J. J. B. and V. N. have equally contributed to this work.
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome
Article first published online: 18 APR 2014
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 86, Issue 6, pages 521–529, December 2014
How to Cite
Braun, J.-J., Noblet, V., Durand, M., Scheidecker, S., Zinetti-Bertschy, A., Foucher, J., Marion, V., Muller, J., Riehm, S., Dollfus, H. and Kremer, S. (2014), Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome. Clinical Genetics, 86: 521–529. doi: 10.1111/cge.12391
The authors declare that they have no conflict of interest.
- Issue published online: 20 NOV 2014
- Article first published online: 18 APR 2014
- Accepted manuscript online: 29 MAR 2014 08:35AM EST
- Manuscript Accepted: 27 MAR 2014
- Manuscript Revised: 26 MAR 2014
- Manuscript Received: 20 DEC 2013
- PHRC National Bardet Biedl 2007 IDRCB 2007-A00868-45
- Bardet-Biedl syndrome;
- brain atrophy;
Bardet-Biedl syndrome (BBS) is a well-recognized 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 BBS 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 BBS patients and to investigate putative correlation with morphological cerebral anomalies. To this end, 20 BBS patients were recruited and evaluated for olfaction using the University of Pennsylvania Smell Identification Test (UPSIT). All of them underwent a structural magnetic resonance imaging (MRI) scan. We first investigated brain morphological differences between BBS subjects and 14 healthy volunteers. Then, we showed objective olfaction disorders in BBS patients and highlight correlation between gray matter volume reduction and olfaction dysfunction in several brain areas.