Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.
Fiche publication
Date publication
décembre 2014
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Dr NOBLET Vincent
Tous les auteurs :
Braun JJ, Noblet V, Durand M, Scheidecker S, Zinetti-Bertschy A, Foucher J, Marion V, Muller J, Riehm S, Dollfus H, Kremer S
Lien Pubmed
Résumé
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.
Mots clés
Bardet-Biedl syndrome, MRI, brain atrophy, olfaction
Référence
Clin Genet. 2014 Dec;86(6):521-9