[Gerstmann-Sträussler-Scheinker disease. Anatomoclinical and genealogical study].

The patient has been examined clinically and his brain examined. Four related patients are known by hospital records, and two others by history. The mode of transmission is compatible with a mendelian autosomic dominant mechanism through three generations, but the line appears to be broken at the further ascending generation with both parents dying too old to be affected. The disease begins in the early thirties, with tremor and frequent falls; intellectual impairment is soon obvious. Later on, the patients are demented, unruly; a marked dysarthria and severe intention and opposition tremor in the trunk and the extremities are present. Midline reflexes are brisk, other reflexes are normal, a Babinski response is not obtained. Laboratory and E.E.G. data are non contributive. At a terminal stage, the patient is bedridden, cachectic, with extensor hypertonia of the lower extremities and flexor hypertonia of the upper extremities. Total course is about seven years. Neuropathological findings in the propositus were almost entirely restricted to the cerebellar cortex, the molecular layer of which is moderately atrophic and gliotic, and contains numerous plaque-like formations without neuritic component, but differing from kuru plaques by the absence of amyloid characteristics. The condition may be nevertheless ascribed to Gerstmann-Sträussler-Scheinker disease, understood as a provisional clinicopathology group, pending further transmission experiments.