Progress in research on biomarkers for amyotrophic lateral sclerosis / 西安交通大学学报(医学版)

ABSTRACT

Amyotrophic lateral sclerosis （ALS） is a neurodegenerative disease with the degeneration of the upper motor neuron （UMN） in the motor cortex， the lower motor neuron （LMN） in the brain stem and spinal cord， which leads to progressive muscle weakness and atrophy. Patients eventually die of respiratory failure， and the survival period of most patients is less than 5 years. At present， the diagnosis of ALS is mainly based on the history， clinical manifestations and electrophysiology. The auxiliary examination is only used to exclude other diseases with similar clinical manifestations. The study of genetics and biomarkers provides an objective reference for the early diagnosis， progress and prognosis evaluation of ALS. This paper mainly introduces the latest progress in research on ALS-related markers in biological field. The discovery of special genetic markers can help to diagnose the disease and evaluate the therapeutic effect of individuals； the identification of molecular biology markers has certain value for the diagnosis and differential diagnosis of diseases， while metabolic markers have certain reference value for the progress of diseases. At the same time， this paper summarizes future research on some prospective biomarkers to be further studied and the direction of their clinical application.