Amyotrophic Lateral Sclerosis Research

Amyotrophic lateral sclerosis is a fatal neurodegenerative disease in which the motor neurons that control voluntary movement progressively die, typically leading to paralysis and death within a few years of diagnosis. Research has converged on a handful of molecular culprits—most prominently the RNA-binding proteins TDP-43 and FUS/TLS, which misfold and accumulate in toxic aggregates inside neurons, and a repeat expansion in the gene C9ORF72 that accounts for a substantial fraction of both familial ALS and the related dementia syndrome FTD. Understanding why these proteins abandon their normal roles in RNA processing and how deficiencies in factors like progranulin compound the damage remains an open and urgent question. A central challenge for the field is translating detailed knowledge of these mechanisms into therapies that can slow or halt neurodegeneration before too many motor neurons are irreversibly lost.

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Keywords

TDP-43FUS/TLSC9ORF72mutationsneurodegenerationmotor neurons