Spinal and bulbar muscular atrophy: pathogenesis and clinical management

被引：48

作者：

Grunseich, C. ^{[1
]}

Rinaldi, C. ^{[1
]}

Fischbeck, K. H. ^{[1
]}

机构：

[1] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

来源：

ORAL DISEASES | 2014年 / 20卷 / 01期

关键词：

genetics; craniofacial; motor neuron disease; spinal and bulbar muscular atrophy; Kennedy's disease; weakness; TRANSGENIC MOUSE MODEL; AMYOTROPHIC-LATERAL-SCLEROSIS; ANDROGEN RECEPTOR GENE; KENNEDY-DISEASE; EXPANDED POLYGLUTAMINE; PHENOTYPIC-EXPRESSION; PATHOLOGY; PROTEIN; REPEAT; NEURODEGENERATION;

D O I：

10.1111/odi.12121

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

Spinal and bulbar muscular atrophy, or Kennedy's disease, is an X-linked motor neuron disease caused by polyglutamine repeat expansion in the androgen receptor. The disease is characterised by weakness, atrophy and fasciculations in the limb and bulbar muscles. Affected males may have signs of androgen insensitivity, such as gynaecomastia and reduced fertility. Neurophysiological studies are typically consistent with diffuse denervation atrophy, and serum creatine kinase is usually elevated 2-5 times above normal. Progression of the disease is slow, and the focus of spinal and bulbar muscular atrophy (SBMA) management is to prevent complications.

引用

页码：6 / 9

页数：4

共 34 条

[1] Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death [J].

Arrasate, M ;

Mitra, S ;

Schweitzer, ES ;

Segal, MR ;

Finkbeiner, S .

NATURE, 2004, 431 (7010) :805-810

[2] 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

[3] 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

[4] Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease) [J].

Dias, Francisco A. ;

Munhoz, Renato P. ;

Raskin, Salmo ;

Werneck, Lineu Cesar ;

Teive, Helio A. G. .

CLINICS, 2011, 66 (06) :955-957

[5] SEVERITY OF X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY CORRELATES WITH SIZE OF THE TANDEM CAG REPEAT IN ANDROGEN RECEPTOR GENE [J].

DOYU, M ;

SOBUE, G ;

MUKAI, E ;

KACHI, T ;

YASUDA, T ;

MITSUMA, T ;

TAKAHASHI, A .

ANNALS OF NEUROLOGY, 1992, 32 (05) :707-710

[6] 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

[7] Diseases of unstable repeat expansion: Mechanisms and common principles [J].

Gatchel, JR ;

Zoghbi, HY .

NATURE REVIEWS GENETICS, 2005, 6 (10) :743-755

[8] Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy [J].

Ishihara, H ;

Kanda, F ;

Nishio, H ;

Sumino, K ;

Chihara, K .

JOURNAL OF NEUROLOGY, 2001, 248 (10) :856-860

[9] Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy [J].

Katsuno, M ;

Adachi, H ;

Doyu, M ;

Minamiyama, M ;

Sang, C ;

Kobayashi, Y ;

Inukai, A ;

Sobue, G .

NATURE MEDICINE, 2003, 9 (06) :768-773

[10] Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy [J].

Katsuno, M ;

Adachi, H ;

Kume, A ;

Li, M ;

Nakagomi, Y ;

Niwa, H ;

Sang, C ;

Kobayashi, Y ;

Doyu, M ;

Sobue, G .

NEURON, 2002, 35 (05) :843-854

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