Amyotrophic lateral sclerosis. Insights from genetics
R. H. Brown Jr
Day Neuromuscular Research Laboratory, Massachusetts General Hospital-East, Charlestown, USA. Brown@helix.mgh.harvard.edu
Amyotrophic lateral sclerosis (ALS) is among the most dire neurological
diseases. The essential clinical feature of the disorder is relentless,
lethal paralysis, usually beginning in midadult years. The disease is
caused by a slow, progressive loss of motor neurons in the brain and spinal
cord. It usually begins focally and then spreads. In most cases, there is
concurrent involvement of corticospinal (upper) and spinal (lower) motor
neurons, although in some instances the spinal motor neuron features
predominate. Involvement of the spinal motor neurons produces muscle
denervation of the affected muscles and fasciculations, followed by muscle
atrophy. When corticospinal motor neurons degenerate, the weakness is
accompanied by spasticity. The mean age at onset of ALS is 55 years; the
mean duration is about 4 years. The incidence of new cases is approximately
1 per 100,000 population. The total number of cases is about 5 per 100,000
population. In the United States, it is estimated that there are 20,000 to
30,000 cases. About 10% of cases are inherited as an autosomal dominant
trait; familial and sporadic ALS are clinically indistinguishable.
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