{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:49Z","timestamp":1791333349169,"version":"4.3.1"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,4,18]],"date-time":"2014-04-18T00:00:00Z","timestamp":1397779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"PHRC","award":["IDCRB 2007-A00868-45"],"award-info":[{"award-number":["IDCRB 2007-A00868-45"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>Bardet\u2010Biedl syndrome (<jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content>) is a well\u2010recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and cognitive impairment. Recently, disorders of olfaction (anosmia, hyposmia) have been also described in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> patients. Moreover, morphological brain anomalies have been reported and prompt for further investigations to determine whether they are primary or secondary to peripheral organ involvement (i.e. visual or olfactory neuronal tissue). The objective of this article is to evaluate olfactory disorders in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> patients and to investigate putative correlation with morphological cerebral anomalies. To this end, 20 <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> patients were recruited and evaluated for olfaction using the University of Pennsylvania Smell Identification Test (<jats:styled-content style=\"fixed-case\">UPSIT<\/jats:styled-content>). All of them underwent a structural magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) scan. We first investigated brain morphological differences between <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> subjects and 14 healthy volunteers. Then, we showed objective olfaction disorders in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> patients and highlight correlation between gray matter volume reduction and olfaction dysfunction in several brain areas.<\/jats:p>","DOI":"10.1111\/cge.12391","type":"journal-article","created":{"date-parts":[[2014,3,29]],"date-time":"2014-03-29T13:53:04Z","timestamp":1396101184000},"page":"521-529","source":"Crossref","is-referenced-by-count":38,"title":["Olfaction evaluation and correlation with brain atrophy in Bardet\u2010Biedl syndrome"],"prefix":"10.1111","volume":"86","author":[{"given":"J.\u2010J.","family":"Braun","sequence":"first","affiliation":[{"name":"Service ORL\u2010CCF H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Noblet","sequence":"additional","affiliation":[{"name":"Laboratoire ICUBE, UMR CNRS 7357 Universit\u00e9 de Strasbourg  Strasbourg 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