We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Clinical Pathologic Conference |

A Rare Cause of Myoclonus A Cupric Conundrum

Karen M. Doherty, MD1; Joanne Shields, FRCP2; Raeburn Forbes, FRCP3; Moyra Gray, FRCPath4; Seamus Kearney, MRCP1; Alexander P. Maxwell, FRCP2; John McKinley, MRCP1
[+] Author Affiliations
1Regional Neurosciences Unit, Royal Victoria Hospital, Belfast, Northern Ireland
2Regional Nephrology Unit, Belfast City Hospital, Belfast, Northern Ireland
3Department of Neurology, Craigavon Area Hospital, Portadown, Northern Ireland
4Department of Pathology, Royal Victoria Hospital, Belfast, Northern Ireland
JAMA Neurol. 2016;73(9):1145-1148. doi:10.1001/jamaneurol.2016.1553.
Text Size: A A A
Published online

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.

Figures in this Article

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?


Place holder to copy figure label and caption
Renal Biopsy

Examination of the renal cortex revealed focal segmental glomerulosclerosis. Some glomeruli were completely sclerosed (yellow arrowhead [B]), while others had foci of sclerosis as seen in the perihilar region (white arrowheads). Partial collapse of the capillary tuft (blue arrowhead [A]) separates it from the basement membrane. Both images are from the same field (left panel, hematoxylin-eosin [A]; right panel, silver staining [B]).

Graphic Jump Location




Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Video 1.

Patient at First Presentation to Movement Disorder Specialist

The video shows postural and action tremor of the outstretched hands and myoclonus (stimulus sensitivity is demonstrated, and jerks are evident when drawing the Archimedes spiral).

Video 2.

Patient 9 Months Later, 2 Months Post–Renal Transplant

The video shows tremor, myoclonus, and dysmetria (past-pointing). The myoclonic jerks cause her difficulty pouring water from one cup to another. Tandem gait is unsteady.

Some tools below are only available to our subscribers or users with an online account.

0 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections
PubMed Articles

The Rational Clinical Examination: Evidence-Based Clinical Diagnosis
Original Article: Does This Patient Have Aortic Regurgitation?

The Rational Clinical Examination: Evidence-Based Clinical Diagnosis
The Bottom Line for Aortic Regurgitation