Hadjivassiliou Marios, Sanders David D, Aeschlimann Daniel P
Dig Dis. 2015;33(2):264-268. doi: 10.1159/000369509. Epub 2015 Apr 22.
The term gluten-related disorders (GRD) refers to a spectrum of diverse clinical manifestations triggered by the ingestion of gluten in genetically susceptible individuals. They include both intestinal and extraintestinal manifestations. Gluten ataxia (GA) is one of the commonest neurological manifestations of GRD. It was originally defined as otherwise idiopathic sporadic ataxia in the presence of circulating antigliadin antibodies of IgA and/or IgG type. Newer more specific serological markers have been identified but are not as yet readily available. GA has a prevalence of 15% amongst all ataxias and 40% of all idiopathic sporadic ataxias. It usually presents with gait and lower limb ataxia. It is of insidious onset with a mean age at onset of 53 years. Up to 40% of patients have evidence of enteropathy on duodenal biopsy. Gastrointestinal symptoms are seldom prominent and are not a reliable indicator for the presence of enteropathy. Furthermore, the presence of enteropathy does not influence the response to a gluten-free diet. Most patients will stabilise or improve with strict adherence to gluten-free diet depending on the duration of the ataxia prior to the treatment. Up to 60% of patients with GA have evidence of cerebellar atrophy on MR imaging, but all patients have spectroscopic abnormalities primarily affecting the vermis. Recent evidence suggests that patients with newly diagnosed coeliac disease presenting to the gastroenterologists have abnormal MR spectroscopy at presentation associated with clinical evidence of subtle cerebellar dysfunction. The advantage of early diagnosis and treatment (mean age 42 years in patients presenting with gastrointestinal symptoms vs. 53 years in patients presenting with ataxia) may protect the first group from the development and/or progression of neurological dysfunction.
麸质相关疾病(GRD)这一术语指的是在遗传易感性个体中,因摄入麸质而引发的一系列不同临床表现。它们包括肠道和肠道外表现。麸质共济失调(GA)是GRD最常见的神经学表现之一。它最初被定义为在存在IgA和/或IgG型循环抗麦醇溶蛋白抗体的情况下,原因不明的散发性共济失调。现已确定了更新的、更具特异性的血清学标志物,但目前尚不易获得。GA在所有共济失调中患病率为15%,在所有特发性散发性共济失调中占40%。它通常表现为步态和下肢共济失调。起病隐匿,平均发病年龄为53岁。高达40%的患者十二指肠活检有肠病证据。胃肠道症状很少突出,不是肠病存在的可靠指标。此外,肠病的存在并不影响对面筋无谷蛋白饮食的反应。大多数患者严格坚持无麸质饮食后病情会稳定或改善,这取决于治疗前共济失调的持续时间。高达60%的GA患者磁共振成像显示有小脑萎缩,但所有患者都有主要影响小脑蚓部的波谱异常。最近的证据表明,向胃肠病学家就诊的新诊断乳糜泻患者在就诊时磁共振波谱异常,并伴有轻微小脑功能障碍的临床证据。早期诊断和治疗的优势(出现胃肠道症状的患者平均年龄为42岁,而出现共济失调的患者为53岁)可能会保护第一组患者免受神经功能障碍的发生和/或进展。