Amyotrophic Lateral Sclerosis: Clinicopathological Studies of a Family

Twenty-one members of a family through four generations have experienced a syndrome similar to amyotrophic lateral sclerosis, with additional features of sensory loss and prolonged course. Five patients were examined, two of whom had glove and stocking distribution of sensory impairment. Autopsy on one showed demyelination and gliosis in the spinocerebellar tracts and in Goll's tracts of the posterior columns in addition to similar changes and loss of cells in the anterior horns. The average course lasted more than 11 years. Two other cases presented as progressive muscular atrophy without signs of spasticity. All other cases consistently began with leg weakness, followed by arm and bulbar weakness, with signs of both upper and motor neuron degeneration. The mode of transmission was autosomal dominant with complete penetrance.