title: A Rare Cause of Myoclonus: A Cupric Conundrum.
abstract: 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.
authors.affiliation: Regional Neurosciences Unit, Royal Victoria Hospital, Belfast, Northern Ireland.
authors.forename: Karen M
authors.initials: KM
authors.lastname: Doherty
authors.affiliation: Regional Nephrology Unit, Belfast City Hospital, Belfast, Northern Ireland.
authors.forename: Joanne
authors.initials: J
authors.lastname: Shields
authors.affiliation: Department of Neurology, Craigavon Area Hospital, Portadown, Northern Ireland.
authors.forename: Raeburn
authors.initials: R
authors.lastname: Forbes
authors.affiliation: Department of Pathology, Royal Victoria Hospital, Belfast, Northern Ireland.
authors.forename: Moyra
authors.initials: M
authors.lastname: Gray
authors.affiliation: Regional Neurosciences Unit, Royal Victoria Hospital, Belfast, Northern Ireland.
authors.forename: Seamus
authors.initials: S
authors.lastname: Kearney
authors.affiliation: Regional Nephrology Unit, Belfast City Hospital, Belfast, Northern Ireland.
authors.forename: Alexander P
authors.initials: AP
authors.lastname: Maxwell
authors.affiliation: Regional Neurosciences Unit, Royal Victoria Hospital, Belfast, Northern Ireland.
authors.forename: John
authors.initials: J
authors.lastname: McKinley
mesh_terms: D003300:Copper / Q000652:urine*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009207:Myoclonus / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000652:urine; D051116:Receptors, Scavenger / Q000235:genetics; D051436:Renal Insufficiency, Chronic / Q000150:complications* / Q000235:genetics / Q000652:urine; D014202:Tremor / Q000150:complications* / Q000235:genetics; D055815:Young Adult
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human; D003300:Copper