FAMILIAL DEMENTIA WITH SWOLLEN ACHROMATIC NEURONS AND CORTICOBASAL INCLUSION-BODIES - A CLINICAL AND PATHOLOGICAL-STUDY

Clinical, pathological and molecular genetic data are presented in two families in which 15 individuals have developed a progressive dementi a. Clinical details are available in 10 individuals, neuropathological data in 2. Affected individuals presented between the ages of 43 and 59 years with personality change or memory loss. All individuals devel oped a progressive dementia with features of frontal lobe dysfunction. Affected individuals commonly developed additional features which inc luded dysphasia, parkinsonism, limb clumsiness and disequilibrium. Dur ation to death was between 3 and 13 years. Pathological examination of one individual from each family revealed a combination of features no t previously described in a familial dementia. Macroscopic examination revealed lobar atrophy. Microscopy revealed neuronal loss and gliosis with swollen achromatic neurons in the cortex and corticobasal inclus ion bodies in the substantia nigra. On clinical assessment these famil ies have many features of Pick's disease but pathological examination reveals features more suggestive of corticobasal degeneration.