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Volumn 685, Issue , 2010, Pages 64-74

Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA)

Author keywords

[No Author keywords available]

Indexed keywords

ALVESPIMYCIN; ANDROGEN RECEPTOR; GELDANAMYCIN; HEAT SHOCK PROTEIN; LEUPRORELIN; TEPRENONE; TESTOSTERONE;

EID: 77955883056     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-6448-9_6     Document Type: Article
Times cited : (29)

References (62)
  • 2
    • 0014310582 scopus 로고
    • Progressive proximal spinal and bulbar muscular atrophy of late onset A sex-linked recessive trait
    • Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968; 18:671-680.
    • (1968) Neurology , vol.18 , pp. 671-680
    • Kennedy, W.R.1    Alter, M.2    Sung, J.H.3
  • 6
    • 49449083559 scopus 로고    scopus 로고
    • Walking capacity evaluated by the 6-minute walk test in spinal and bulbar muscular atrophy
    • Takeuchi Y, Katsuno M, Banno H et al. Walking capacity evaluated by the 6-minute walk test in spinal and bulbar muscular atrophy. Muscle Nerve 2008; 38:964-971.
    • (2008) Muscle Nerve , vol.38 , pp. 964-971
    • Takeuchi, Y.1    Katsuno, M.2    Banno, H.3
  • 7
    • 13844312634 scopus 로고    scopus 로고
    • Laryngospasm: An underdiagnosed symptom of X-linked spinobulbar muscular atrophy
    • Sperfeld AD, Hanemann CO, Ludolph AC et al. Laryngospasm: An underdiagnosed symptom of X-linked spinobulbar muscular atrophy. Neurology 2005; 64:753-754. (Pubitemid 40261918)
    • (2005) Neurology , vol.64 , Issue.4 , pp. 753-754
    • Sperfeld, A.-D.1    Hanemann, C.O.2    Ludolph, A.C.3    Kassubek, J.4
  • 8
    • 37549036991 scopus 로고    scopus 로고
    • CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA
    • Suzuki K, Katsuno M, Banno H et al. CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA. Brain 2008; 131:229-239.
    • (2008) Brain , vol.131 , pp. 229-239
    • Suzuki, K.1    Katsuno, M.2    Banno, H.3
  • 9
    • 57449115893 scopus 로고    scopus 로고
    • Muscular fatigue and decremental response to repetitive nerve stimulation in X-linked spinobulbar muscular atrophy
    • Inoue K, Hemmi S, Miyaishi M et al. Muscular fatigue and decremental response to repetitive nerve stimulation in X-linked spinobulbar muscular atrophy. Eur J Neurol 2009; 16:76-80.
    • (2009) Eur J Neurol , vol.16 , pp. 76-80
    • Inoue, K.1    Hemmi, S.2    Miyaishi, M.3
  • 12
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352:77-79. (Pubitemid 21896702)
    • (1991) Nature , vol.352 , Issue.6330 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 13
    • 0030700891 scopus 로고    scopus 로고
    • Rethinking genotype and phenotype correlations in polyglutamine expansion disorders
    • DOI 10.1093/hmg/6.12.2005
    • Andrew SE, Goldberg YP, Hayden MR. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet 1997; 6:2005-2010. (Pubitemid 27477941)
    • (1997) Human Molecular Genetics , vol.6 , Issue.12 , pp. 2005-2010
    • Andrew, S.E.1    Goldberg, Y.P.2    Hayden, M.R.3
  • 14
    • 25844487226 scopus 로고    scopus 로고
    • Diseases of unstable repeat expansion: Mechanisms and common principles
    • DOI 10.1038/nrg1691
    • Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: Mechanism and principles. Nat Rev Genet 2005; 6:743-755. (Pubitemid 41400832)
    • (2005) Nature Reviews Genetics , vol.6 , Issue.10 , pp. 743-755
    • Gatchel, J.R.1    Zoghbi, H.Y.2
  • 16
    • 0026456689 scopus 로고
    • Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
    • Doyu M, Sobue G, Mukai E et al. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 1992; 32:707-710.
