Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification.
A 20 year old woman with pseudohypoparathyroidism, Parkinsonism and no basal ganglia calcifications shown by computed tomography is reported. She has typical features of pseudohypoparathyroidism and biochemical evidence of end-organ resistance to parathyroid hormone. She is mentally retarded and has tremor, rigidity, bradykinesia, and stooped posture. The cause of Parkinsonism in pseudohypoparathyroidism is thought to be basal ganglia calcification. This patient must have another pathophysiology, perhaps directly related to a G protein defect, causing impaired neurotransmission.
Evans
B K
BK
Department of Neurology, University of Alabama Medical School, Birmingham 35294.
Donley
D K
DK
D000328:Adult; D001480:Basal Ganglia Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010302:Parkinson Disease, Secondary / Q000235:genetics*; D010375:Pedigree; D011547:Pseudohypoparathyroidism / Q000235:genetics*; D013008:Somatotypes