KEGG DISEASE: Spinal and bulbar muscular atrophy (SBMA)

DISEASE: Spinal and bulbar muscular atrophy (SBMA)

Entry

H00062                      Disease

Name

Spinal and bulbar muscular atrophy (SBMA);
Kennedy disease;
X-linked spinal and bulbar muscular atrophy 1 (SMAX1)

Supergrp

Spinal muscular atrophy [DS:H00455]

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 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)

Gene

(SMAX1) AR (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

MeSH:

D055534

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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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