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Accelerated age-related olfactory decline among type 1 Usher patients

2016Journal article Open access
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dc.contributor.authorRibeiro, JC
dc.contributor.authorOliveiros, B
dc.contributor.authorPereira, P
dc.contributor.authorAntónio, N
dc.contributor.authorHummel, T
dc.contributor.authorPaiva, A
dc.contributor.authorSilva, E
dc.date.accessioned2016-06-24T14:56:28Z
dc.date.available2016-06-24T14:56:28Z
dc.date.issued2016
dc.description.abstractUsher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported. Recent evidence indicates that USH is likely to belong to an emerging class of sensory ciliopathies. Olfaction has recently been implicated in ciliopathies, but the scarce literature about olfaction in USH show conflicting results. We aim to evaluate olfactory impairment as a possible clinical manifestation of USH. Prospective clinical study that included 65 patients with USH and 65 normal age-gender-smoking-habits pair matched subjects. A cross culturally validated version of the Sniffin' Sticks olfaction test was used. Young patients with USH have significantly better olfactory scores than healthy controls. We observe that USH type 1 have a faster ageing olfactory decrease than what happens in healthy subjects, leading to significantly lower olfactory scores in older USH1 patients. Moreover, USH type 1 patients showed significantly higher olfactory scores than USH type 2, what can help distinguishing them. Olfaction represents an attractive tool for USH type classification and pre diagnostic screening due to the low cost and non-invasive nature of the testing. Olfactory dysfunction should be considered among the spectrum of clinical manifestations of Usher syndrome.pt_PT
dc.identifier.citationSci Rep. 2016 Jun 22;6:28309. doi: 10.1038/srep28309.pt_PT
dc.identifier.doi10.1038/srep28309pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.4/1939
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectEnvelhecimentopt_PT
dc.subjectSíndromes de Usherpt_PT
dc.subjectAlterações do Olfatopt_PT
dc.titleAccelerated age-related olfactory decline among type 1 Usher patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage28309pt_PT
oaire.citation.titleScientific reportspt_PT
oaire.citation.volume6pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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