PDF(Pubmed)
Abstract：
BACKGROUND: Individuals with variants of cytochrome c oxidase assembly factor 7 (COA7), a mitochondrial functional-related gene, exhibit symptoms of spinocerebellar ataxia with axonal neuropathy before the age of 20. However, COA7 variants with parkinsonism or adult-onset type cases have not been described.
METHODS: We report the case of a patient who developed cerebellar symptoms and slowly progressive sensory and motor neuropathy in the extremities, similar to Charcot-Marie-Tooth disease, at age 30, followed by parkinsonism at age 58. Exome analysis revealed COA7 missense mutation in homozygotes (NM_023077.2:c.17A > G, NP_075565.2: p.Asp6Gly). Dopamine transporter single-photon emission computed tomography using a 123I-Ioflupane revealed clear hypo-accumulation in the bilateral striatum. However, 123I-metaiodobenzylguanidine myocardial scintigraphy showed normal sympathetic nerve function. Levodopa administration improved parkinsonism in this patient.
CONCLUSIONS: COA7 gene variants may have caused parkinsonism in this case because mitochondrial function-related genes, such as parkin and PINK1, are known causative genes in some familial Parkinson\'s diseases.
METHODS: We report the case of a patient who developed cerebellar symptoms and slowly progressive sensory and motor neuropathy in the extremities, similar to Charcot-Marie-Tooth disease, at age 30, followed by parkinsonism at age 58. Exome analysis revealed COA7 missense mutation in homozygotes (NM_023077.2:c.17A > G, NP_075565.2: p.Asp6Gly). Dopamine transporter single-photon emission computed tomography using a 123I-Ioflupane revealed clear hypo-accumulation in the bilateral striatum. However, 123I-metaiodobenzylguanidine myocardial scintigraphy showed normal sympathetic nerve function. Levodopa administration improved parkinsonism in this patient.
CONCLUSIONS: COA7 gene variants may have caused parkinsonism in this case because mitochondrial function-related genes, such as parkin and PINK1, are known causative genes in some familial Parkinson\'s diseases.
摘要：
背景：具有细胞色素c氧化酶组装因子7（COA7）变体的个体，线粒体功能相关基因，在20岁之前表现出脊髓小脑共济失调和轴索神经病的症状。然而,尚未描述患有帕金森病或成人发作型病例的COA7变体。
方法：我们报告了一例出现小脑症状并在四肢缓慢进行性感觉和运动神经病的患者，类似于Charcot-Marie-Tooth病,30岁，其次是帕金森病，58岁。外显子组分析显示纯合子中的COA7错义突变（NM_023077.2：c.17A>G，NP_075565.2：p.Asp6Gly）。使用123I-Ioflupane的多巴胺转运蛋白单光子发射计算机断层扫描显示，双侧纹状体中明显的低积累。然而,123I-间碘苄基胍心肌显像显示交感神经功能正常。左旋多巴给药可改善该患者的帕金森病。
结论：在这种情况下，COA7基因变异可能导致帕金森病，因为线粒体功能相关基因，例如parkin和PINK1是一些家族性帕金森病的已知致病基因。
方法：我们报告了一例出现小脑症状并在四肢缓慢进行性感觉和运动神经病的患者，类似于Charcot-Marie-Tooth病,30岁，其次是帕金森病，58岁。外显子组分析显示纯合子中的COA7错义突变（NM_023077.2：c.17A>G，NP_075565.2：p.Asp6Gly）。使用123I-Ioflupane的多巴胺转运蛋白单光子发射计算机断层扫描显示，双侧纹状体中明显的低积累。然而,123I-间碘苄基胍心肌显像显示交感神经功能正常。左旋多巴给药可改善该患者的帕金森病。
结论：在这种情况下，COA7基因变异可能导致帕金森病，因为线粒体功能相关基因，例如parkin和PINK1是一些家族性帕金森病的已知致病基因。
