Motor neuron diseases like Amyotrophic Lateral
Sclerosis (ALS) and Spinal Muscular Atrophy
(SMA) are typified by the degeneration of alpha motor neurons that subsequently
lead to muscle atrophy. Characteristic of ALS is the degeneration of upper
and lower motor neurons, initiating in mild adult life and almost invariably
progressing to paralysis and death over a 1-5 year time course. SMA is the
second most frequent recessive autosomal disorder, and the most common genetic
cause of death in childhood.
Our laboratory is specialized on functional
studies of ALS and SMA mouse models by combining
electrophysiological, high resolution imaging and molecular biology techniques.
The knowledge of the genetic basis of ALS and SMA, together with a better
understanding of the pathophysiology of these diseases may be of importance
for designing efficient therapeutic protocols in the future.
