Brugada syndrome in spinal and bulbar muscular atrophy

被引：46

作者：

Araki, Amane ^{[1
]}

Katsuno, Masahisa ^{[1
]}

Suzuki, Keisuke ^{[1
]}

Banno, Haruhiko ^{[1
,2
]}

Suga, Noriaki ^{[1
]}

Hashizume, Atsushi ^{[1
]}

Mano, Tomoo ^{[1
]}

Hijikata, Yasuhiro ^{[1
]}

Nakatsuji, Hideaki ^{[1
]}

Watanabe, Hirohisa ^{[1
]}

Yamamoto, Masahiko ^{[3
]}

Makiyama, Takeru ^{[4
]}

Ohno, Seiko ^{[5
]}

Fukuyama, Megumi ^{[5
]}

Morimoto, Shin-ichiro ^{[6
]}

Horie, Minoru ^{[5
]}

Sobue, Gen ^{[1
]}

机构：

[1] Nagoya Univ, Grad Sch Med, Dept Neurol, Nagoya, Aichi 4648601, Japan

[2] Nagoya Univ, Inst Adv Res, Nagoya, Aichi 4648601, Japan

[3] Aichi Gakuin Univ, Sch Hlth Sci, Dept Speech Pathol & Audiol, Nisshin, Japan

[4] Kyoto Univ, Grad Sch Med, Dept Cardiovasc Med, Kyoto 6068501, Japan

[5] Shiga Univ Med Sci, Dept Cardiovasc & Resp Med, Otsu, Shiga, Japan

[6] Fujita Hlth Univ, Sch Med, Dept Internal Med, Div Cardiol, Toyoake, Aichi 47011, Japan

来源：

NEUROLOGY | 2014年 / 82卷 / 20期

基金：

日本科学技术振兴机构;

关键词：

TRANSGENIC MOUSE MODEL; ANDROGEN RECEPTOR; CHANNEL MUTATIONS; JAPANESE PATIENTS; KENNEDY-DISEASE; GENE-MUTATIONS; HIGH-RISK; REPEAT; SBMA; CARDIOMYOPATHY;

D O I：

10.1212/WNL.0000000000000434

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Objective:The aim of this study was to clarify myocardial involvement and its clinical implications in subjects with spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease affecting both neuronal and nonneuronal tissues.Methods:Two independent cardiologists evaluated ECGs from a total of 144 consecutive subjects with SBMA. We performed immunohistochemical, immunoblot, and quantitative real-time PCR analyses of autopsied myocardium.Results:Abnormal ECGs were detected in 70 (48.6%) of 144 subjects. The most frequent findings were ST-segment abnormalities in V1-3 (19.4%), followed by ST-segment abnormalities in V5-6 (18.1%). We detected Brugada-type ECGs in 17 of 28 subjects with ST-segment abnormalities in V1-3. Of those, one subject presented with syncope that required an implantable cardioverter defibrillator and led to eventual sudden death, and another subject also died suddenly. No subjects with Brugada-type ECGs had mutations in SCN5A, CACNA1C, or CACNB2 genes. In autopsied cases, we detected nuclear accumulation of the mutant androgen receptor protein and decreased expression levels of SCN5A in the myocardium.Conclusions:Subjects with SBMA often show Brugada-type ECG. The accumulation of the pathogenic androgen receptor may have a role in the myocardial involvement in SBMA.

引用

页码：1813 / 1821

页数：9

共 40 条

[1]

Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients [J].

Adachi, H ;

Katsuno, M ;

Minamiyama, M ;

Waza, M ;

Sang, C ;

Nakagomi, Y ;

Kobayashi, Y ;

Tanaka, F ;

Doyu, M ;

Inukai, A ;

Yoshida, M ;

Hashizume, Y ;

Sobue, G .

BRAIN, 2005, 128 :659-670

[2]

Brugada syndrome - Report of the second consensus conference - Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association [J].

Antzelevitch, C ;

Brugada, P ;

Borggrefe, M ;

Brugada, J ;

Brugada, R ;

Corrado, D ;

Gussak, I ;

LeMarec, H ;

Nademanee, K ;

Riera, ARP ;

Shimizu, W ;

Schulze-Bahr, E ;

Tan, H ;

Wilde, A .

CIRCULATION, 2005, 111 (05) :659-670

[3]

Sympathetic disturbances increase risk of sudden cardiac arrest in sporadic ALS [J].

Asai, Hirohide ;

Hirano, Makito ;

Udaka, Fukashi ;

Shimada, Keiji ;

Oda, Masaya ;

Kubori, Tamotsu ;

Nishinaka, Kazuto ;

Tsujimura, Takahiro ;

Izumi, Yuishin ;

Konishi, Noboru ;

Matsumoto, Sadayuki ;

Kameyama, Masakuni ;

Ueno, Satoshi .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2007, 254 (1-2) :78-83

[4]

Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients [J].

