Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/1939
Título: Accelerated age-related olfactory decline among type 1 Usher patients
Autor: Ribeiro, JC
Oliveiros, B
Pereira, P
António, N
Hummel, T
Paiva, A
Silva, E
Palavras-chave: Envelhecimento
Síndromes de Usher
Alterações do Olfato
Data: 2016
Citação: Sci Rep. 2016 Jun 22;6:28309. doi: 10.1038/srep28309.
Resumo: Usher 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.
Peer review: yes
URI: http://hdl.handle.net/10400.4/1939
DOI: 10.1038/srep28309
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