Fibrosis as a common trait in amyotrophic lateral sclerosis tissues
Savina Apolloni
Nadia D'Ambrosi
Department of Biology,University of Rome Tor Vergata,Rome,Italy
摘要：Amyotrophic lateral sclerosis (ALS) is a highly aggressive adult-onset neurodegenerative disease caused by the progressive loss of upper and lower motor neurons. Clinically, it causes irreversible muscle atrophy and spasticity, leading to death due to respiratory failure, usually within 2–5 years after the first symptom onset. Approximately 85％ of ALS cases are classified as sporadic, while the remaining 15％ are of familial origin, but the overall clinical and molecular features of the disease are almost undistinguishable in the two forms. The majority of familial ALS cases are caused by pathogenic variants of C9orf72, SOD1, TARDBP, FUS, ANG and OPTN genes that are inherited by a Mendelian pattern and display high penetrance (Kiernan et al., 2020).
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论文发表日期：2022-01-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：2( 97-98 )