| H00062 | |
| H number | H00062 |
| Name | Spinal and bulbar muscular atrophy (SBMA); Kennedy disease |
| Description | 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. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | AR; androgen receptor (CAG repeat expansion) [HSA:367] [KO:K08557] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Disease class: polyglutamine disease Affected region: anterior horn, bulbar region (cerebellum, medulla oblongata, pons), dorsal root ganglia Microscopic lesion: neuronal and cytoplasmic inclusions |
| Other DBs | ICD-11: 8B61.4 ICD-10: G12.1 MeSH: D020966 OMIM: 313200 |
| Reference | PMID:19405197 AUTHORS Finsterer J TITLE Bulbar and spinal muscular atrophy (Kennedy's disease): a review. JOURNAL Eur J Neurol 16:556-61 (2009) DOI:10.1111/j.1468-1331.2009.02591.x PMID:19066230 AUTHORS Tokui K, Adachi H, Waza M, Katsuno M, Minamiyama M, Doi H, Tanaka K, Hamazaki J, Murata S, Tanaka F, Sobue G TITLE 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse. JOURNAL Hum Mol Genet 18:898-910 (2009) DOI:10.1093/hmg/ddn419 PMID:18775514 AUTHORS Jordan CL, Lieberman AP TITLE Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? JOURNAL Curr Opin Pharmacol 8:752-8 (2008) DOI:10.1016/j.coph.2008.08.006 PMID:18473821 AUTHORS Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G TITLE Molecular genetics and biomarkers of polyglutamine diseases. JOURNAL Curr Mol Med 8:221-34 (2008) DOI:10.2174/156652408784221298 PMID:17984063 AUTHORS Monks DA, Johansen JA, Mo K, Rao P, Eagleson B, Yu Z, Lieberman AP, Breedlove SM, Jordan CL TITLE Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. JOURNAL Proc Natl Acad Sci U S A 104:18259-64 (2007) DOI:10.1073/pnas.0705501104 PMID:17359355 AUTHORS Adachi H, Waza M, Katsuno M, Tanaka F, Doyu M, Sobue G TITLE Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy. JOURNAL Neuropathol Appl Neurobiol 33:135-51 (2007) DOI:10.1111/j.1365-2990.2007.00830.x PMID:17334372 AUTHORS Yang Z, Chang YJ, Yu IC, Yeh S, Wu CC, Miyamoto H, Merry DE, Sobue G, Chen LM, Chang SS, Chang C TITLE ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. JOURNAL Nat Med 13:348-53 (2007) DOI:10.1038/nm1547 PMID:15133611 AUTHORS Katsuno M, Adachi H, Tanaka F, Sobue G TITLE Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives. JOURNAL J Mol Med 82:298-307 (2004) DOI:10.1007/s00109-004-0530-7 PMID:14585172 AUTHORS Rudnicki DD, Margolis RL. TITLE Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. JOURNAL Expert Rev Mol Med 5:1-24 (2003) DOI:10.1017/S1462399403006598 PMID:12470181 AUTHORS Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Haussler J, Ludolph AC, Hanemann CO TITLE X-linked bulbospinal neuronopathy: Kennedy disease. JOURNAL Arch Neurol 59:1921-6 (2002) DOI:10.1001/archneur.59.12.1921 PMID:12189162 AUTHORS McManamny P, Chy HS, Finkelstein DI, Craythorn RG, Crack PJ, Kola I, Cheema SS, Horne MK, Wreford NG, O'Bryan MK, De Kretser DM, Morrison JR TITLE A mouse model of spinal and bulbar muscular atrophy. JOURNAL Hum Mol Genet 11:2103-11 (2002) DOI:10.1093/hmg/11.18.2103 PMID:12161529 AUTHORS Dejager S, Bry-Gauillard H, Bruckert E, Eymard B, Salachas F, LeGuern E, Tardieu S, Chadarevian R, Giral P, Turpin G TITLE A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. JOURNAL J Clin Endocrinol Metab 87:3893-901 (2002) DOI:10.1210/jcem.87.8.8780 PMID:2062380 AUTHORS La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH TITLE Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. JOURNAL Nature 352:77-9 (1991) DOI:10.1038/352077a0 PMID:1449253 AUTHORS Doyu M, Sobue G, Mukai E, Kachi T, Yasuda T, Mitsuma T, Takahashi A TITLE Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. JOURNAL Ann Neurol 32:707-10 (1992) DOI:10.1002/ana.410320517 PMID:1303283 AUTHORS La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH TITLE Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. JOURNAL Nat Genet 2:301-4 (1992) DOI:10.1038/ng1292-301 |