球脊髄性筋萎縮症：これからの治療
「はじめに」近年, 神経変性疾患の病態の理解が分子レベルで進んでおり, 変性病態を阻止する疾患修飾療法(disease modifying therapy)のトランスレーショナルリサーチが進んでいる. 同時に, こうした疾患における臨床症状の発症前の病態について, バイオマーカーを用いた研究が進められている. 本稿では, 球脊髄性筋萎縮症の疾患修飾療法開発の経緯と, 発症前病態について概説する. 「I. 球脊髄性筋萎縮症(SBMA)とは」球脊髄性筋萎縮症(spinal and bulbar muscular atrophy:SBMA)は脊髄・脳幹の下位運動ニューロンと骨格筋とが変性する遺伝性疾...
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| Published in | 神経治療学 Vol. 35; no. 4; pp. 427 - 431 |
|---|---|
| Main Authors | , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経治療学会
2018
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0916-8443 2189-7824 |
| DOI | 10.15082/jsnt.35.4_427 |
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| Abstract | 「はじめに」近年, 神経変性疾患の病態の理解が分子レベルで進んでおり, 変性病態を阻止する疾患修飾療法(disease modifying therapy)のトランスレーショナルリサーチが進んでいる. 同時に, こうした疾患における臨床症状の発症前の病態について, バイオマーカーを用いた研究が進められている. 本稿では, 球脊髄性筋萎縮症の疾患修飾療法開発の経緯と, 発症前病態について概説する. 「I. 球脊髄性筋萎縮症(SBMA)とは」球脊髄性筋萎縮症(spinal and bulbar muscular atrophy:SBMA)は脊髄・脳幹の下位運動ニューロンと骨格筋とが変性する遺伝性疾患であり, 緩徐進行性で成人男性にのみ発症する. 我が国の有病率は人口10万人あたり1～2人(患者数2000人程度)と推定されており, 人種や地域による有病率の差は明らかではない. |
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| AbstractList | 「はじめに」近年, 神経変性疾患の病態の理解が分子レベルで進んでおり, 変性病態を阻止する疾患修飾療法(disease modifying therapy)のトランスレーショナルリサーチが進んでいる. 同時に, こうした疾患における臨床症状の発症前の病態について, バイオマーカーを用いた研究が進められている. 本稿では, 球脊髄性筋萎縮症の疾患修飾療法開発の経緯と, 発症前病態について概説する. 「I. 球脊髄性筋萎縮症(SBMA)とは」球脊髄性筋萎縮症(spinal and bulbar muscular atrophy:SBMA)は脊髄・脳幹の下位運動ニューロンと骨格筋とが変性する遺伝性疾患であり, 緩徐進行性で成人男性にのみ発症する. 我が国の有病率は人口10万人あたり1～2人(患者数2000人程度)と推定されており, 人種や地域による有病率の差は明らかではない. |
| Author | 祖父江, 元 勝野, 雅央 土方, 靖浩 橋詰, 淳 |
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| DOI | 10.15082/jsnt.35.4_427 |
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| References | 3) Atsuta N, Watanabe H, Ito M et al : Natural history of spinal and bulbar muscular atrophy (SBMA) : a study of 223 Japanese patients. Brain 129 : 1446–1455, 2006 15) Jacobi H, Reetz K, du Montcel ST et al : Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study : analysis of baseline data. Lancet Neurol 12 : 650–658, 2013 8) La Spada AR, Wilson EM, Lubahn DB et al : Androgen receptor gene mutations in X–linked spinal and bulbar muscular atrophy. Nature 352 : 77–79, 1991 5) Araki A, Katsuno M, Suzuki K et al : Brugada syndrome in spinal and bulbar muscular atrophy. Neurology 82 : 1813–1821, 2014 6) Banno H, Katsuno M, Suzuki K et al : Swallowing markers in spinal and bulbar muscular atrophy. Ann Clin Transl Neurol 4 : 534–543, 2017 10) Katsuno M, Adachi H, Doyu M et al : Leuprorelin rescues polyglutamine–dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat Med 9 : 768–773, 2003 14) Tabrizi SJ, Reilmann R, Roos RA et al : Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK–HD study : analysis of 24 month observational data. Lancet Neurol 11 : 42–53, 2012 4) Hashizume A, Katsuno M, Banno H et al : Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy. Brain 135 : 2838–2848, 2012 17) Hijikata Y, Hashizume A, Yamada S et al : Biomarker–based analysis of preclinical progression in spinal and bulbar muscular atrophy. Neurology [in press] 11) Banno H, Katsuno M, Suzuki K et al : Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Ann Neurol 65 : 140–150, 2009 13) Katsuno M, Banno H, Suzuki K et al : Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study) : a multicentre, randomised, double–blind, placebo–controlled trial. Lancet Neurol 9 : 875–884, 2010 2) Kennedy WR, Alter M, Sung JH : Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex–linked recessive trait. Neurology 18 : 671–680, 1968 1) 川原 汎：進行性延髄麻痺ノ血族的発生ノ一例．