Purpose of review Amyotrophic lateral sclerosis (ALS) is a rare progressive neurodegenerative disease of motor neurons with a fatal outcome. The rareness of the disease and the rapidly fatal course are the main challenges for the ALS epidemiological research. The understanding of ALS has clearly advanced in the recent years both in the genetics and in the leading pathways of disease determinants. Epidemiological research has played a primary role in these discoveries.
Recent findingsEpidemiological studies have shown a variation of incidence, mortality and prevalence of ALS between geographical areas and different populations, supporting the notion that genetic factors, linked to populations ancestries, along with environmental and lifestyle factors, play a significant role in the occurrence of the disease. The burden of motor neuron diseases is increasing and currently more relevant in high-income countries but increasing at the highest rate in low and middle-income countries. The ALS phenotype is not restricted to motor functions. C9orf72 repeat expansion seems to present a recognizable phenotype characterized by earlier disease onset, the presence of cognitive and behavioural impairment.