OBJECTIVE To determine the clinical usefulness of systemic genetic testing in neuropathies without definite etiology. METHODS We systematically performed genetic testing in all patients with neuropathy who did not have a definite etiology, seen at our neuromuscular clinic between 2017 and 2020. The testing consisted of an inherited neuropathy panel (72-81 genes), which used next-generation sequencing technology. RESULTS We screened 200 patients. Pathogenic mutations were found in 30 (15%). PMP22, TTR and GJB1, accounted for 83.3% of positive mutations. The management was altered in four patients (2%). Two patients were found to have hereditary transthyretin amyloidosis and were started on TTR gene silencers. Two patients were being treated for demyelinating autoimmune neuropathy and were diagnosed with CMT1A and CMTX. CONCLUSION Screening for genetic mutations in patients with neuropathy without a definite etiology is useful. While only a minority of patients with unsuspected inherited neuropathy tested positive, the findings altered management in some, improving morbidity and, perhaps, mortality.

中文翻译：

---

筛查没有明确病因的神经病患者的基因突变是有用的。

目的确定没有明确病因的系统遗传学检测在神经病中的临床应用价值。方法我们对所有病因不明确的神经病患者（在2017年至2020年间在我们的神经肌肉诊所进行观察）进行了系统的基因测试。该测试由遗传性神经病专家组（72-81个基因）组成，该基因组采用了下一代测序技术。结果我们筛选了200名患者。在30（15％）中发现了致病突变。PMP22，TTR和GJB1占阳性突变的83.3％。改变了四名患者（2％）的管理。发现两名患者患有遗传性甲状腺素转运蛋白淀粉样变性，并开始使用TTR基因沉默子。两名患者正在接受脱髓鞘性自身免疫性神经病的治疗，并被诊断出患有CMT1A和CMTX。结论筛查没有明确病因的神经病患者的基因突变是有用的。虽然只有少数患有未怀疑的遗传性神经病的患者测试呈阳性，但这些发现改变了某些患者的治疗方法，从而改善了发病率，甚至提高了死亡率。