Atsuta, Naoki ;

Watanabe, Hirohisa ;

Ito, Mizuki ;

Banno, Haruhiko ;

Suzuki, Keisuke ;

Katsuno, Masahisa ;

Tanaka, Fumiaki ;

Tamakoshi, Akiko ;

Sobue, Gen .

BRAIN, 2006, 129 :1446-1455

[5]

Phase 2 Trial of Leuprorelin in Patients with Spinal and Bulbar Muscular Atrophy [J].

Banno, Haruhiko ;

Katsuno, Masahisa ;

Suzuki, Keisuke ;

Takeuchi, Yu ;

Kawashima, Motoshi ;

Suga, Noriaki ;

Takamori, Motoko ;

Ito, Mizuki ;

Nakamura, Tomohiko ;

Matsuo, Koji ;

Yamada, Shinichi ;

Oki, Yumiko ;

Adachi, Hiroaki ;

Minamiyama, Makoto ;

Waza, Masahiro ;

Atsuta, Naoki ;

Watanabe, Hirohisa ;

Fujimoto, Yasushi ;

Nakashima, Tsutomu ;

Tanaka, Fumiaki ;

Doyu, Manabu ;

Sobue, Gen .

ANNALS OF NEUROLOGY, 2009, 65 (02) :140-150

[6]

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death [J].

Bezzina, Connie R. ;

Barc, Julien ;

Mizusawa, Yuka ;

Remme, Carol Ann ;

Gourraud, Jean-Baptiste ;

Simonet, Floriane ;

Verkerk, Arie O. ;

Schwartz, Peter J. ;

Crotti, Lia ;

Dagradi, Federica ;

Guicheney, Pascale ;

Fressart, Veronique ;

Leenhardt, Antoine ;

Antzelevitch, Charles ;

Bartkowiak, Susan ;

Schulze-Bahr, Eric ;

Zumhagen, Sven ;

Behr, Elijah R. ;

Bastiaenen, Rachel ;

Tfelt-Hansen, Jacob ;

Olesen, Morten Salling ;

Kaeaeb, Stefan ;

Beckmann, Britt M. ;

Weeke, Peter ;

Watanabe, Hiroshi ;

Endo, Naoto ;

Minamino, Tohru ;

Horie, Minoru ;

Ohno, Seiko ;

Hasegawa, Kanae ;

Makita, Naomasa ;

Nogami, Akihiko ;

Shimizu, Wataru ;

Aiba, Takeshi ;

Froguel, Philippe ;

Balkau, Beverley ;

Lantieri, Olivier ;

Torchio, Margherita ;

Wiese, Cornelia ;

Weber, David ;

Wolswinkel, Rianne ;

Coronel, Ruben ;

Boukens, Bas J. ;

Bezieau, Stephane ;

Charpentier, Eric ;

Chatel, Stephanie ;

Despres, Aurore ;

Gros, Francoise ;

Kyndt, Florence ;

Lecointe, Simon .

NATURE GENETICS, 2013, 45 (09) :1044-+

[7]

Characterization and Mechanisms of Action of Novel NaV1.5 Channel Mutations Associated With Brugada Syndrome [J].

Calloe, Kirstine ;

Refaat, Marwan M. ;

Grubb, Soren ;

Wojciak, Julianne ;

Campagna, Joan ;

Thomsen, Nancy Mutsaers ;

Nussbaum, Robert L. ;

Scheinman, Melvin M. ;

Schmitt, Nicole .

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY, 2013, 6 (01) :177-184

[8]

Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy [J].

Chevalier-Larsen, ES ;

O'Brien, CJ ;

Wang, HY ;

Jenkins, SC ;

Holder, L ;

Lieberman, AP ;

Merry, DE .

JOURNAL OF NEUROSCIENCE, 2004, 24 (20) :4778-4786

[9]

A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length [J].

Dejager, S ;

Bry-Gauillard, H ;

Bruckert, E ;

Eymard, B ;

Salachas, F ;

Leguern, E ;

Tardieu, S ;

Chadarevian, R ;

Giral, P ;

Turpin, G .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (08) :3893-3901

[10]

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial [J].

Fernandez-Rhodes, Lindsay E. ;

Kokkinis, Angela D. ;

White, Michelle J. ;

Watts, Charlotte A. ;

Auh, Sungyoung ;

Jeffries, Neal O. ;

Shrader, Joseph A. ;

Lehky, Tanya J. ;

Li, Li ;

Ryder, Jennifer E. ;

Levy, Ellen W. ;

Solomon, Beth I. ;

Harris-Love, Michael O. ;

La Peon, Alison ;

Schindler, Alice B. ;

Chen, Cheunju ;

Di Prospero, Nicholas A. ;

Fischbeck, Kenneth H. .

LANCET NEUROLOGY, 2011, 10 (02) :140-147

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