Amyotrophic Lateral Sclerosis: The Quest to Define Pre-symptomatic Disease and Move toward Prevention

Dear Colleagues,

Amyotrophic lateral sclerosis (ALS) is a devastating, progressive neurodegenerative disease defined by a wide spectrum of phenotypes, even among family members harboring the same causative mutation. ALS heterogeneity and disease risk are likely mitigated by a complex interplay of a growing number of genetic and environmental factors, the pathways of which may represent key potential interventions relevant to the prevention of both familial and sporadic ALS. We are also just beginning to understand the biological changes that define the prodromal period in familial ALS, before symptoms arise. Leading biofluid and imaging markers of disease progression in people with ALS show promise in characterizing biological disease onset in pre-symptomatic ALS gene carriers and may even help in promoting early diagnosis in sporadic ALS. Effective methods to identify and monitor early signs of ALS likely differ in their sensitivity to detect subtle symptoms from traditional outcome measures. Finally, natural history studies following pre-symptomatic ALS gene carriers through the point of symptom conversion may hold the key to characterizing these biofluid markers and early outcomes needed for the design of both early ALS and prevention trials.

This Special Issue of Brain Sciences, “Amyotrophic Lateral Sclerosis: The Quest to Define Pre-symptomatic Disease and Move toward Prevention,” aims to bring together cutting-edge ideas and novel research topics related to the identification of novel genetic and environmental modifiers in ALS, discovery of biological markers, and clinical measures of disease conversion, and the design and conduct of future prevention and early onset trials in ALS and will comprise a selection of research papers and reviews.

Prof. Dr. Merit E. Cudkowicz
Dr. Katharine Nicholson
Guest Editors

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• amyotrophic lateral sclerosis (ALS)
• genetic modifiers
• environmental risk factors
• pre-symptomatic
• markers of ALS disease onset
• disease prevention
• early diagnosis