[Huntington chorea. Anatomoclinical and genetic study of 17 cases]

Abstract

Seventeen cases of Huntington's chorea have been studied on a clinical and anatomopathological basis. Fourteen genealogical trees have been established. Clinically, involuntary movements of choreic type and an impairment of higher brain functions are constant symptoms. Gait disorders, dysarthria and a tendinous hyperreflexia are usual (present in 95, 95 and 80% of cases). Anorexia, muscular hypotony and dysphagia are also frequent (present in 75, 60 and 50% of cases). The neuropathological examination shows macroscopically a neostriatal atrophy in 90% of cases and a cerebral cortical atrophy in 75%. Microscopically, a neuronal loss--mainly in small cells (Golgi II)--is evident in the neostriatum of all the cases. The pallidum is also affected, but to a lesser degree. A cortical cell loss is present in 90% of the cases, mainly in layers III, IV, V and sometimes also in layer VI of frontal and parietal lobes. In 75% of the cases, a cortical gliosis is noticed, mostly at the level of the frontal pole.