愛知医学会雑誌 16 : 3, 1897 12) Hashizume A, Katsuno M, Suzuki K et al : Long–term treatment with leuprorelin for spinal and bulbar muscular atrophy : Natural history–controlled study. J Neurol Neurosurg Psychiatry 88 : 1026–1032, 2017 18) Hijikata Y, Katsuno M, Suzuki K et al : Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy. Ann Clin Transl Neurol 3 : 537–546, 2016 7) Sobue G, Hashizume Y, Mukai E et al : X–linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 112 : 209–232, 1989 9) Doyu M, Sobue G, Mukai E et al : Severity of X–linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 32 : 707–710, 1992 16) Rosas HD, Doros G, Gevorkian S et al : PRECREST : a phase II prevention and biomarker trial of creatine in at–risk Huntington disease. Neurology 82 : 850–857, 2014 |
| References_xml | – reference: 5) Araki A, Katsuno M, Suzuki K et al : Brugada syndrome in spinal and bulbar muscular atrophy. Neurology 82 : 1813–1821, 2014 – reference: 7) Sobue G, Hashizume Y, Mukai E et al : X–linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 112 : 209–232, 1989 – reference: 14) Tabrizi SJ, Reilmann R, Roos RA et al : Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK–HD study : analysis of 24 month observational data. Lancet Neurol 11 : 42–53, 2012 – reference: 18) Hijikata Y, Katsuno M, Suzuki K et al : Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy. Ann Clin Transl Neurol 3 : 537–546, 2016 – reference: 13) Katsuno M, Banno H, Suzuki K et al : Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study) : a multicentre, randomised, double–blind, placebo–controlled trial. Lancet Neurol 9 : 875–884, 2010 – reference: 15) Jacobi H, Reetz K, du Montcel ST et al : Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study : analysis of baseline data. Lancet Neurol 12 : 650–658, 2013 – reference: 11) Banno H, Katsuno M, Suzuki K et al : Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Ann Neurol 65 : 140–150, 2009 – reference: 10) Katsuno M, Adachi H, Doyu M et al : Leuprorelin rescues polyglutamine–dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat Med 9 : 768–773, 2003 – reference: 9) Doyu M, Sobue G, Mukai E et al : Severity of X–linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 32 : 707–710, 1992 – reference: 17) Hijikata Y, Hashizume A, Yamada S et al : Biomarker–based analysis of preclinical progression in spinal and bulbar muscular atrophy. Neurology [in press] – reference: 16) Rosas HD, Doros G, Gevorkian S et al : PRECREST : a phase II prevention and biomarker trial of creatine in at–risk Huntington disease. Neurology 82 : 850–857, 2014 – reference: 4) Hashizume A, Katsuno M, Banno H et al : Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy. Brain 135 : 2838–2848, 2012 – reference: 8) La Spada AR, Wilson EM, Lubahn DB et al : Androgen receptor gene mutations in X–linked spinal and bulbar muscular atrophy. Nature 352 : 77–79, 1991 – reference: 1) 川原 汎：進行性延髄麻痺ノ血族的発生ノ一例．愛知医学会雑誌 16 : 3, 1897 – reference: 2) Kennedy WR, Alter M, Sung JH : Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex–linked recessive trait. Neurology 18 : 671–680, 1968 – reference: 3) Atsuta N, Watanabe H, Ito M et al : Natural history of spinal and bulbar muscular atrophy (SBMA) : a study of 223 Japanese patients. Brain 129 : 1446–1455, 2006 – reference: 12) Hashizume A, Katsuno M, Suzuki K et al : Long–term treatment with leuprorelin for spinal and bulbar muscular atrophy : Natural history–controlled study. J Neurol Neurosurg Psychiatry 88 : 1026–1032, 2017 – reference: 6) Banno H, Katsuno M, Suzuki K et al : Swallowing markers in spinal and bulbar muscular atrophy. Ann Clin Transl Neurol 4 : 534–543, 2017 |
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| Title | 球脊髄性筋萎縮症：これからの治療 |
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