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Title: Evidence for impaired olfactory function and structural brain integrity in a disorder of ciliary function, Usher syndrome
Authors: Ramos, João Nuno Pinto 
Ribeiro, João Carlos 
Pereira, Andreia Carvalho 
Ferreira, Sónia 
Duarte, Isabel Catarina 
Castelo-Branco, Miguel 
Keywords: Usher syndrome; MRI; Brain; Smell Olfaction
Issue Date: 2019
Publisher: Elsevier
Project: This work was supported by the Portuguese Funding Agency for Science and Technology (FCT) grants E-Rare4/0001/2012, MEDPERSYST, POCI 01-145 - FEDER 016428 and PEST- COMPETE POCI 01-145- FEDER - 007440, UID/NEU/04539/2013. 
Serial title, monograph or event: NeuroImage: Clinical
Volume: 22
Abstract: Diseases involving cilia dysfunction, such as Usher Syndrome (USH), often involve visual and auditory loss. Psychophysical evidence has suggested that this may also hold true for the peripheral olfactory domain. Here we aimed to go a step further by attempting to establish relations between the integrity of cortical structures and olfactory function in this condition. We investigated olfactory function for USH types 1 (USH1) and 2 (USH2). Bilateral olfactory bulb (OB) volume and olfactory sulcus (OS) depth were also analysed. Thirty-three controls with no previous olfactory deficits were age, sex and handedness-matched to 32 USH patients (11 USH1, 21 USH2). A butanol detection threshold test was performed to measure olfactory function. For OB volume and OS depth, morphometric measurements were performed using magnetic resonance imaging (MRI) based on detailed segmentation by three independent operators. Averaged values across these were used for the statistical analyses. Total intracranial volume was estimated using Freesurfer to account for head size variability. Olfactory threshold was significantly lower in controls when compared to USH, USH1, and USH2. OS depth was found to be shallower in both hemispheres in USH patients when compared with the control group. OB volume was not significantly different between control and USH groups, or respective subgroups. Nevertheless, butanol threshold was negatively correlated with the left OB volume for the USH type 1 subgroup. The main effect of OS depth reduction was found to be mainly due to the comparison between USH2 and controls. Our results provide evidence for morphometric changes and olfactory dysfunction in patients with USH. This correlated with a reduction in left OB volume in the USH1 subgroup, the most severe USH phenotype. The main effect of reduced OS depth was found to stem mainly from USH2 raising questions regarding a possible complex interaction between sensory olfactory loss and central cortical changes in this disease.
ISSN: 22131582
DOI: 10.1016/j.nicl.2019.101757
Rights: openAccess
Appears in Collections:I&D CNC - Artigos em Revistas Internacionais
I&D CIBIT - Artigos em Revistas Internacionais
I&D ICNAS - Artigos em Revistas Internacionais
FMUC Medicina - Artigos em Revistas Internacionais

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