Inclusion body myositis: from genetics to clinical trials

被引：11

作者：

Nagy, Sara ^{[1
,2
]}

Khan, Alaa ^{[1
,3
]}

Machado, Pedro M. ^{[2
,4
]}

Houlden, Henry ^{[1
]}

机构：

[1] UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, London, England

[2] Univ Basel, Univ Hosp Basel, Dept Neurol, Basel, Switzerland

[3] King Abdullah Med City Makkah, Mol Diagnost Unit, Clin Lab Dept, Mecca, Saudi Arabia

[4] UCL, Ctr Rheumatol, Div Med, London, England

来源：

JOURNAL OF NEUROLOGY | 2023年 / 270卷 / 03期

关键词：

Sporadic inclusion body myositis; Hereditary inclusion body myositis; Genetic susceptibility; Inflammation; Neurodegeneration; Clinical trials; Gene therapy; RIMMED VACUOLES; DOUBLE-BLIND; RISK LOCI; MYOPATHY; MITOCHONDRIAL; ASSOCIATION; BIMAGRUMAB; EFFICACY; REVEALS; SAFETY;

D O I：

10.1007/s00415-022-11459-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with asymmetric muscle weakness of predominantly the finger flexors and knee extensors. The disease leads to severe disability and most patients lose ambulation due to lack of curative or disease-modifying treatment options. Despite some genes reported to be associated with hereditary IBM (a distinct group of conditions), data on the genetic susceptibility of sporadic IBM are very limited. This review gives an overview of the disease and focuses on the current genetic knowledge and potential therapeutic implications.

引用

页码：1787 / 1797

页数：11

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