    • (1992) Ann Neurol , vol.32 , pp. 707-710
    • Doyu, M.1    Sobue, G.2    Mukai, E.3
  • 18
  • 20
    • 7244236320 scopus 로고    scopus 로고
    • Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
    • DOI 10.1038/nature02998
    • Arrasate M, Mitra S, Schweitzer ES et al. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 2004; 431:805-810. (Pubitemid 39434070)
    • (2004) Nature , vol.431 , Issue.7010 , pp. 805-810
    • Arrasate, M.1    Mitra, S.2    Schweitzer, E.S.3    Segal, M.R.4    Finkbeiner, S.5
  • 24
    • 2942588983 scopus 로고    scopus 로고
    • The polyglutamine tract of androgen receptor: From functions to dysfunctions in motor neurons
    • DOI 10.1016/j.yfrne.2004.03.001, PII S0091302204000020
    • Poletti A. The polyglutamine tract of androgen receptor: From functions to dysfunctions in motor neurons. Front. Neuroendocrinol 2004; 25:1-26. (Pubitemid 38744538)
    • (2004) Frontiers in Neuroendocrinology , vol.25 , Issue.1 , pp. 1-26
    • Poletti, A.1
  • 25
    • 18344399938 scopus 로고    scopus 로고
    • Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death
    • Adachi H, Kume A, Li M et al. Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death. Hum Mol Genet 2001; 10:1039-1048. (Pubitemid 32447781)
    • (2001) Human Molecular Genetics , vol.10 , Issue.10 , pp. 1039-1048
    • Adachi, H.1    Kume, A.2    Li, M.3    Nakagomi, Y.4    Niwa, H.5    Do, J.6    Sang, C.7    Kobayashi, Y.8    Doyu, M.9    Sobue, G.10
  • 26
    • 4344674075 scopus 로고    scopus 로고
    • Role of heat shock proteins during polyglutamine neurodegeneration: Mechanisms and hypothesis
    • Wyttenbach A. Role of heat shock proteins during polyglutamine neurodegeneration: Mechanisms and hypothesis. J Mol Neurosci 2004; 23:69-96.
    • (2004) J Mol Neurosci , vol.23 , pp. 69-96
    • Wyttenbach, A.1
  • 27
    • 11144243412 scopus 로고    scopus 로고
    • Modulation of neurodegeneration by molecular chaperones
    • DOI 10.1038/nrn1587
    • Muchowski PJ, Wacker JL. Modulation of neurodegeneration by molecular chaperones. Nat Rev Neurosci 2005; 6:11-22. (Pubitemid 40052135)
    • (2005) Nature Reviews Neuroscience , vol.6 , Issue.1 , pp. 11-22
    • Muchowski, P.J.1    Wacker, J.L.2
  • 28
    • 34047269594 scopus 로고    scopus 로고
    • Soluble androgen receptor oligomers underlie pathology in a mouse model of spinobulbar muscular atrophy
    • DOI 10.1074/jbc.M609972200
    • Li M, Chevalier-Larsen ES, Merry DE et al. Soluble androgen receptor oligomers underlie pathology in a mouse model of spinobulbar muscular atrophy. J Biol Chem 2007; 282:3157-3164. (Pubitemid 47084317)
    • (2007) Journal of Biological Chemistry , vol.282 , Issue.5 , pp. 3157-3164
    • Li, M.1    Chevalier-Larsen, E.S.2    Merry, D.E.3    Diamond, M.I.4
  • 29
    • 18644379256 scopus 로고    scopus 로고
    • Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
    • Katsuno M, Adachi H, Kume A et al. Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 2002; 35:843-854.
    • (2002) Neuron , vol.35 , pp. 843-854
    • Katsuno, M.1    Adachi, H.2    Kume, A.3
  • 30
    • 30344458745 scopus 로고    scopus 로고
    • Abnormalities of germ cell maturation and sertoli cell cytoskeleton in androgen receptor 113 CAG knock-in mice reveal toxic effects of the mutant protein
    • DOI 10.2353/ajpath.2006.050619
    • Yu Z, Dadgar N, Albertelli M et al. Abnormalities of germ cell maturation and sertoli cell cytoskeleton in androgen receptor 113 CAG knock-in mice reveal toxic effects of the mutant protein. Am J Pathol 2006; 168:195-204. (Pubitemid 43062573)
