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Letters |17 September 2019

Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene

Aurélie Méneret, MD, PhD; Domitille Gras, MD; Eavan McGovern, MD, PhD; Emmanuel Roze, MD, PhD

Article, Author, and Disclosure Information
Author, Article, and Disclosure Information
This article was published at Annals.org on 11 Jume 2019.
  • Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Inserm U 1127, CNRS UMR 7225, Sorbonne University, UPMC Univ Paris 06 UMR S 1127, Paris, France (A.M., E.M., E.R.)
    AP-HP, Robert Debré Hospital, Paris, France (D.G.)

    Note: The patient's parents gave their consent to publish this case report.

    Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L19-0038.

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Background: The gene ADCY5 codes for adenylate cyclase type 5. Some mutations in this gene lead to ADCY5-related dyskinesia, a rare hyperkinetic movement disorder with onset in childhood (1). This condition is characterized by pleiotropic paroxysmal dyskinesia with marked fluctuations (2). No effective treatment exists. Among the patients in whom we diagnosed this disorder are a father and daughter with diurnal and nocturnal paroxysmal dyskinesia. They told us they can prevent these episodes by drinking coffee. For example, the father told us that he would never go to bed without drinking coffee; otherwise, he would...
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Méneret A, Gras D, McGovern E, et al. Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene. Ann Intern Med. 2019;171:439. [Epub ahead of print 11 June 2019]. doi: 10.7326/L19-0038

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Published: Ann Intern Med. 2019;171(6):439.

DOI: 10.7326/L19-0038

Published at www.annals.org on 11 June 2019

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2019 American College of Physicians
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