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Updated: Jun 16, 2026

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
Published on: April 28, 2023
Copper deficiency associated with severe neurological disorder--a genetic work-up of possible mutations in copper
Jan-Philipp Bach1, Neeraj Kumar, Candan Depboylu
1Department of Neurology, Philipps-University Marburg, Rudolf-Bultmann-Strasse 8, 35039 Marburg, Germany.
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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