Therapy of amyotrophic lateral sclerosis remains a challenge

Abstract

Amyotrophic lateral sclerosis is a devastating fatal disease of motor neurons in the brain, brainstem, and spinal cord. It affects otherwise healthy people and can develop at any point in adulthood. Worldwide, more than 150 000 people die from the disease every year, on average 3 years after symptom onset. Laboratory and patient-oriented research during the past two decades has led to major improvements in our understanding of the pathogenesis of amyotrophic lateral sclerosis, including newly discovered genes, improved in-vitro and in-vivo modelling of the disease, generation of patient-derived motor neurons through induced pluripotent stem cell technology, the discovery of TDP43 protein aggregates in motor neurons, innovative imaging and whole-genome sequencing technology initiatives, the identification of endophenotypes, and the association of the disease with frontotemporal dementia.