Review Abstract


Amyotrophic lateral sclerosis

2017年10月5日 Nature Reviews Disease Primers Article number: 17071 (2017) doi: 10.1038/nrdp.2017.71



筋萎縮性側索硬化症(ALS)の症状には、上位運動ニューロンおよび下位運動ニューロンの障害による兆候が含まれる。このPrimeView では、HardimanらのPrimerの内容にそって、主にALSの症状や診断精密検査について取りまとめる。

Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and eventual paralysis. Until recently, ALS was classified primarily within the neuromuscular domain, although new imaging and neuropathological data have indicated the involvement of the non-motor neuraxis in disease pathology. In most patients, the mechanisms underlying the development of ALS are poorly understood, although a subset of patients have familial disease and harbour mutations in genes that have various roles in neuronal function. Two possible disease-modifying therapies that can slow disease progression are available for ALS, but patient management is largely mediated by symptomatic therapies, such as the use of muscle relaxants for spasticity and speech therapy for dysarthria.