Copper and iron are transition elements essential for life. These metals are required to maintain the brain's biochemistry such that deficiency or excess of either copper or iron results in central nervous system disease. This review focuses on the inherited disorders in humans that directly affect copper or iron homeostasis in the brain. Elucidation of the molecular genetic basis of these rare disorders has provided insight into the mechanisms of copper and iron acquisition, trafficking, storage, and excretion in the brain. This knowledge permits a greater understanding of copper and iron roles in neurobiology and neurologic disease and may allow for the development of therapeutic approaches where aberrant metal homeostasis is implicated in disease pathogenesis.

中文翻译：

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大脑的铜和铁疾病。

铜和铁是生命必不可少的过渡元素。这些金属是维持大脑生物化学所必需的，因此铜或铁的缺乏或过量会导致中枢神经系统疾病。这篇综述着重于人类直接影响大脑铜或铁稳态的遗传性疾病。对这些罕见疾病的分子遗传学基础的阐明，使人们对大脑中铜和铁的获取，运输，储存和排泄的机理有了更深入的了解。该知识使人们对铜和铁在神经生物学和神经系统疾病中的作用有了更深入的了解，并且可能允许开发在疾病发病机制中涉及异常金属稳态的治疗方法。