메뉴 건너뛰기




Volumn 82, Issue 20, 2014, Pages 1813-1821

Brugada syndrome in spinal and bulbar muscular atrophy

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; SODIUM CHANNEL NAV1.5;

EID: 84902192163     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000434     Document Type: Article
Times cited : (43)

References (40)
  • 1
    • 0014310582 scopus 로고
    • Progressive proximal spinal and bulbar muscular atrophy of late onset: A sexlinked recessive trait
    • Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sexlinked 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
  • 2
  • 4
    • 84869870525 scopus 로고    scopus 로고
    • Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)
    • Katsuno M, Tanaka F, Adachi H, et al. Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA). Prog Neurobiol 2012;99:246-256.
    • (2012) Prog Neurobiol , vol.99 , pp. 246-256
    • Katsuno, M.1    Tanaka, F.2    Adachi, H.3
  • 5
    • 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
  • 6
    • 18544389189 scopus 로고    scopus 로고
    • A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length
    • Dejager S, Bry-Gauillard H, Bruckert E, et al. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J Clin Endocrinol Metab 2002;87:3893-3901.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 3893-3901
    • Dejager, S.1    Bry-Gauillard, H.2    Bruckert, E.3
  • 7
    • 0031682209 scopus 로고    scopus 로고
    • Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy
    • Li M, Nakagomi Y, Kobayashi Y, et al. Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy. Am J Pathol 1998;153:695-701.
    • (1998) Am J Pathol , vol.153 , pp. 695-701
    • Li, M.1    Nakagomi, Y.2    Kobayashi, Y.3
  • 8
    • 20144362557 scopus 로고    scopus 로고
    • Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients
    • Adachi H, Katsuno M, Minamiyama M, et al. Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain 2005;128:659-670.
    • (2005) Brain , vol.128 , pp. 659-670
    • Adachi, H.1    Katsuno, M.2    Minamiyama, M.3
  • 9
    • 33749442673 scopus 로고    scopus 로고
    • Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model
    • Yu Z, Dadgar N, Albertelli M, et al. Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J Clin Invest 2006;116:2663-2672.
    • (2006) J Clin Invest , vol.116 , pp. 2663-2672
    • Yu, Z.1    Dadgar, N.2    Albertelli, M.3
  • 10
    • 36549087642 scopus 로고    scopus 로고
    • Spinal and bulbar muscular atrophy: Skeletal muscle pathology in male patients and heterozygous females
    • Soraru G, D'Ascenzo C, Polo A, et al. Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 2008; 264:100-105.
    • (2008) J Neurol Sci , vol.264 , pp. 100-105
    • Soraru, G.1    D'Ascenzo, C.2    Polo, A.3
  • 11
    • 84879079114 scopus 로고    scopus 로고
    • Pilot trial of clenbuterol in spinal and bulbar muscular atrophy
    • Querin G, D'Ascenzo C, Peterle E, et al. Pilot trial of clenbuterol in spinal and bulbar muscular atrophy. Neurology 2013;80:2095-2098.
    • (2013) Neurology , vol.80 , pp. 2095-2098
    • Querin, G.1    D'Ascenzo, C.2    Peterle, E.3
  • 13
    • 0037027510 scopus 로고    scopus 로고
    • Proposed diagnostic criteria for the Brugada syndrome: Consensus report
    • Wilde AA, Antzelevitch C, Borggrefe M, et al. Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation 2002;106:2514-2519.
    • (2002) Circulation , vol.106 , pp. 2514-2519
    • Wilde, A.A.1    Antzelevitch, C.2    Borggrefe, M.3
  • 14
    • 13444300924 scopus 로고    scopus 로고
    • Brugada syndrome: Report of the second consensus conference: Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association
    • Antzelevitch C, Brugada P, Borggrefe M, et al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005;111: 659-670.
    • (2005) Circulation , vol.111 , pp. 659-670
    • Antzelevitch, C.1    Brugada, P.2    Borggrefe, M.3
  • 15
    • 84866433057 scopus 로고    scopus 로고
    • Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy
    • Hashizume A, Katsuno M, Banno H, et al. Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy. Brain 2012;135:2838-2848.
    • (2012) Brain , vol.135 , pp. 2838-2848
    • Hashizume, A.1    Katsuno, M.2    Banno, H.3
  • 16
    • 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
  • 17
