INFANTILE ONSET OF HEREDITARY ASCENDING SPASTIC PARALYSIS WITH BULBARINVOLVEMENT

Primary lateral sclerosis and hereditary spastic paraparesis are both rare neurodegenerative disorders characterized by progressive weakness and spasticity of the lower limbs, with involvement of the corticospi nal tracts and sparing of anterior horn cells. We describe a consangui neous family in which three sons developed progressive paralysis of th e lower extremities in infancy with subsequent involvement of the uppe r extremities and bulbar muscles but cognitive sparing. This family pr esents the nosologic difficulty of distinguishing between hereditary s pastic paraparesis and primary lateral sclerosis. We suggest that the diagnosis in this family is hereditary primary lateral sclerosis. This is the first instance of familial occurrence of primary lateral scler osis.