    • (2006) American Journal of Pathology , vol.168 , Issue.1 , pp. 195-204
    • Yu, Z.1    Dadgar, N.2    Albertelli, M.3    Scheller, A.4    Albin, R.L.5    Robins, D.M.6    Lieberman, A.P.7
  • 31
    • 65549163327 scopus 로고    scopus 로고
    • Cytoplasmic Retention of Polyglutamine-Expanded Androgen Receptor Ameliorates Disease via Autophagy in a Mouse Model of Spinal and Bulbar Muscular Atrophy
    • Epub ahead of print
    • Montie HL, Cho MS, Holder L et al. Cytoplasmic Retention of Polyglutamine-Expanded Androgen Receptor Ameliorates Disease via Autophagy in a Mouse Model of Spinal and Bulbar Muscular Atrophy. Hum Mol Genet 2009 (Epub ahead of print).
    • (2009) Hum Mol Genet
    • Montie, H.L.1    Cho, M.S.2    Holder, L.3
  • 32
    • 0037194896 scopus 로고    scopus 로고
    • Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila
    • Takeyama K, Ito S, Yamamoto A et al. Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 2002; 35:855-864.
    • (2002) Neuron , vol.35 , pp. 855-864
    • Takeyama, K.1    Ito, S.2    Yamamoto, A.3
  • 33
    • 2442719008 scopus 로고    scopus 로고
    • Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy
    • DOI 10.1523/JNEUROSCI.0808-04.2004
    • Chevalier-Larsen ES, O'Brien CJ, Wang H et al. Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy. J Neurosci 2004; 24:4778-4786. (Pubitemid 38668202)
    • (2004) Journal of Neuroscience , vol.24 , Issue.20 , pp. 4778-4786
    • Chevalier-Larsen, E.S.1    O'Brien, C.J.2    Wang, H.3    Jenkins, S.C.4    Holder, L.5    Lieberman, A.P.6    Merry, D.E.7
  • 35
    • 0037056302 scopus 로고    scopus 로고
    • Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women
    • Schmidt BJ, Greenberg CR, Allingham-Hawkins DJ et al. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 2002; 59:770-772.
    • (2002) Neurology , vol.59 , pp. 770-772
    • Schmidt, B.J.1    Greenberg, C.R.2    Allingham-Hawkins, D.J.3
  • 36
    • 37749026167 scopus 로고    scopus 로고
    • Administration of testosterone results in reversible deterioration in Kennedy's disease
    • Kinirons P, Rouleau GA. Administration of testosterone results in reversible deterioration in Kennedy's disease. J Neurol Neurosurg Psychiatry 2008; 79:106-107.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 106-107
    • Kinirons, P.1    Rouleau, G.A.2
  • 37
    • 0033995175 scopus 로고    scopus 로고
    • Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
    • DOI 10.1038/72101
    • Lin X, Antalffy B, Kang D et al. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci 2000; 3:157-163. (Pubitemid 30126331)
    • (2000) Nature Neuroscience , vol.3 , Issue.2 , pp. 157-163
    • Lin, X.1    Antalffy, B.2    Kang, D.3    Orr, H.T.4    Zoghbi, H.Y.5
  • 45
    • 62649094404 scopus 로고    scopus 로고
    • Aberrant E2F activation by polyglutamine expansion of androgen receptor in SBMA neurotoxicity
    • Suzuki E, Zhao Y, Ito S et al. Aberrant E2F activation by polyglutamine expansion of androgen receptor in SBMA neurotoxicity. Proc Natl Acad Sci USA 2009; 106:3818-3822.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 3818-3822
    • Suzuki, E.1    Zhao, Y.2    Ito, S.3
  • 48
    • 33745520772 scopus 로고    scopus 로고
    • JNK mediates pathogenic effects of polyglutamine-expanded androgen receptor on fast axonal transport
    • DOI 10.1038/nn1717, PII N1717
    • Morfini G, Pigino G, Szebenyi G et al. JNK mediates pathogenic effects of polyglutamine-expanded androgen receptor on fast axonal transport. Nat Neurosci 2006; 9:907-916. (Pubitemid 43980505)
