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.
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