Medical research

Scientists solve mystery of nerve disease genes

For several years, scientists have been pondering a question about a genetic disease called Charcot-Marie-Tooth (CMT) disease type 2D: how can different types of mutations, spread out across a gene, produce the same condition?

Neuroscience

How a highly unstable protein may lead to neurodegeneration

EPFL scientists have reproduced key features of pathological protein aggregates found in the brain of patients with Lou Gehrig's disease and other neurological diseases, providing insight into the underlying mechanism and ...

Genetics

Autoimmune diseases in ALS patients linked to genetic mutation

A study published today in the journal Nature could help explain why certain people who develop amyotrophic lateral sclerosis (ALS), a deadly neurological disorder also known as Lou Gehrig's disease, are prone to autoimmune ...

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Amyotrophic lateral sclerosis (ALS), also referred to as Lou Gehrig's disease in American English and Motor Neurone Disease in British English, is a form of Motor Neuron Disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input. The condition is often called Lou Gehrig's disease in North America, after the New York Yankees baseball player who was diagnosed with the disease in 1939. The disorder is characterized by rapidly progressive weakness, muscle atrophy and fasciculations, spasticity, dysarthria, dysphagia, and respiratory compromise. Sensory function generally is spared, as is autonomic and oculomotor activity. ALS is a progressive, fatal, neurodegenerative disease with most affected patients dying of respiratory compromise and pneumonia after 2 to 3 years; although some perish within a year from the onset of symptoms, and occasional individuals have a more indolent course and survive for many years.

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