TANK-binding kinase 1 mutations and amyotrophic lateral sclerosis / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 849-853, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-711036
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo prognóstico
Idioma:
Chinês
Revista:
Chinese Journal of Neurology
Ano de publicação:
2018
Tipo de documento:
Artigo
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