Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene

Cómo se estudió

Diseño

Reporte de caso (indexado por PubMed)

Estudiado en

Personas

Resultado principal

Marcadores de salud y funcionamiento

Quién lo pagó

Financiación

Financiación independiente

Gobierno

Agence Nationale de la Recherche

Subvenciones

Agence Nationale de la Recherche (ANR-10-IAHU-0006)

Según 1 financiador declarado.

Publicación

Publicado

2019-06-10 · Ann Intern Med · vol. 171 · número 6 · pág. 439

Editorial

American College of Physicians

Citado

40 citas · más que el 94% de estudios similares · 3.9× el promedio de su campo

Impacto

Entre el 10 % más citado de su campo

Referencias

6 trabajos

Acceso

De pago

Áreas de investigación

Genetics and Neurodevelopmental Disorders · Biochemical and Molecular Research · Genomics and Rare Diseases

Palabras clave

Medicine, Girl, Psychiatry, Genetics, Biology

MeSH

humans, dyskinesias, caffeine, mutation, child, madagascar, male, adenylyl cyclases

4 autores

• Aurélie Méneret🇫🇷Centre National de la Recherche Scientifique; Inserm; Sorbonne Université; Assistance Publique – Hôpitaux de Paris; Pitié-Salpêtrière Hospital; Institut du Cerveau
• Domitille Gras🇫🇷Assistance Publique – Hôpitaux de Paris; Hôpital Robert-Debré
• Eavan M. McGovern🇫🇷Centre National de la Recherche Scientifique; Inserm; Sorbonne Université; Assistance Publique – Hôpitaux de Paris; Pitié-Salpêtrière Hospital; Institut du Cerveau
• Emmanuel Roze🇫🇷Centre National de la Recherche Scientifique; Inserm; Sorbonne Université; Assistance Publique – Hôpitaux de Paris; Pitié-Salpêtrière Hospital; Institut du Cerveau

Texto inicial

El texto original del estudio, en el idioma en que se publicó.

Este estudio se publicó sin resumen, como suele pasar con las cartas de investigación y los reportes breves. Así empieza.

Letters17 September 2019Caffeine and the Dyskinesia Related to Mutations in the ADCY5 GeneAurélie Méneret, MD, PhD, Domitille Gras, MD, Eavan McGovern, MD, PhD, and Emmanuel Roze, MD, PhDAurélie Méneret, MD, PhDAssistance 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.), Domitille Gras, MDAP-HP, Robert Debré Hospital, Paris, France (D.G.), Eavan McGovern, MD, PhDAssistance 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.), and Emmanuel Roze, MD, PhDAssistance 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.)Author, Article, and Disclosure Informationhttps://doi.org/10.7326/L19-0038 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail 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 be awakened by dyskinesia.Objective: ...References1. Chen DH, Méneret A, Friedman JR, et al. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2015;85:2026-35. [PMID: 26537056] doi:10.1212/WNL.0000000000002058 CrossrefMedlineGoogle Scholar2. Friedman JR, Méneret A, Chen DH, et al. ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias [Letter]. Mov Disord. 2016;31:147-8. [PMID: 26686870] doi:10.1002/mds.26494 CrossrefMedlineGoogle Scholar3. Carapito R, Paul N, Untrau M, et al. A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015;30:423-7. [PMID: 25545163] doi:10.1002/mds.26115 CrossrefMedlineGoogle Scholar4. Xie X, Ramkumar V, Toth LA. Adenosine and dopamine receptor interactions in striatum and caffeine-induced behavioral activation. Comp Med. 2007;57:538-45. [PMID: 18246865] MedlineGoogle Scholar5. Huang ZL, Qu WM, Eguchi N, et al. Adenosine A2A, but not A1, receptors mediate the arousal effect of caffeine. Nat Neurosci. 2005;8:858-9. [PMID: 15965471] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: 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.This article was published at Annals.org on 11 Jume 2019. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byADCY5 Related Dyskinesia—A Rare MutationEfficacy of Caffeine in ADCY5 ‐Related Dyskinesia: A Retrospective StudyCaenorhabditis elegans provides an efficient drug screening platform for GNAO1 -related disorders and highlights the potential role of caffeine in controlling dyskinesiaTreatable Hyperkinetic Movement Disorders Not to Be MissedTeaching Video NeuroImage: Paroxysmal Nocturnal DyskinesiasPrecision medicine for genetic childhood movement disordersParoxysmal Movement DisordersAn Update on the Phenotype, Genotype and Neurobiology of ADCY5‐Related DiseaseGenetic updates on paroxysmal dyskinesiasCurrent challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disordersDeep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case seriesRecurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine TreatmentClinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic AtaxiasADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder 17 September 2019Volume 171, Issue 6Page: 439KeywordsAdenosineCaffeineChildrenCoffeeDisclosureMovement disordersMutationSafetySportsWalking ePublished: 11 June 2019 Issue Published: 17 September 2019 Copyright & PermissionsCopyright © 2019 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...

Texto vía OpenAlex. Los derechos de autor siguen siendo de los autores o la editorial.

Confianza de la comunidad

Cargando…

¿Cuánto confías en los hallazgos de este estudio?

Comentarios

¿Algo está mal aquí?

Señala este estudio si su información, etiquetas o financiación parecen incorrectas. Un editor revisa cada señalamiento.