307-318.
    • (2006) Hum Mol Genet , vol.15 , pp. 307-318
    • Sanderson, C.M.1    Connell, J.W.2    Edwards, T.L.3
  • 62
    • 44349157134 scopus 로고    scopus 로고
    • Atlastin GTPase are required for Golgi apparatus and ER morphogenesis
    • Rismanchi N, Soderblom C, Staedler J, et al. Atlastin GTPase are required for Golgi apparatus and ER morphogenesis. Hum Mol Genet 2008; 17: 1591-1604.
    • (2008) Hum Mol Genet , vol.17 , pp. 1591-1604
    • Rismanchi, N.1    Soderblom, C.2    Staedler, J.3
  • 63
    • 34247275788 scopus 로고    scopus 로고
    • NIPA1 (SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter
    • Goytain A, Hines RM, El Husseini A, et al. NIPA1 (SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. J Biol Chem 2007; 282: 8060-8068.
    • (2007) J Biol Chem , vol.282 , pp. 8060-8068
    • Goytain, A.1    Hines, R.M.2    El Husseini, A.3
  • 64
    • 70349579493 scopus 로고    scopus 로고
    • The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
    • Tsang HT, Edwards TL, Wang X, et al. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum Mol Genet 2009; 18: 3805-3821.
    • (2009) Hum Mol Genet , vol.18 , pp. 3805-3821
    • Tsang, H.T.1    Edwards, T.L.2    Wang, X.3
  • 65
    • 33748043331 scopus 로고    scopus 로고
    • The hereditary spastic paraplegia protein spartin localises to mitochondria
    • Lu J, Rashid F, Byrne PC. The hereditary spastic paraplegia protein spartin localises to mitochondria. J Neurochem 2006; 98: 1908-1919.
    • (2006) J Neurochem , vol.98 , pp. 1908-1919
    • Lu, J.1    Rashid, F.2    Byrne, P.C.3
  • 66
    • 33747611457 scopus 로고    scopus 로고
    • Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons
    • Robay D, Patel H, Simpson MA, et al. Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. Exp Cell Res 2006; 312: 2764-2777.
    • (2006) Exp Cell Res , vol.312 , pp. 2764-2777
    • Robay, D.1    Patel, H.2    Simpson, M.A.3
  • 67
    • 79955779955 scopus 로고    scopus 로고
    • SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2 + homeostasis
    • Joshi DC, Bakowska JC. SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2 + homeostasis. PLoS One 2011; 6: e19290.
    • (2011) PLoS One , vol.6
    • Joshi, D.C.1    Bakowska, J.C.2
  • 68
    • 79957665130 scopus 로고    scopus 로고
    • Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia
    • Murmu RP, Martin E, Rastetter A, et al. Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol Cell Neurosci 2011; 47: 191-202.
    • (2011) Mol Cell Neurosci , vol.47 , pp. 191-202
    • Murmu, R.P.1    Martin, E.2    Rastetter, A.3
  • 70
    • 37849037355 scopus 로고    scopus 로고
    • Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia
    • Hehr U, Bauer P, Winner B, et al. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 2007; 62: 656-665.
    • (2007) Ann Neurol , vol.62 , pp. 656-665
    • Hehr, U.1    Bauer, P.2    Winner, B.3
  • 71
    • 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, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973-983.
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3
  • 72
    • 26844484821 scopus 로고    scopus 로고
    • The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria
    • Nolden M, Ehses S, Koppen M, et al. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell 2005; 123: 277-289.
    • (2005) Cell , vol.123 , pp. 277-289
    • Nolden, M.1    Ehses, S.2    Koppen, M.3
  • 73
    • 2442542546 scopus 로고    scopus 로고
    • A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
    • Wilkinson PA, Crosby AH, Turner C, et al. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 2004; 127: 973-980.
