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Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Méneret, Aurélie; Mohammad, Shekeeb S; Cif, Laura; Doummar, Diane; DeGusmao, Claudio; Anheim, Mathieu; Barth, Magalie; Damier, Philippe; Demonceau, Nathalie; Friedman, Jennifer; Gallea, Cécile; Gras, Domitille; Gurgel-Giannetti, Juliana; Innes, Emily A; Necpál, Ján; Riant, Florence; Sagnes, Sandrine; Sarret, Catherine; Seliverstov, Yury; Paramanandam, Vijayashankar; Shetty, Kuldeep; Tranchant, Christine; Doulazmi, Mohamed; Vidailhet, Marie; Pringsheim, Tamara; Roze, Emmanuel.
Afiliación
  • Méneret A; Inserm U1127, CNRS UMR7225, UM75, Paris Brain Institute, Assistance Publique-Hôpitaux de Paris, DMU Neurosciences, Sorbonne University, Paris, France.
  • Mohammad SS; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, The University of Sydney, Westmead, New South Wales, Australia.
  • Cif L; Département de Neurochirurgie, Hôpital Gui de Chauliac, Centre Hospitalier Universitaire Montpellier, Montpellier, France.
  • Doummar D; Service de Neuropédiatrie-Pathologie du développement, centre de référence mouvements anormaux enfant, Hôpital Trousseau AP-HP.SU, FHU I2D2, Sorbonne Université, Paris, France.
  • DeGusmao C; University of Campinas, UNICAMP, Campinas, Brazil.
  • Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Barth M; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch-Graffenstaden, France.
  • Damier P; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.
  • Demonceau N; Service de génétique, CHU d'Angers, Angers, France.
  • Friedman J; CHU de Nantes, INSERM, CIC 1314, Hôpital Laennec, Nantes, France.
  • Gallea C; Département de Pédiatrie du CHC MontLegia, Liège, Belgium.
  • Gras D; Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California, USA.
  • Gurgel-Giannetti J; Division of Neurology, Rady Children's Hospital, San Diego, California, USA.
  • Innes EA; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
  • Necpál J; Sorbonne University, INSERM, CNRS, Paris Brain Institute, Paris, France.
  • Riant F; U1141 Neurodiderot, équipe 5 inDev, Inserm, CEA, UP, UNIACTNeurospin, Joliot, DRF, CEA, Saclay, France.
  • Sagnes S; Department of Pediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
  • Sarret C; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, The University of Sydney, Westmead, New South Wales, Australia.
  • Seliverstov Y; University of Notre Dame Australia, School of Medicine, Sydney, NSW, Australia.
  • Paramanandam V; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
  • Shetty K; Service de Génétique Moléculaire, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Tranchant C; Délégation à la Recherche Clinique et à l'Innovation-DRCI (Clinical Research and Innovation Department) and URC (Clinical Research Unit) GH Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Doulazmi M; Service de pédiatrie, hôpital Estaing, