Amyotrophic Lateral Sclerosis: Recent Considerations for Diagnosis, Pathogenesis and Therapy

Dear Colleagues,

Amyotrophic lateral sclerosis (ALS/MND) is a unique type of human neurodegeneration disease characterised by various phenotypes, including frontotemporal dementia. These are predicated by genetic, environmental, lifestyle and epigenetic influences. However, no naturally occurring or induced animal models truly recapitulate this human disease. ALS has a preclinical period of variable length, likely extending to years or decades, and at clinical onset, the cellular cascades associated with neuronal death are irreversible. Therefore, there is a need for biomarkers to identify preclinical disease. C9ORF72, SOD1, FUS and TARDBP are causative genes accounting for <10% of ALS, and the identification of “risk genes” (>70) contributing to sporadic ALS in association with environmental and lifestyle factors is necessary. Epigenetic modification fine-tunes gene expression in response to the environment, and epigenetic profile alterations may occur in the offspring of exposed individuals with intergenerational inheritance. Extra-nuclear aggregation of TDP-43 is a hallmark of ALS, and evidence indicates that it spreads cortico-fugally, intricately related to the corticomotoneuronal system, suggesting that ALS is a primary brain disease. ALS is increasingly studied using patient-derived iPSCs to investigate early stages of the disease, model risk factors, apply gene editing using CRISPR and explore new therapies.

Prof. Dr. Andrew Eisen
Guest Editor

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• amyotrophic lateral sclerosis
• genes
• environment
• epigenome
• TDP-43
• phenotypes