Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

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....

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Bibliographic Details
Published in:Clinical genetics 2014-12, Vol.86 (6), p.521-529
Main Authors: Braun, J.-J., Noblet, V., Durand, M., Scheidecker, S., Zinetti-Bertschy, A., Foucher, J., Marion, V., Muller, J., Riehm, S., Dollfus, H., Kremer, S.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Atrophy
Bardet-Biedl syndrome
Bardet-Biedl Syndrome - physiopathology
Brain
Brain - pathology
brain atrophy
Case-Control Studies
Female
Genetic disorders
Humans
Magnetic Resonance Imaging
Male
Medical research
Morphology
MRI
olfaction
Olfaction Disorders - etiology
Retinitis Pigmentosa - etiology
Smell - physiology
Young Adult
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12391