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Amyotrophic lateral sclerosis (ALS) is a devastating disease with poorly understood causes and no known cure. But research is slowly beginning to bring hope to those affected. This Outlook discusses topics such as: how genetic and epidemiological research are beginning to reveal the secrets of ALS; new drugs and other treatments that are finally becoming available; and the lessons that the ALS Ice Bucket Challenge offers for funding disease research.
This Nature Outlook is editorially independent. It is produced with third party financial support. About this content.
An expanded repetition of a DNA sequence within the C9orf72 gene is the most common genetic cause for motor neuron disease and frontotemporal dementia. In this study, the authors show that this expansion causes increased genomic breaks and reduces the cell's ability to repair the breaks, ultimately leading to neuronal cell death.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting upper and lower motor neurons. Here, the authors outline previous and current efforts to characterize genes that are associated with ALS, and describe what is currently known about the genetic architecture of ALS.
Pathogenesis for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) remains largely unknown. Using a mouse model of ALS and FTD, the authors found that somatostatin interneurons in motor cortex were hyperactive. This hyperactivity led to the disinhibition of pyramidal neurons and correlated with signs of excitotoxicity. Ablating somatostatin interneurons restored the excitability of pyramidal cells to a normal level and prevented neurodegeneration.
Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of both upper and lower motor neurons, which leads to progressive muscle weakness and paralysis. This Primer by Hardiman and colleagues provides a detailed overview of the epidemiology, pathophysiology and diagnosis of ALS, and discusses the management of both the motor and non-motor symptoms of this condition.
The symptoms of amyotrophic lateral sclerosis (ALS) include signs of upper motor neuron and lower motor neuron dysfunction. These symptoms, and the diagnostic work-up for ALS, are the main focus of this PrimeView, which accompanies the Primer by Hardiman and colleagues.
The RNA for ALS- and frontotemporal dementia-associated C9ORF72 gene is exported from nucleus via an unknown mechanism. This study shows that reduction of nuclear export adaptor SRSF1 can alleviate neuronal cell death and nuclear export of C9ORF72 inDrosophilaand patient-derived induced motor neurons.
Accumulation of misfolded protein in neurons is a common feature of many neurodegenerative diseases. In this Review, Hetz and Saxena discuss the latest advances in our understanding about the mechanisms by which protein misfolding causes neurodegeneration, and look at novel insights into the role of cellular responses to protein misfolding in synaptic function and in inflammatory and mechanical injury in the nervous system.