Disorders of heavy metals

Handb Clin Neurol. 2014:120:851-64. doi: 10.1016/B978-0-7020-4087-0.00057-7.


Heavy metals and trace elements play an important role in relation to the physiology and pathology of the nervous system. Neurologic diseases related to disorders of metabolism of copper and iron are reviewed. Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital horn syndrome, ATP7A-related distal motor neuropathy, and Wilson disease) and acquired diseases associated with copper deficiency or copper excess. Iron brain disorders are divided into genetic neurodegeneration with brain iron accumulation (NBIA, neuroferritinopathy, and aceruloplasminemia), genetic systemic iron accumulation with neurologic features (hemochromatosis), and acquired diseases associated with iron excess (superficial siderosis) or iron deficiency (restless leg syndrome). The main features of cadmium, lead, aluminum, mercury, and manganese toxicity are summarized.

Keywords: Heavy metals; Menkes disease; NBIA; PKAN; Wilson disease; aceruloplasminemia; copper; iron; neuroferritinopathy; occipital horn syndrome.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Humans
  • Metabolic Diseases / complications*
  • Metabolic Diseases / diagnosis
  • Metabolic Diseases / genetics
  • Metabolic Diseases / metabolism*
  • Metals, Heavy / metabolism*
  • Nervous System Diseases / etiology*
  • Neuroimaging


  • Metals, Heavy
  • Adenosine Triphosphatases