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- W2883910367 abstract "Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of the corticomotorneuronal network responsible for voluntary movement. There are well-established clinical, genetic and pathological overlaps between ALS and frontotemporal dementia (FTD), which together constitute the 'TDP-43 proteinopathies'. An ever-expanding list of genes in which mutation leads to typical ALS have implicated abnormalities in RNA processing, protein homoeostasis and axonal transport. How these apparently distinct pathways converge to cause the characteristic clinical syndrome of ALS remains unclear. Although there are major gaps in our understanding of the essential nature of ALS pathophysiology, the identification of genetic causes in up to 15% of ALS patients, coupled with advances in biotechnology and biomarker research provide a foundation for approaches to treatment based on 'precision medicine', and even prevention of the disease in pre-symptomatic mutation carriers in the future. Currently, multidisciplinary care remains the bedrock of management and this is increasingly being put onto an evidence-based footing." @default.
- W2883910367 created "2018-08-03" @default.
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- W2883910367 date "2018-07-27" @default.
- W2883910367 modified "2023-09-30" @default.
- W2883910367 title "Amyotrophic lateral sclerosis: the complex path to precision medicine" @default.
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- W2883910367 doi "https://doi.org/10.1007/s00415-018-8983-8" @default.
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