26 Oct 2013/
Amyotrophic Lateral Sclerosis (ALS), also known as Motor Neuron Disease is a degenerative disease of the specific population of cells in the brain and spinal cord that coordinate muscle movements. ALS results in progressive muscle weakness, muscle wasting, stiffness and cramping, and eventually difficulty in speech and swallowing. This disease was first described in 1869 by the French physician Jean-Martin Charcot. ALS is also called Lou Gehrig’s disease after the name of a hall-of-fame baseball player for the New York Yankees who was diagnosed with ALS in the 1930s.
The underlying cause of the disease in the majority of patients is unknown. The existing consensus points to an interplay of genetic and environmental factors that impair the ability of the vulnerable nerve cell populations to detoxify certain forms of molecules derived from oxygen (termed reactive oxygen species). These toxic molecules affect the activity of a broad range of cellular proteins, some which are required for normal neuronal function and survival. An imbalance in nerve cell energy production and diminished trophic support are also considered to play a role. One rare type of familial ALS results from a small change in the DNA of a gene that encodes a protein known as copper-zinc superoxide dismutase (SOD1) in patients. Treatment strategies to correct one or more of the defects mentioned above are currently being evaluated in clinical trials.
Find out about the latest research in ALS here.
ALS results in dysfunction and demise of motor neurons. Note the normal structure of motor neuron, the nerve fibre which transmit electrical impulse to the muscle for contraction and architecture of healthy muscle fibers (Left). As the disease progresses, increasing number of motor neurons are affected which leads to retraction and disintegration of nerve fibers and consequent wasting of muscle fibers (Right).