Researchers have discovered a genetic mutation associated with this typical motor neuron disease or amyotrophic lateral sclerosis, which has a pathological effect similar to certain genetic mutations have shown in previous studies. Ultimately, researchers hope that understanding what causes motor neuron disease (MND) will lead to new ways of treatment.
MDN is a progressive neurodegenerative disease that attacks the upper and lower motor neurons. The degeneration of motor neurons causes weakness and atrophy of muscles, causing increasing loss of mobility in the limbs, difficulty speaking, swallowing and breathing.
The new research, published today in the journal Proceedings of the National Academy of Sciences and conducted by researchers from Imperial College London, provides strong additional evidence that genetics is a disease caused by the protein reconstituted in motor neurons, cells that help control muscle movement.