Copper deficiency associated with severe neurological disorder--a genetic work-up of possible mutations in copper transport proteins

Abstract

Background: Copper deficiency has been described as resulting in severe neurological impairment. However, mechanisms underlying a copper deficiency are presently unknown.

Patients and methods: We describe three patients suffering from severe spasticity, ataxia and hyperreflexia and had laboratory evidence of copper deficiency.

Results: Genetic analysis of six copper transporters/chaperones revealed no mutations, but two SNPs in one copper transporter protein and one copper chaperone.

Conclusions: Owing to the severity of the disease further research is required to elucidate the mechanisms leading to copper deficiency.