Monoallelic ADCY5 mutations have been associated with a benign hereditary chorea-like phenotype and a mixed hyperkinetic syndrome with dystonia, chorea, and myoclonus.1–4 We report 2 siblings with generalized dystonia and myoclonus associated with biallelic pathogenic variants in ADCY5 inherited in an autosomal recessive pattern.
Footnotes
Supplemental data at Neurology.org/ng
Author contributions: Dr. Barrett: drafting the original manuscript and analysis and interpretation of data. Dr. Williams, Ms. Chambers, and Dr. Dhamija: analysis and interpretation of data and revising the manuscript for intellectual content.
Study funding: No targeted funding reported.
Disclosure: M.J. Barrett has received research support from Axovant Sciences Inc., Azevan Pharmaceuticals, and Merck Sharp & Dohme Corp. and receives support from the Commonwealth of Virginia's Alzheimer's and Related Diseases Research Award Fund and the Office of the Assistant Secretary of Defense for Health Affairs through the Neurotoxin Exposure Treatment Parkinson's Research Program. E.S. Williams has served on the editorial board of Current Genetic Medicine Reports. C. Chambers and R. Dhamija report no disclosures. Go to Neurology.org/ng for full disclosure forms. The Article Processing Charge was funded by the authors.
- Received February 22, 2017.
- Accepted in final form August 15, 2017.
- Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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