    • (2004) Brain , vol.127 , pp. 973-980
    • Wilkinson, P.A.1    Crosby, A.H.2    Turner, C.3
  • 74
    • 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, et al. Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. J Clin Invest 2006; 116: 202-208.
    • (2006) J Clin Invest , vol.116 , pp. 202-208
    • Pirozzi, M.1    Quattrini, A.2    Andolfi, G.3
  • 75
    • 33846127778 scopus 로고    scopus 로고
    • Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia
    • Koppen M, Metodiev MD, Casari G, et al. Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol Cell Biol 2007; 27: 758-767.
    • (2007) Mol Cell Biol , vol.27 , pp. 758-767
    • Koppen, M.1    Metodiev, M.D.2    Casari, G.3
  • 76
    • 43049159563 scopus 로고    scopus 로고
    • Decreased expression of mitochondrial matrix proteases Lon and ClpP in cells from patient with hereditary spastic paraplegia (SPG13)
    • Hansen J, Coryden TJ, Palmfeldt J, et al. Decreased expression of mitochondrial matrix proteases Lon and ClpP in cells from patient with hereditary spastic paraplegia (SPG13). Neuroscience 2008; 153: 474-482.
    • (2008) Neuroscience , vol.153 , pp. 474-482
    • Hansen, J.1    Coryden, T.J.2    Palmfeldt, J.3
  • 77
    • 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: 2727-2733.
    • (2002) Circulation , vol.106 , pp. 2727-2733
    • Gupta, S.1    Knowlton, A.A.2
  • 78
    • 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, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 2006; 79: 365-369.
    • (2006) Am J Hum Genet , vol.79 , pp. 365-369
    • Zuchner, S.1    Wang, G.2    Tran-Viet, K.N.3
  • 79
    • 0030666794 scopus 로고    scopus 로고
    • Disruption of the mouse L1 gene leads to malformations of the nervous system
    • Dahme M, Bartsch U, Martini R, et al. Disruption of the mouse L1 gene leads to malformations of the nervous system. Nat Genet 1997; 17: 346-349.
    • (1997) Nat Genet , vol.17 , pp. 346-349
    • Dahme, M.1    Bartsch, U.2    Martini, R.3
  • 80
    • 0036189424 scopus 로고    scopus 로고
    • Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
    • Garbern JY, Yool DA, Moore GJ, et al. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 2002; 125: 551-561.
    • (2002) Brain , vol.125 , pp. 551-561
    • Garbern, J.Y.1    Yool, D.A.2    Moore, G.J.3
  • 82
    • 41149133870 scopus 로고    scopus 로고
    • Neuropathy target esterase gene mutations cause motor neuron disease
    • Rainier S, Bui M, Mark E, et al. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 2008; 82: 780-785.
    • (2008) Am J Hum Genet , vol.82 , pp. 780-785
    • Rainier, S.1    Bui, M.2    Mark, E.3
  • 83
    • 84870900912 scopus 로고    scopus 로고
    • Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
    • Tesson C, Nawara M, Salih MA, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 2012; 91: 1051-1064.
    • (2012) Am J Hum Genet , vol.91 , pp. 1051-1064
    • Tesson, C.1    Nawara, M.2    Salih, M.A.3
  • 84
    • 0032521122 scopus 로고    scopus 로고
    • Cat cerebral arterial smooth muscle cells express cytochrome P450 4A2 enzyme and produce the vasoconstrictor 20-HETE which enhances L-type Ca2+ current
    • Gebremedhin D, Lange AR, Narayanan J, Aebly MR, Jacobs ER, Harder DR. Cat cerebral arterial smooth muscle cells express cytochrome P450 4A2 enzyme and produce the vasoconstrictor 20-HETE which enhances L-type Ca2+ current. J Physiol 1998; 507: 771-781.
    • (1998) J Physiol , vol.507 , pp. 771-781
    • Gebremedhin, D.1    Lange, A.R.2    Narayanan, J.3    Aebly, M.R.4    Jacobs, E.R.5    Harder, D.R.6


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