Journal
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
Volume 20, Issue 5-6, Pages 303-309Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/21678421.2019.1587634
Keywords
Pre-symptomatic; pre-manifest; prodromal; biomarkers
Categories
Funding
- Muscular Dystrophy Association [4365, 172123]
- Amyotrophic Lateral Sclerosis (ALS) Association
- ALS Recovery Fund
- Kimmelman Estate
- National Institutes of Health [R01 NS105479]
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Successful treatment of neurodegenerative disease may hinge on early therapeutic intervention. This requires an understanding of early/pre-symptomatic disease, a need that is underscored by advances in antisense oligonucleotide, and viral-vector-based gene therapies. In amyotrophic lateral sclerosis (ALS), the study of pre-symptomatic disease requires a cohesive conceptual framework for describing this phase of disease. Informed by the literature in other neurodegenerative diseases and extensive personal experience, a model is proposed that distinguishes ALS as a clinical syndrome from ALS as a disease, and characterizes pre-symptomatic ALS as having two identifiable stages: pre-manifest and prodromal. The unique and critical importance of biomarker development is articulated and an operational definition of phenoconversion is provided. It is hoped that this framework will accelerate collective efforts to study pre-symptomatic ALS, and aid in the design and implementation of an early intervention- or disease-prevention trial.
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