KEGG   DISEASE: Spinal and bulbar muscular atrophy (SBMA)Help
Entry
H00062                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00062  Spinal and bulbar muscular atrophy (SBMA)
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Motor neuron diseases or related disorders
   8B61  Spinal muscular atrophy
    H00062  Spinal and bulbar muscular atrophy (SBMA)
BRITE hierarchy
Gene
AR; androgen receptor (CAG repeat expansion) [HSA:367] [KO:K08557]
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
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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

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