期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 4, 期 7, 页码 522-530出版社
WILEY
DOI: 10.1002/acn3.423
关键词
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资金
- Cure SMA/Families of SMA Canada
- Muscular Dystrophy Association (USA) [294568]
- Canadian Institutes of Health Research (CIHR) [MOP-130279]
- E-Rare-2 program from the CIHR [ERL-138414]
- Frederick Banting and Charles Best CIHR Doctoral Research Award
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by motor neuron degeneration, although defects in multiple cell types and tissues have also been implicated. Three independent laboratories recently identified immune organ defects in SMA. We therefore propose a novel pathogenic mechanism contributory to SMA, resulting in higher susceptibility to infection and exacerbated disease progression caused by neuroinflammation. Overall, compromised immune function could significantly affect survival and quality of life of SMA patients. We highlight the recent findings in immune organ defects, their potential consequences on patients, our understanding of neuroinflammation in SMA, and new research hypotheses in SMA pathogenesis.
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