TANK-binding kinase 1 mutations and amyotrophic lateral sclerosis / 中华神经科杂志

ABSTRACT

Amyotrophic lateral sclerosis (ALS) is an cruel,adult-onset neurodegenerative disorder affecting upper and lower motor neurons,resulting in progressive muscle weakness and finally death by respiratory failure.Its pathophysiology is unclear.In recent years,availability of next-generation sequencing techniques has led to the discovery of several new ALS genes,greatly improving our knowledge about basic mechanisms involved in ALS pathogenesis.The TANK-binding kinase 1 (TBK1) gene has recently been identified as a novel causative gene of ALS.In this review,we focus on the frequency and characteristics of the TBK1 gene variants,clinical features and pathological feature of patients with TBK 1 gene mutations and the role of TBK1 gene in the pathophysiology of ALS.