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...

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Veröffentlicht in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 1988-05, Vol.51 (5), p.709-713
Hauptverfasser: Evans, B K, Donley, D K
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creator Evans, B K
Donley, D K
description 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.
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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.</description><subject>Adult</subject><subject>Basal Ganglia Diseases - genetics</subject><subject>Biological and medical sciences</subject><subject>Calcinosis - genetics</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Malignant tumors</subject><subject>Medical sciences</subject><subject>Parathyroids. Parafollicular cells. Cholecalciferol. 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Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases)</topic><topic>Parkinson Disease, Secondary - genetics</topic><topic>Pedigree</topic><topic>Pseudohypoparathyroidism - genetics</topic><topic>Somatotypes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Evans, B K</creatorcontrib><creatorcontrib>Donley, D K</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing &amp; Allied Health Database</collection><collection>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Nursing &amp; Allied Health Database (Alumni Edition)</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Science Database</collection><collection>Nursing &amp; Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Evans, B K</au><au>Donley, D K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification</atitle><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle><addtitle>J Neurol Neurosurg Psychiatry</addtitle><date>1988-05-01</date><risdate>1988</risdate><volume>51</volume><issue>5</issue><spage>709</spage><epage>713</epage><pages>709-713</pages><issn>0022-3050</issn><eissn>1468-330X</eissn><coden>JNNPAU</coden><abstract>A 20 year old woman with pseudohypoparathyroidism, Parkinsonism and no basal ganglia calcifications shown by computed tomography is reported. 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ispartof Journal of neurology, neurosurgery and psychiatry, 1988-05, Vol.51 (5), p.709-713
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source MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection
subjects Adult
Basal Ganglia Diseases - genetics
Biological and medical sciences
Calcinosis - genetics
Endocrinopathies
Female
Humans
Intellectual Disability - genetics
Malignant tumors
Medical sciences
Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases)
Parkinson Disease, Secondary - genetics
Pedigree
Pseudohypoparathyroidism - genetics
Somatotypes
title Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification
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