Myoclonus epilepsy as a symptom of diffuse neuronal disease.

Abstract

UNVERRICHT 1 and Lundborg 2 described a progressive familial syndrome of myoclonus epilepsy, the fully developed form of which was additionally characterized by progressive dementia, pseudobulbar paralysis, rigidity and, in the late stages, quadriplegia in flexion. Diverse types of pathological nerve cell change have been reported to occur in patients with this syndrome, 3 of which an excellent discussion was given by Hodskins and Yakovlev. 3e The striking feature of these reports is the description of diffuse neuronal disease, either diffuse primary atrophy or diffuse cellular changes characterized by cellular inclusions. Though descriptions of myoclonus epilepsy almost always refer to the curious dark-staining amyloid inclusions described by Lafora and Glueck, 3b this type of inclusions appears to be extremely rare. A more frequent finding has been the lipoidal inclusions characteristic of amaurotic familial idiocy. Juvenile amaurotic familial idiocy has been recognized as a distinct clinical type of lipidosis of the