Braun J-J, Noblet V, Durand M, Scheidecker S, Zinetti-Bertschy A, Foucher J, Marion V, Muller J, Riehm S, Dollfus H, Kremer S
Service ORL-CCF, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Clin Genet. 2014 Dec;86(6):521-9. doi: 10.1111/cge.12391. Epub 2014 Apr 18.
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.
巴德-比德尔综合征（BBS）是一种广为人知的纤毛病，其主要特征包括：早发性视网膜色素变性、多指（趾）畸形、肥胖、性腺功能减退、肾脏和认知功能障碍。最近，BBS患者中也出现了嗅觉障碍（嗅觉丧失、嗅觉减退）的描述。此外，已有形态学脑异常的报道，这促使进一步研究以确定它们是原发性的还是继发于外周器官受累（即视觉或嗅觉神经组织）。本文的目的是评估BBS患者的嗅觉障碍，并研究其与形态学脑异常之间的潜在相关性。为此，招募了20名BBS患者，并使用宾夕法尼亚大学嗅觉识别测试（UPSIT）对其嗅觉进行评估。他们所有人都接受了结构磁共振成像（MRI）扫描。我们首先研究了BBS受试者与14名健康志愿者之间的脑形态差异。然后，我们展示了BBS患者存在客观的嗅觉障碍，并强调了几个脑区灰质体积减少与嗅觉功能障碍之间的相关性。
