Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
ADCY5
caffeine
dystonia
hyperkinetic
paroxysmal dyskinesia
Journal
Movement disorders : official journal of the Movement Disorder Society
ISSN: 1531-8257
Titre abrégé: Mov Disord
Pays: United States
ID NLM: 8610688
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
revised:
08
02
2022
received:
10
12
2021
accepted:
15
03
2022
pubmed:
7
4
2022
medline:
18
6
2022
entrez:
6
4
2022
Statut:
ppublish
Résumé
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. The aim is to obtain further insight into the efficacy and safety of caffeine in patients with ADCY5-related dyskinesia. 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. 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. 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.
Sections du résumé
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.
Substances chimiques
Caffeine
3G6A5W338E
Adenylyl Cyclases
EC 4.6.1.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1294-1298Informations de copyright
© 2022 International Parkinson and Movement Disorder Society.
Références
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