Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy
Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy
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DOI：
10.1002/mus.20495
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发表时间：
2006-05-01
期刊：
影响因子：
3.4
通讯作者：
Andersen, PM
中科院分区：
文献类型：
--
作者：
Stewart, HG;Mackenzie, IR;Andersen, PM
一位71岁的女性，有肌萎缩性侧索硬化症（ALS）的家族史，被调查对称，近端肢体和腹部肌肉无力。初步检查显示手臂和腿部轻度近端肌无力，血清肌酸激酶（CK）水平轻微升高，肌电图（EMG）结果正常。假定诊断为肌病。在接下来的一年里，虚弱变得严重，肌腱反射变得不可避免；未见上肢运动体征。肌电图显示急性和慢性去神经支配，肌肉活检显示靶纤维和成组萎缩。DNA分析显示G72C cuzn -超氧化物歧化酶（SOD1）突变。整个疾病没有束状带。患者在症状出现53个月后死亡，尸检显示下运动神经元（LIVIN）和sod1阳性包涵体丢失。本病例扩展了与SOD1突变相关的ALS的表型谱，包括呈现类似肌病的特征。
A 71-year-old woman with a family history of amyotrophic lateral sclerosis (ALS) was investigated for symmetrical, proximal limb and abdominal muscle weakness. Initial examination showed mild proximal muscle weakness in the arms and legs, slightly elevated serum creatine kinase (CK) level, and normal electromyographic (EMG) findings. A myopathy was the presumed diagnosis. Over the next year, weakness became severe and tendon reflexes became unelicitable; no upper motor signs were present. EMG then showed acute and chronic denervation and a muscle biopsy showed target fibers and grouped atrophy. DNA analysis revealed a G72C CuZn-superoxide dismutase (SOD1) mutation. Fasciculations were absent throughout the disease. The patient died 53 months after symptom onset and autopsy revealed loss of lower motor neurons (LIVIN) and SOD1-positive inclusions. This case expands the phenotypic spectrum of ALS associated with SOD1 mutations to include presenting features that mimic a myopathy.