The challenge of amyotrophic lateral sclerosis descriptive epidemiology: to estimate low incidence rates across complex phenotypes in different geographic areas

Abstract

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.

Amyotrophic Lateral Sclerosis—The Complex Phenotype—From an Epidemiological Perspective: A Focus on Extrapyramidal and Non-Motor Features

“…Future population-based studies should focus on evaluating the prevalence and characteristics of other non-motor symptoms, such as sleep disturbances, in people with ALS. Epidemiological research is essential to provide new data on non-motor and extrapyramidal features in ALS and to improve policy-making in public health intervention [ 41 , 42 ].…”

A store-and-forward cloud-based telemonitoring system for automatic assessing dysarthria evolution in neurological diseases from video-recording analysis

“…The progressive accumulation of disability that characterizes most neurological diseases often prevents adequate therapeutic and care continuity. As a consequence, discontinuity in care may generate serious conditions of social distress involving an increasing number of individuals, families and caregivers [56,57].…”

Crosstalk between Oxidative Stress and Inflammation Caused by Noise and Air Pollution—Implications for Neurodegenerative Diseases

“…ALS patients suffer from muscle wasting, weakness, and paralysis, leading to death by respiratory failure [ 47 ]. ALS is relatively rare in comparison with AD and PD, with incidence rate of 10–15 cases per 100,000 capita [ 48 ]. The progression of ALS is rapid, with death occurring 2–3 years after diagnosis [ 49 ].…”