Familial idiopathic cerebral calcifications

Abstract

Nine members of a family spanning 3 generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance; 2 developed chorea, dementia and a characteristic speech disturbance (palilalia) in the third or fourth decade; third possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurologic signs are younger than 25 yr. All 9 patients had normal calcium and phosphorus, and no evidence of endocrinologic or somatic abnormalities. This 'idiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism.