{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:08:27Z","timestamp":1790874507301,"version":"4.1.0"},"reference-count":55,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,8,24]],"date-time":"2016-08-24T00:00:00Z","timestamp":1471996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000319","name":"Alzheimer's Research Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000319","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000320","name":"Alzheimer's Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000320","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Brain and Behavior"],"published-print":{"date-parts":[[2016,9]]},"abstract":"\n Pseudohypoparathyroidism type 1b (\n PHP1b<\/jats:styled-content>\n ) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (\n PTH<\/jats:styled-content>\n ), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of\n PHP1b<\/jats:styled-content>\n with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband showed severe hypocalcemia, hyperphosphatemia and normal levels of\n PTH<\/jats:styled-content>\n , which was considered to be compatible with primary hypoparathyroidism. With disease progression the patient developed cognitive disturbance,\n PTH<\/jats:styled-content>\n levels were found to be slightly elevated and a picture of\n PTH<\/jats:styled-content>\n resistance syndrome seemed more probable. The diagnosis of\n PHP1b<\/jats:styled-content>\n was established after the study of family members and blunted urinary\n cAMP<\/jats:styled-content>\n results were obtained in a\n PTH<\/jats:styled-content>\n stimulation test. Integration of whole genome genotyping and exome sequencing data supported this diagnosis by revealing a novel homozygous missense mutation in\n \n PTH1R<\/jats:styled-content>\n <\/jats:italic>\n (p.\n Arg186His<\/jats:styled-content>\n ) completely segregating with the disease. Here, we demonstrate segregation of a novel mutation in\n \n PTH1R<\/jats:styled-content>\n <\/jats:italic>\n with a phenotype of\n PHP1b<\/jats:styled-content>\n presenting with neurological symptoms, but no bone defects. This case represents the extreme end of the spectrum of cognitive impairment in\n PTH<\/jats:styled-content>\n dysfunction and defines a possible novel form of\n PHP1b<\/jats:styled-content>\n resulting from the impaired interaction between\n PTH<\/jats:styled-content>\n and\n PTH1R<\/jats:styled-content>\n .\n <\/jats:p>","DOI":"10.1111\/gbb.12308","type":"journal-article","created":{"date-parts":[[2016,7,14]],"date-time":"2016-07-14T10:25:38Z","timestamp":1468491938000},"page":"669-677","source":"Crossref","is-referenced-by-count":19,"title":["Pseudohypoparathyroidism type I\u2010b with neurological involvement is associated with a homozygous\n \n PTH1R<\/scp>\n <\/i>\n mutation"],"prefix":"10.1111","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5879-3486","authenticated-orcid":false,"given":"R.","family":"Guerreiro","sequence":"first","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology London UK"},{"name":"Department of Medical Sciences, Institute of Biomedicine\u00a0\u2013\u00a0iBiMED University of Aveiro Aveiro Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Br\u00e1s","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology London UK"},{"name":"Department of Medical Sciences, Institute of Biomedicine\u00a0\u2013\u00a0iBiMED University of Aveiro Aveiro Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Batista","sequence":"additional","affiliation":[{"name":"Neurology Department Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Pires","sequence":"additional","affiliation":[{"name":"Hospital do Santo Esp\u00edrito Terceira Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. H.","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"CNC\u00a0\u2013\u00a0Center for Neuroscience and Cell Biology"},{"name":"Faculty of Medicine University of Coimbra Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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