MRI 表现与 POLG 基因（c.3287G>T）新型突变相关的 SANDO 型共济失调神经病谱：一例报告。

MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.

机构信息

Department of Neurology, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Hospital 278. Guadalajara, Jalisco 44280, Mexico.

出版信息

Neuromuscul Disord. 2020 Jul;30(7):590-592. doi: 10.1016/j.nmd.2020.04.008. Epub 2020 May 19.

DOI:10.1016/j.nmd.2020.04.008

PMID:32600829

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.

摘要

感觉运动性共济失调性神经病伴构音障碍和眼外肌瘫痪（SANDO）是一种成年起病的感觉运动性共济失调性神经病，构音障碍和慢性进行性外展性眼肌麻痹与 POLG1 突变相关。我们报告了一例 38 岁女性，有进行性步态不稳和双侧上睑下垂的病史。神经科检查发现共济失调、眼肌瘫痪和构音障碍。MRI 显示双侧丘脑和小脑病变。怀疑为 POLG 相关疾病，DNA 测序后证实存在 SANDO 伴 POLG 新突变。