Abstract Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is an adult onset sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia associated with mutations in POLG1. We report a 38-year-old woman with a history of progressive gait instability and bilateral ptosis. Neurological examination found ataxia, ophthalmoplegia, and dysarthria. MRI showed bilateral thalamic and cerebellar lesions. A POLG related disorder was suspected and after DNA sequencing a SANDO with a novel mutation in POLG was confirmed.

中文翻译：

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具有 POLG 新突变（c.3287G>T）的 SANDO 共济失调神经病谱的 MRI 结果：病例报告。

摘要 伴有构音障碍和眼肌麻痹的感觉性共济失调神经病 (SANDO) 是一种成人发病的感觉性共济失调神经病、构音障碍和慢性进行性外眼肌麻痹，与 POLG1 突变相关。我们报告了一名 38 岁的女性，她有进行性步态不稳和双侧上睑下垂的病史。神经系统检查发现共济失调、眼肌麻痹和构音障碍。MRI显示双侧丘脑和小脑病变。怀疑与 POLG 相关的疾病，并在对 POLG 中具有新突变的 SANDO 进行 DNA 测序后得到证实。