BACKGROUND Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration. Although olfactory dysfunction, a classical clinical marker of neurodegenerative processes, has been reported in Wolfram syndrome, its use as a clinical marker in Wolfram is limited due to data scarcity. In addition, it is unknown whether Wolfram syndrome affects the sense of taste. METHODS Smell and taste perception were assessed in participants with Wolfram syndrome (n = 40) who were 15.1 ± 6.0 years of age (range: 5.1-28.7 years) and two sex- and age-matched control groups: one group with type 1 diabetes mellitus (T1D; n = 25) and a healthy control group (HC; n = 29). Smell sensitivity was assessed by measuring n-butanol detection thresholds and smell identification by using the University of Pennsylvania Smell Identification Test (UPSIT). Taste function was assessed using NIH Toolbox, which includes the assessment of sucrose (sweet) taste preference, and perceived intensity of sucrose, sodium chloride (salty), and quinine hydrochloride (bitter) both in the tip of the tongue (regional test) and the whole mouth. RESULTS Smell sensitivity was not significantly different among groups; however, smell identification was impaired in Wolfram syndrome, as reflected by significantly lower UPSIT scores in Wolfram syndrome compared to HC and T1D (P < 0.001). Compared to participants in the control groups, participants with Wolfram syndrome had a blunted perception of sweetness and saltiness when taste stimuli were applied regionally (P < 0.05), but differences in perceived intensity were no longer significant among groups when taste stimuli were tasted with the whole mouth. Groups preferred similar sucrose concentrations. CONCLUSION Wolfram syndrome was associated with olfactory dysfunction. However, the olfactory dysfunction was qualitative (related to smell identification) and not secondary to olfactory insensitivity or diabetes, suggesting is arising from dysfunction in central olfactory brain regions. In contrast to olfaction, and despite decreased perception of taste intensity in the anterior tongue, the sense of taste was overall well-conserved in individuals with Wolfram syndrome. Future longitudinal studies of taste and smell perception in Wolfram syndrome will be important to determine the use of the chemical senses as clinical markers of disease progression.

中文翻译：

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Wolfram综合征的味觉和嗅觉功能。

背景技术Wolfram综合征是一种罕见的遗传性疾病，其特征在于胰岛素依赖性糖尿病，视神经萎缩，感觉神经性听力减退和神经变性。尽管在Wolfram综合征中已报告了嗅觉功能障碍（神经退行性过程的经典临床标志物），但由于数据稀缺，其在Wolfram中作为临床标志物的用途受到限制。此外，尚不清楚Wolfram综合征是否会影响味觉。方法对15.1±6.0岁（范围：5.1-28.7岁）的Wolfram综合征参与者（n = 40）和两个性别和年龄匹配的对照组进行气味和味觉知觉评估：一组患有1型糖尿病（T1D； n = 25）和健康对照组（HC； n = 29）。通过测量正丁醇检测阈值和使用宾夕法尼亚大学气味识别测试（UPSIT）进行气味识别来评估气味敏感性。使用NIH Toolbox评估了味觉功能，其中包括评估舌尖（区域测试）和蔗糖（甜味）的口味偏好以及蔗糖，氯化钠（咸味）和奎宁盐酸盐（苦味）的感知强度。整个嘴巴。结果各组之间的气味敏感性没有显着差异。但是，Wolfram综合征的气味识别受到损害，这反映在Wolfram综合征的UPSIT得分明显低于HC和T1D（P <0.001）。与对照组的参与者相比，局部应用味觉刺激时，患有Wolfram综合征的参与者对甜味和咸味的感觉减弱（P <0.05），但是当用全口味觉刺激时，各组之间的感知强度差异不再显着。各组优选相似的蔗糖浓度。结论Wolfram综合征与嗅觉功能障碍有关。然而，嗅觉功能障碍是定性的（与气味识别有关），并非继发于嗅觉不敏感或糖尿病，这提示是由于中央嗅觉脑区域功能障碍引起的。与嗅觉相反，尽管前舌对味觉强度的感知减弱，但Wolfram综合征患者的味觉总体上保持良好。