Study2022

Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study

Méneret A, Mohammad SS, Cif L, Doummar D, DeGusmao C, Anheim M, Barth M, Damier P, Demonceau N, Friedman J, Gallea C, Gras D, Gurgel-Giannetti J, Innes EA, Necpál J, Riant F, Sagnes S, Sarret C, Seliverstov Y, Paramanandam V, Shetty K, Tranchant C, Doulazmi M, Vidailhet M, Pringsheim T, Roze E

Movement disorders : official journal of the Movement Disorder Society · 46 citations

Review labels

Funding not disclosed

Neutral facts our review recorded about how this study was done. They describe method, never whether we like the result.

How it was studied

Design
Cross-sectional study (classified by our AI screen)
Studied in
People
Main outcome
Health markers and function

Who paid for it

Funding
Funding not disclosed

Publication

Published
2022-04-05 · Mov Disord · vol. 37 · issue 6 · pp. 1294–1298
Publisher
Wiley
Cited
59 citations · more than 97% of similar papers · 5.4× the field average
Impact
Top 10% most cited in its field
References
16 works
Access
Paywalled
Research areas
Neurological disorders and treatments · Glycogen Storage Diseases and Myoclonus · Parkinson's Disease Mechanisms and Treatments
Keywords
Dyskinesia, Paroxysmal dyskinesia, Caffeine, Movement disorders, Retrospective cohort study, Disease, Medicine, Psychology, Psychiatry, Physical medicine and rehabilitation, Parkinson's disease, Internal medicine
MeSH
humans, movement disorders, dyskinesias, caffeine, retrospective studies, child, adenylyl cyclases

26 authors

From FR, AU, BR, BE, US, SK, RU, IN, CA

  • Aurélie Méneret · correspondingCentre National de la Recherche Scientifique; Inserm; Sorbonne Université; Assistance Publique – Hôpitaux de Paris; Institut du Cerveau
  • Shekeeb S. MohammadThe University of Sydney; Children's Hospital at Westmead
  • Laura CifHôpital Gui de Chauliac
  • Diane DoummarSorbonne Université
  • Claudio DeGusmaoUniversidade Estadual de Campinas (UNICAMP)
  • Mathieu AnheimCentre National de la Recherche Scientifique; Inserm; Institut de génétique et de biologie moléculaire et cellulaire; Hôpitaux Universitaires de Strasbourg; Université de Strasbourg

Abstract

Background

ADCY5-related dyskinesia is characterized by early-onset movement disorders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine.

Objective

The aim is to obtain further insight into the efficacy and safety of caffeine in patients with ADCY5-related dyskinesia.

Methods

A retrospective study was conducted worldwide in 30 patients with a proven ADCY5 mutation who had tried or were taking caffeine for dyskinesia. Disease characteristics and treatment responses were assessed through a questionnaire.

Results

Caffeine was overall well tolerated, even in children, and 87% of patients reported a clear improvement. Caffeine reduced the frequency and duration of paroxysmal movement disorders but also improved baseline movement disorders and some other motor and nonmotor features, with consistent quality-of-life improvement. Three patients reported worsening.

Conclusion

Our findings suggest that caffeine should be considered as a first-line therapeutic option in ADCY5-related dyskinesia. © 2022 International Parkinson and Movement Disorder Society.

Abstract via Europe PMC. Copyright remains with the authors or publisher.

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