A NEW FAMILIAL DISORDER PRESENTING WITH AMYOTROPHIC LATERAL SCLEROSIS-LIKE MANIFESTATION - A CLINICOPATHOLOGICAL STUDY

We studied a family in which three siblings had an identical clinical feature indistinguishable from familial amyotrophic lateral sclerosis (ALS), consisting of progressive generalized neurogenic muscular atrop hy with hyporeflexia and normal sensations beginning in the fourth dec ade. The duration of illness was about 4 years in all affected members . Autopsy of one patient revealed multiple foci of spongy degeneration in the white matter of the spinal cord, brain stem, cerebellum, and t he thalamus, characterized by vacuoles of various size, foamy macropha ges and degenerating swollen axons. These changes were most marked in the spinal cord, where there was neither pyramidal tract involvement n or neuronal loss in the anterior horn. The pathological findings were different from those of ALS. A similar disease affected the siblings' mother, suggesting an autosomal dominant inheritance. The disease in t he kindred, therefore, appears to be a unique hereditary disorder.