Primary deficiency of coenzyme Q10 deficiency‐4 (COQ10D4) is an autosomal recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main clinical manifestation involves early‐onset exercise intolerance, progressive cerebellar ataxia, and movement disorders. COQ8A gene mutations are responsible for this disease. Here, we provide clinical, laboratory, and genetic findings of a patient with cerebellar ataxia caused by compound heterozygous mutations in COQ8A gene.

中文翻译：

---

由于COQ8A基因突变导致的主要辅酶Q10缺乏。

辅酶Q10缺乏症（COQ10D4）的主要缺陷是常染色体隐性小脑性共济失调伴线粒体呼吸链功能障碍。主要临床表现包括发作性运动不耐受，进行性小脑共济失调和运动障碍。COQ8A基因突变是造成这种疾病的原因。在这里，我们提供了由COQ8A基因的复合杂合突变引起的小脑性共济失调患者的临床，实验室和遗传学发现。