Zis Panagiotis, Sarrigiannis Ptolemaios Georgios, Rao Dasappaiah Ganesh, Hoggard Nigel, Sanders David Surendran, Hadjivassiliou Marios
Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
University of Sheffield, Sheffield, UK.
Cerebellum Ataxias. 2017 Dec 22;4:20. doi: 10.1186/s40673-017-0079-1. eCollection 2017.
Cerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination without a genetic cause.
We reviewed records of all patients that have been referred to the Sheffield Ataxia Centre who had neurophysiological and imaging data suggestive of SG and cerebellar ataxia respectively. We excluded patients with Friedreich's ataxia, a common cause of this combination. All patients were screened for genetic causes and underwent extensive investigations.
We identified 40 patients (45% males, mean age at symptom onset 53.7 ± 14.7 years) with combined cerebellar ataxia and SG. The majority of patients (40%) were initially diagnosed with cerebellar dysfunction and 30% were initially diagnosed with SG. For 30% the two diagnoses were made at the same time. The mean latency between the two diagnoses was 6.5 ± 8.9 years (range 0-44). The commonest initial manifestation was unsteadiness (77.5%) followed by patchy sensory loss (17.5%) and peripheral neuropathic pain (5%).Nineteen patients (47.5%) had gluten sensitivity, of whom 3 patients (7.5%) had biopsy proven coeliac disease. Other abnormal immunological tests were present in another 15 patients. Six patients had malignancy, which was diagnosed within 5 years of the neurological symptoms. Only 3 patients (7.5%) were classified as having a truly idiopathic combination of cerebellar ataxia with SG.
Our case series highlights that amongst patients with the unusual combination of cerebellar ataxia and SG, immune pathogenesis plays a significant role.
小脑性共济失调合并感觉神经节病（SG）是一种致残性神经功能障碍组合，通常见于某些遗传性共济失调。然而，患者可能无遗传原因而出现这种组合。
我们回顾了所有转诊至谢菲尔德共济失调中心的患者记录，这些患者分别有提示SG和小脑性共济失调的神经生理学和影像学数据。我们排除了弗里德赖希共济失调患者，这是这种组合的常见病因。所有患者均接受遗传病因筛查并进行了广泛检查。
我们确定了40例合并小脑性共济失调和SG的患者（45%为男性，症状出现时的平均年龄为53.7±14.7岁）。大多数患者（40%）最初被诊断为小脑功能障碍，30%最初被诊断为SG。30%的患者同时做出了这两种诊断。两种诊断之间的平均间隔时间为6.5±8.9年（范围0 - 44年）。最常见的初始表现是步态不稳（77.5%），其次是斑片状感觉丧失（17.5%）和周围神经性疼痛（5%）。19例患者（47.5%）对麸质敏感，其中3例（7.5%）经活检证实患有乳糜泻。另外15例患者有其他异常免疫检查结果。6例患者患有恶性肿瘤，在神经症状出现后5年内被诊断出来。只有3例患者（7.5%）被归类为真正患有小脑性共济失调与SG的特发性组合。
我们的病例系列强调，在患有小脑性共济失调和SG这种不寻常组合的患者中，免疫发病机制起着重要作用。
