Spinal and bulbar muscular atrophy (SBMA)

Definition:

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease that only affects males. SBMA is caused by expansion of CAG trinucleotide repeats in the first exon of the androgen receptor gene. The expansion of encoded polyglutamine tracts results in protein aggregation and is associated with neuronal cell death.

References:

[1]. A R La Spada, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77-9. [Content Brief]

[2]. A R La Spada, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet. 1992 Dec;2(4):301-4. [Content Brief]

[3]. Anne D Sperfeld, et al. X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol. 2002 Dec;59(12):1921-6. [Content Brief]

[4]. Cynthia L Jordan, et al. Spinal and bulbar muscular atrophy: a motoneuron or muscle disease?. Curr Opin Pharmacol. 2008 Dec;8(6):752-8. [Content Brief]

[5]. Dobrila D Rudnicki, et al. Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Expert Rev Mol Med. 2003 Aug 22;5(21):1-24. [Content Brief]

[6]. Douglas Ashley Monks, et al. Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18259-64. [Content Brief]

[7]. H Adachi, et al. Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy. Neuropathol Appl Neurobiol. 2007 Apr;33(2):135-51. [Content Brief]

[8]. J Finsterer, et al. Bulbar and spinal muscular atrophy (Kennedy's disease): a review. Eur J Neurol. 2009 May;16(5):556-61. [Content Brief]

[9]. Keisuke Tokui, et al. 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse. Hum Mol Genet. 2009 Mar 1;18(5):898-910. [Content Brief]

[10]. M Doyu, et al. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol. 1992 Nov;32(5):707-10. [Content Brief]

[11]. Masahisa Katsuno, et al. Molecular genetics and biomarkers of polyglutamine diseases. Curr Mol Med. 2008 May;8(3):221-34. [Content Brief]

[12]. Masahisa Katsuno, et al. Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives. J Mol Med (Berl). 2004 May;82(5):298-307. [Content Brief]

[13]. Patrick McManamny, et al. A mouse model of spinal and bulbar muscular atrophy. Hum Mol Genet. 2002 Sep 1;11(18):2103-11. [Content Brief]

[14]. S Dejager, et al. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J Clin Endocrinol Metab. 2002 Aug;87(8):3893-901. [Content Brief]

[15]. Zhiming Yang, et al. ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. Nat Med. 2007 Mar;13(3):348-53. [Content Brief]

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