Familial Calcification of the Basal Ganglions
- 8 July 1971
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 285 (2) , 72-77
- https://doi.org/10.1056/nejm197107082850202
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.Keywords
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