Familial Calcification of the Basal Ganglions

Abstract

A metabolic and genetic study of familial basal-ganglion calcification was undertaken after a kindred with five affected members was identified. Three of five patients were investigated with the use of purified parathyroid hormone and measurement of urinary 3′,5′-AMP response. A greater than normal base-line output of 3′,5′-AMP and greater than normal excretion of 3′,5′-AMP in response to the hormone was noted. These results contrast with earlier reports of hormone unresponsiveness. The pedigree defined suggests an autosomal dominant disorder. Five cases spanning two generations were identified. Both sexes were affected equally, male-to-male transmission was documented, and three of six of the offspring of affected patients were also affected. Signs and symptoms were confined to the nervous system. The metabolic and genetic studies presented distinguish this syndrome from states of deficiency or ineffectiveness of parathyroid hormone known to be associated with basal-ganglion calcification.