    • 77951520909 scopus 로고    scopus 로고
    • Disrupted transforming growth factor-beta signaling in spinal and bulbar muscular atrophy
    • Katsuno M, Adachi H, Minamiyama M, et al. Disrupted transforming growth factor-beta signaling in spinal and bulbar muscular atrophy. J Neurosci 2010;30:5702-5712.
    • (2010) J Neurosci , vol.30 , pp. 5702-5712
    • Katsuno, M.1    Adachi, H.2    Minamiyama, M.3
  • 18
    • 0030044128 scopus 로고    scopus 로고
    • Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy
    • Tanaka F, Sobue G, Doyu M, et al. Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral- pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. J Neurol Sci 1996;135:43-50.
    • (1996) J Neurol Sci , vol.135 , pp. 43-50
    • Tanaka, F.1    Sobue, G.2    Doyu, M.3
  • 19
    • 28244480746 scopus 로고    scopus 로고
    • High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations
    • Makiyama T, Akao M, Tsuji K, et al. High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. J Am Coll Cardiol 2005;46:2100-2106.
    • (2005) J Am Coll Cardiol , vol.46 , pp. 2100-2106
    • Makiyama, T.1    Akao, M.2    Tsuji, K.3
  • 20
    • 84879365398 scopus 로고    scopus 로고
    • L-type calcium channel mutations in Japanese patients with inherited arrhythmias
    • Fukuyama M, Ohno S, Wang Q, et al. L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circ J 2013;77:1799-1806.
    • (2013) Circ J , vol.77 , pp. 1799-1806
    • Fukuyama, M.1    Ohno, S.2    Wang, Q.3
  • 21
    • 33745115069 scopus 로고    scopus 로고
    • Natural history of spinal and bulbar muscular atrophy (SBMA): A study of 223 Japanese patients
    • Atsuta N, Watanabe H, Ito M, et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 2006;129:1446-1455.
    • (2006) Brain , vol.129 , pp. 1446-1455
    • Atsuta, N.1    Watanabe, H.2    Ito, M.3
  • 22
    • 78751590932 scopus 로고    scopus 로고
    • Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: A randomised placebocontrolled trial
    • Fernandez-Rhodes LE, Kokkinis AD, White MJ, et al. Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebocontrolled trial. Lancet Neurol 2011;10:140-147.
    • (2011) Lancet Neurol , vol.10 , pp. 140-147
    • Fernandez-Rhodes, L.E.1    Kokkinis, A.D.2    White, M.J.3
  • 23
    • 15544378863 scopus 로고    scopus 로고
    • An autopsy case of Brugada syndrome with significant lesions in the sinus node
    • Morimoto S, Uemura A, Hishida H. An autopsy case of Brugada syndrome with significant lesions in the sinus node. J Cardiovasc Electrophysiol 2005;16:345-347.
    • (2005) J Cardiovasc Electrophysiol , vol.16 , pp. 345-347
    • Morimoto, S.1    Uemura, A.2    Hishida, H.3
  • 24
    • 33847347317 scopus 로고    scopus 로고
    • Sympathetic disturbances increase risk of sudden cardiac arrest in sporadic ALS
    • Asai H, Hirano M, Udaka F, et al. Sympathetic disturbances increase risk of sudden cardiac arrest in sporadic ALS. J Neurol Sci 2007;254:78-83.
    • (2007) J Neurol Sci , vol.254 , pp. 78-83
    • Asai, H.1    Hirano, M.2    Udaka, F.3
  • 26
    • 84870570379 scopus 로고    scopus 로고
    • Brugada syndrome: Two decades of progress
    • Veerakul G, Nademanee K. Brugada syndrome: two decades of progress. Circ J 2012;76:2713-2722.
    • (2012) Circ J , vol.76 , pp. 2713-2722
    • Veerakul, G.1    Nademanee, K.2
  • 27
    • 0034847364 scopus 로고    scopus 로고
    • The prevalence, incidence and prognostic value of the Brugada-type electrocardiogram: A population-based study of four decades
    • Matsuo K, Akahoshi M, Nakashima E, et al. The prevalence, incidence and prognostic value of the Brugada-type electrocardiogram: a population-based study of four decades. J Am Coll Cardiol 2001;38:765-770.
    • (2001) J Am Coll Cardiol , vol.38 , pp. 765-770
    • Matsuo, K.1    Akahoshi, M.2    Nakashima, E.3
  • 28
    • 0042469525 scopus 로고    scopus 로고
    • Proportion and prognosis of healthy people with coved or saddle-back type ST segment elevation in the right precordial leads during 10 years follow-up
    • Sakabe M, Fujiki A, Tani M, Nishida K, Mizumaki K, Inoue H. Proportion and prognosis of healthy people with coved or saddle-back type ST segment elevation in the right precordial leads during 10 years follow-up. Eur Heart J 2003;24:1488-1493.
    • (2003) Eur Heart J , vol.24 , pp. 1488-1493