    • (2006) Nature Neuroscience , vol.9 , Issue.7 , pp. 907-916
    • Morfini, G.1    Pigino, G.2    Szebenyi, G.3    You, Y.4    Pollema, S.5    Brady, S.T.6
  • 49
    • 60849095522 scopus 로고    scopus 로고
    • Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk
    • Young JE, Garden GA, Martinez RA et al. Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. J Neurosci 2009; 29:1987-1997.
    • (2009) J Neurosci , vol.29 , pp. 1987-1997
    • Young, J.E.1    Garden, G.A.2    Martinez, R.A.3
  • 50
    • 57649207936 scopus 로고    scopus 로고
    • Mitochondrial abnormalities in spinal and bulbar muscular atrophy
    • Ranganathan S, Harmison GG, Meyertholen K et al. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet 2009; 18:27-42.
    • (2009) Hum Mol Genet , vol.18 , pp. 27-42
    • Ranganathan, S.1    Harmison, G.G.2    Meyertholen, K.3
  • 53
    • 0038714285 scopus 로고    scopus 로고
    • Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy
    • DOI 10.1038/nm878
    • Katsuno M, Adachi H, Doyu M et al. Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat Med 2003; 9:768-773. (Pubitemid 36749228)
    • (2003) Nature Medicine , vol.9 , Issue.6 , pp. 768-773
    • Katsuno, M.1    Adachi, H.2    Doyu, M.3    Minamiyama, M.4    Sang, C.5    Kobayashi, Y.6    Inukai, A.7    Sobue, G.8
  • 54
    • 62549084738 scopus 로고    scopus 로고
    • Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy
    • Banno H, Katsuno M, Suzuki K et al. Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Ann Neurol 2009; 65:140-150.
    • (2009) Ann Neurol , vol.65 , pp. 140-150
    • Banno, H.1    Katsuno, M.2    Suzuki, K.3
  • 57
    • 60549084901 scopus 로고    scopus 로고
    • 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse
    • Tokui K, Adachi H, Waza M et al. 17-DMAG ameliorates polyglutamine- mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse. Hum Mol Genet 2009; 18:898-910.
    • (2009) Hum Mol Genet , vol.18 , pp. 898-910
    • Tokui, K.1    Adachi, H.2    Waza, M.3
  • 60
    • 0036501074 scopus 로고    scopus 로고
    • Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy
    • Bailey CK, Andriola IF, Kampinga HH et al. Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy. Hum Mol Genet 2002; 11:515-523. (Pubitemid 34257488)
    • (2002) Human Molecular Genetics , vol.11 , Issue.5 , pp. 515-523
    • Bailey, C.K.1    Andriola, I.F.M.2    Kampinga, H.H.3    Merry, D.E.4
  • 61
    • 34248327285 scopus 로고    scopus 로고
    • CHIP overexpression reduces mutant androgen receptor protein and ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model
    • DOI 10.1523/JNEUROSCI.1242-07.2007
    • Adachi H, Waza M, Tokui K et al. CHIP overexpression reduces mutant androgen receptor protein and ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model. J Neurosci 2007; 27:5115-5126. (Pubitemid 46741791)
    • (2007) Journal of Neuroscience , vol.27 , Issue.19 , pp. 5115-5126
    • Adachi, H.1    Waza, M.2    Tokui, K.3    Katsuno, M.4    Minamiyama, M.5    Tanaka, F.6    Doyu, M.7    Sobue, G.8
  • 62
    • 33744965475 scopus 로고    scopus 로고
    • Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA
    • DOI 10.1074/jbc.M511677200
    • Ying M, Xu R, Wu X et al. Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA. J Biol Chem 2006; 281:12580-12586. (Pubitemid 43855346)
    • (2006) Journal of Biological Chemistry , vol.281 , Issue.18 , pp. 12580-12586
    • Ying, M.1    Xu, R.2    Wu, X.3    Zhu, H.4    Zhuang, Y.5    Han, M.6    Xu, T.7


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