Tau Accumulation and Defective Autophagy:A Common Pathological Mechanism Underlying Repeat-Expansion-Induced Neurodegenerative Diseases?

• 来源期刊: 神经科学通报（英文版）
• 年，卷（期）: 2020,（12）
• 所属期刊栏目: Editorial
• 页码范围: 1411-1413
• 页数: 3页
• 语种: 英文

摘要

Repetitive DNA tracts(microsatellites)occur thousands of times throughout the human genome,and their expansion is known to cause many diseases.Expansion of CAG repeats encoding polyglutamine(polyQ)tracts is a pathological cause of nine neurodegenerative diseases:spinal and bulbar muscular atrophy,Huntington's disease,dentatorubropal-lidoluysian atrophy,and six autosomal dominant forms of spinocerebellar ataxia(SCA1,2,3,6,7,and 17)[1].In 2011,two independent groups found an intronic GGGGCC(G4C2)expansion mutant in C9orf12 as the most common genetic cause of both amyotrophic lateral sclerosis(ALS)and frontotemporal dementia(FTD)[2,3].