    • Sakabe, M.1    Fujiki, A.2    Tani, M.3    Nishida, K.4    Mizumaki, K.5    Inoue, H.6
  • 29
    • 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, Spriggs EL. 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    Spriggs, E.L.4
  • 30
    • 0038714285 scopus 로고    scopus 로고
    • Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy
    • 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.
    • (2003) Nat Med , vol.9 , pp. 768-773
    • Katsuno, M.1    Adachi, H.2    Doyu, M.3
  • 31
    • 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
    • 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.
    • (2004) J Neurosci , vol.24 , pp. 4778-4786
    • Chevalier-Larsen, E.S.1    O'Brien, C.J.2    Wang, H.3
  • 32
    • 77957011660 scopus 로고    scopus 로고
    • Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy
    • Nedelsky NB, Pennuto M, Smith RB, et al. Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron 2010;67:936-952.
    • (2010) Neuron , vol.67 , pp. 936-952
    • Nedelsky, N.B.1    Pennuto, M.2    Smith, R.B.3
  • 33
    • 33947241926 scopus 로고    scopus 로고
    • Sex hormone and gender difference: Role of testosterone on male predominance in Brugada syndrome
    • Shimizu W, Matsuo K, Kokubo Y, et al. Sex hormone and gender difference: role of testosterone on male predominance in Brugada syndrome. J Cardiovasc Electrophysiol 2007;18:415-421.
    • (2007) J Cardiovasc Electrophysiol , vol.18 , pp. 415-421
    • Shimizu, W.1    Matsuo, K.2    Kokubo, Y.3
  • 34
    • 84886640658 scopus 로고    scopus 로고
    • No evidence of cardiomyopathy in spinal and bulbar muscular atrophy
    • Querin G, Melacini P, D'Ascenzo C, et al. No evidence of cardiomyopathy in spinal and bulbar muscular atrophy. Acta Neurol Scand 2013;128:e30-e32.
    • (2013) Acta Neurol Scand , vol.128
    • Querin, G.1    Melacini, P.2    D'Ascenzo, C.3
  • 35
    • 53549097643 scopus 로고    scopus 로고
    • Prevalence and significance of Brugada-type ECG in 12,012 apparently healthy European subjects
    • Gallagher MM, Forleo GB, Behr ER, et al. Prevalence and significance of Brugada-type ECG in 12,012 apparently healthy European subjects. Int J Cardiol 2008;130:44-48.
    • (2008) Int J Cardiol , vol.130 , pp. 44-48
    • Gallagher, M.M.1    Forleo, G.B.2    Behr, E.R.3
  • 36
    • 84883461171 scopus 로고    scopus 로고
    • Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
    • Bezzina CR, Barc J, Mizusawa Y, et al. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet 2013;45:1044-1049.
    • (2013) Nat Genet , vol.45 , pp. 1044-1049
    • Bezzina, C.R.1    Barc, J.2    Mizusawa, Y.3
  • 37
    • 84876338437 scopus 로고    scopus 로고
    • Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome
    • Calloe K, Refaat MM, Grubb S, et al. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circ Arrhythm Electrophysiol 2013;6:177-184.
    • (2013) Circ Arrhythm Electrophysiol , vol.6 , pp. 177-184
    • Calloe, K.1    Refaat, M.M.2    Grubb, S.3
  • 38
    • 77958530066 scopus 로고    scopus 로고
    • Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy
    • Mo K, Razak Z, Rao P, et al. Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy. PLoS One 2010;5:e12922.
    • (2010) PLoS One , vol.5
    • Mo, K.1    Razak, Z.2    Rao, P.3
  • 39
    • 84870282997 scopus 로고    scopus 로고
    • Naratriptan mitigates CGRP1-associated motor neuron degeneration caused by an expanded polyglutamine repeat tract
    • Minamiyama M, Katsuno M, Adachi H, et al. Naratriptan mitigates CGRP1-associated motor neuron degeneration caused by an expanded polyglutamine repeat tract. Nat Med 2012;18:1531-1538.
    • (2012) Nat Med , vol.18 , pp. 1531-1538
    • Minamiyama, M.1    Katsuno, M.2    Adachi, H.3
  • 40
    • 44349134474 scopus 로고    scopus 로고
    • Concomitant-acquired long QT and Brugada syndromes associated with indapamide-induced hypokalemia and hyponatremia
    • Mok NS, Tong CK, Yuen HC. Concomitant-acquired long QT and Brugada syndromes associated with indapamide-induced hypokalemia and hyponatremia. Pacing Clin Electrophysiol 2008;31:772-775. Technology Technology Technology
    • (2008) Pacing Clin Electrophysiol , vol.31 , pp. 772-775
    • Mok, N.S.1    Tong, C.K.2    Yuen, H.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.