Journal of the neurological sciences · 2010
Copper deficiency associated with severe neurological disorder--a genetic work-up of possible mutations in copper transport proteins.
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Bach Jan-Philipp, Kumar Neeraj, Depboylu Candan, Noelker Carmen, Klockgether Thomas, Bacher Michael, Balzer-Geldsetzer Monika, Dodel Richard
Аннотация
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.
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.