Purpose of review: Amyotrophic lateral sclerosis (ALS) is the most common and most aggressive form of adult onset motor neuron degeneration. Despite intensive research, riluzole remains the only drug with proven efficacy. The cause and pathogenesis of the motor neuron degeneration in ALS appears to be a complex and multifactorial process. In this study, we review recent advances in our understanding of the molecular basis of sporadic and familial forms of ALS and improvements in the treatment of ALS patients.
Recent findings: The discovery of mutations in the DNA/RNA-binding proteins transactive response DNA-binding protein 43 (TDP-43) and fused in sarcoma in familial ALS and the cytosolic sequestration of TDP-43 occurring in sporadic ALS opens new avenues in ALS research and suggests that altered RNA processing may be involved in the disease pathogenesis. The survival of ALS patients continues to increase most likely due to noninvasive respiratory ventilation, early percutaneous endoscopic gastrostomy and multidisciplinary care in ALS clinics.
Summary: Recent insights in the pathology and genetics of ALS have improved our understanding of motor neuron degeneration and will hopefully lead to novel treatment strategies in ALS. Awaiting these, the beneficial effect of multidisciplinary care of ALS patients on survival and quality of life has become clear.