Mitochondriopathy mimicking amyotrophic lateral sclerosis
Mitochondriopathy mimicking amyotrophic lateral sclerosis
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DOI：
10.1097/01.nrl.0000038589.58012.a8
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发表时间：
2003-01-01
期刊：
影响因子：
1.2
通讯作者：
Finsterer, J
中科院分区：
文献类型：
--
作者：
Finsterer, J
背景-线粒体病已很少报道模仿运动神经元diseases.Review总结-一个57岁，157厘米高的妇女与运动神经元疾病的临床和电生理特征，自1993年以来的报告。她还出现肝功能参数升高、甲状腺功能减退和窦性心动过速。因为她的母亲和姐姐都死于假定的肌萎缩侧索硬化症（ALS），家族性ALS被诊断为。再评估时，超氧化物歧化酶基因突变筛查为阴性，但乳酸负荷试验异常，肌肉活检显示斑片状考克斯缺乏和线粒体异常。肌肉线粒体DNA的分析显示，在异亮氨酸tRNA，在ATP酶-6，和细胞色素-b基因，分别取代。根据这些数据，ALS的诊断改为线粒体病。结论-线粒体病可能与ALS相似，表型和电生理。在ALS表型、进展缓慢和多系统受累的患者中，应考虑ALS病的诊断可能性。
BACKGROUND- Mitochondriopathy has been rarely reported to imitate motor neuron disease.REVIEW SUMMARY- A 57-year-old, 157-cm-tall woman with clinical and electrophysiological features of motor neuron disease since 1993 is reported. She also had increased liver function parameters, hypothyroidism, and sinus tachycardia. Because her mother and sister had both died from assumed amyotrophic lateral sclerosis (ALS), familial ALS was diagnosed. On reevaluation, screening for superoxide-dismutase gene mutations was negative, but lactate stress testing was abnormal and muscle biopsy revealed patchy COX deficiency and abnormal mitochondria. Analysis of the muscle mtDNA revealed substitutions in the isoleucine tRNA, in the ATPase-6, and in the cytochrome-b gene, respectively. Based on these data, the diagnosis of ALS Was changed to mitochondriopathy.CONCLUSIONS- Mitochondriopathy may mimic ALS, phenotypically and electrophysiologically. in patients with an ALS phenotype, slow progression, and multisystem involvement, mitochondriopathy should be considered a diagnostic possibility.