Many neurodegenerative disorders, including Parkinson's, Alzheimer's, and amyotrophic lateral sclerosis, are well known to involve the accumulation of disease-specific proteins. Less well known are the accumulations of another set of proteins, neuronal intermediate filaments (NFs), which have been observed in these diseases for decades. NFs belong to the family of cytoskeletal intermediate filament proteins (IFs) that give cells their shape; they determine axonal caliber, which controls signal conduction; and they regulate the transport of synaptic vesicles and modulate synaptic plasticity by binding to neurotransmitter receptors. In the last two decades, a number of rare disorders caused by mutations in genes that encode NFs or regulate their metabolism have been discovered. These less prevalent disorders are providing novel insights into the role of NF aggregation in the more common neurological disorders.

中文翻译：

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神经丝聚集在神经退行性疾病中的作用：来自罕见遗传性神经系统疾病的教训。

众所周知，许多神经退行性疾病，包括帕金森氏症、阿尔茨海默氏症和肌萎缩侧索硬化症，都与疾病特异性蛋白质的积累有关。鲜为人知的是另一组蛋白质的积累，即神经元中间丝 (NFs)，几十年来一直在这些疾病中观察到这些蛋白质。NFs 属于细胞骨架中间丝蛋白 (IFs) 家族，它赋予细胞形状；它们决定轴突口径，控制信号传导；它们通过与神经递质受体结合来调节突触小泡的运输并调节突触可塑性。在过去的二十年中，已经发现了许多由编码 NF 或调节其代谢的基因突变引起的罕见疾病。