| H00062 | |
| H番号 | H00062 |
| 名称 | 球脊髄性筋萎縮症 (SBMA); ケネディ病 |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | AR; androgen receptor (CAG repeat expansion) [HSA:367] [KO:K08557] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | リュープロレリン酢酸塩 [DR:D00989] |
| コメント | Disease class: polyglutamine disease Affected region: anterior horn, bulbar region (cerebellum, medulla oblongata, pons), dorsal root ganglia Microscopic lesion: neuronal and cytoplasmic inclusions |
| リンク | ICD-11: 8B61.4 ICD-10: G12.1 MeSH: D020966 OMIM: 313200 |
| 文献 | PMID:19405197 著者 Finsterer J タイトル Bulbar and spinal muscular atrophy (Kennedy's disease): a review. 雑誌 Eur J Neurol 16:556-61 (2009) DOI:10.1111/j.1468-1331.2009.02591.x PMID:19066230 著者 Tokui K, Adachi H, Waza M, Katsuno M, Minamiyama M, Doi H, Tanaka K, Hamazaki J, Murata S, Tanaka F, Sobue G タイトル 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse. 雑誌 Hum Mol Genet 18:898-910 (2009) DOI:10.1093/hmg/ddn419 PMID:18775514 著者 Jordan CL, Lieberman AP タイトル Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? 雑誌 Curr Opin Pharmacol 8:752-8 (2008) DOI:10.1016/j.coph.2008.08.006 PMID:18473821 著者 Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G タイトル Molecular genetics and biomarkers of polyglutamine diseases. 雑誌 Curr Mol Med 8:221-34 (2008) DOI:10.2174/156652408784221298 PMID:17984063 著者 Monks DA, Johansen JA, Mo K, Rao P, Eagleson B, Yu Z, Lieberman AP, Breedlove SM, Jordan CL タイトル Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. 雑誌 Proc Natl Acad Sci U S A 104:18259-64 (2007) DOI:10.1073/pnas.0705501104 PMID:17359355 著者 Adachi H, Waza M, Katsuno M, Tanaka F, Doyu M, Sobue G タイトル Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy. 雑誌 Neuropathol Appl Neurobiol 33:135-51 (2007) DOI:10.1111/j.1365-2990.2007.00830.x PMID:17334372 著者 Yang Z, Chang YJ, Yu IC, Yeh S, Wu CC, Miyamoto H, Merry DE, Sobue G, Chen LM, Chang SS, Chang C タイトル ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. 雑誌 Nat Med 13:348-53 (2007) DOI:10.1038/nm1547 PMID:15133611 著者 Katsuno M, Adachi H, Tanaka F, Sobue G タイトル Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives. 雑誌 J Mol Med 82:298-307 (2004) DOI:10.1007/s00109-004-0530-7 PMID:14585172 著者 Rudnicki DD, Margolis RL. タイトル Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. 雑誌 Expert Rev Mol Med 5:1-24 (2003) DOI:10.1017/S1462399403006598 PMID:12470181 著者 Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Haussler J, Ludolph AC, Hanemann CO タイトル X-linked bulbospinal neuronopathy: Kennedy disease. 雑誌 Arch Neurol 59:1921-6 (2002) DOI:10.1001/archneur.59.12.1921 PMID:12189162 著者 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 タイトル A mouse model of spinal and bulbar muscular atrophy. 雑誌 Hum Mol Genet 11:2103-11 (2002) DOI:10.1093/hmg/11.18.2103 PMID:12161529 著者 Dejager S, Bry-Gauillard H, Bruckert E, Eymard B, Salachas F, LeGuern E, Tardieu S, Chadarevian R, Giral P, Turpin G タイトル A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. 雑誌 J Clin Endocrinol Metab 87:3893-901 (2002) DOI:10.1210/jcem.87.8.8780 PMID:2062380 著者 La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH タイトル Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. 雑誌 Nature 352:77-9 (1991) DOI:10.1038/352077a0 PMID:1449253 著者 Doyu M, Sobue G, Mukai E, Kachi T, Yasuda T, Mitsuma T, Takahashi A タイトル Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. 雑誌 Ann Neurol 32:707-10 (1992) DOI:10.1002/ana.410320517 PMID:1303283 著者 La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH タイトル Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. 雑誌 Nat Genet 2:301-4 (1992) DOI:10.1038/ng1292-301 |