A Rare Cause of Myoclonus: A Cupric Conundrum

Karen M Doherty, Joanne Shields, Raeburn Forbes, Moyra Gray, Seamus Kearney, Alexander P Maxwell, John McKinley

Research output: Contribution to journalArticlepeer-review


A woman aged 22 years presented with a 3-year history of jerks when brushing her teeth and a tremor when carrying drinks. Examination revealed a bilateral jerky tremor, stimulus-sensitive myoclonus, and difficulty with tandem gait. Thyroid and liver function test results were normal, but she had rapidly progressive renal failure. Serum copper, ceruloplasmin, and manganese levels were normal, but her urinary copper level was elevated on 2 occasions. Pathological findings on organ biopsy prompted genetic testing to confirm the diagnosis. The differential diagnosis, tissue biopsy findings, and final genetic diagnosis are discussed.

Original languageEnglish
Pages (from-to)1145-1148
Number of pages4
JournalJAMA neurology
Issue number9
Early online date05 Jul 2016
Publication statusPublished - 01 Sep 2016


  • nephrotic syndrome
  • Genetic Testing
  • myoclonus


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