Synonyms
Charcot’s disease; amyotrophic lateral sclerosis; myatrophic lateral sclerosis; Lou Gehrig’s syndrome; motor neuron disease; abb. ALS
Definition
Amyotrophic lateral sclerosis is a progressive, degenerative disease of the nerve cells that control the muscles (motor neurons), which can lead to spastic as well as flaccid paralysis in the entire body. Due to the breathing and swallowing muscles involved in the course of the disease, patients usually die of pneumonia or lack of oxygen after years of progression of amotrophic lateral sclerosis. The frequency of amyotrophic lateral sclerosis is comparatively rare.
There are about 3 to 8 new cases per 100,000 inhabitants in Germany every year. Men are affected 50% more frequently than women and the most frequent period of illness is between the ages of 50 and 70. Earlier onset is rarely observed.
History
In the second half of the 19th century, the French neurologist Jean-Marie Charcot (1825-1893) was the first to describe the picture of amyotrophic lateral sclerosis, as well as several other neurological diseases. Many individual signs of the disease bear his surname, just as amyotrophic lateral sclerosis can also be described as Charcot’s disease. The disease became known in the 20th century mainly through the successful and popular baseball player Lou Gehrig (1903-1941) who had to end his career in 1938 due to unclear muscle weakness and was diagnosed with the disease the following year. Amyotrophic lateral sclerosis was also called Lou Gehrig syndrome after him. Another popular ALS patient is Stephen Hawking, in whom the disease untypically started in his youth and is milder in its course than in the majority of patients.
Causes
The exact cause of the progressive destruction of motor neurons is not known (amyotrophic lateral sclerosis). Oxidative stress for the nerve cells has been discussed as a possible trigger, since a gene mutation of an enzyme that protects against oxidative stress (superoxide dismutase; SOD-1) is found in almost 10% of those affected. This was supported by a slightly increased risk of disease in smokers whose bodies are more exposed to oxidative stress.
However, it was found that the functional efficiency of the enzyme has no influence on the disease, but the faulty spatial structure of the enzyme does, which favours the attachment of many individual such enzymes. This aggregation disrupts the cellular functions of the affected nerve cells and is similar in its mechanism to that of bovine spongiform encephalopathy (BSE) or Alzheimer’s disease. It is not yet known why only motor neurones are affected. Amongst other things, further gene loci are known for a rare, familial form of amyotrophic lateral sclerosis, whose mutation is associated with an increased incidence of the disease.
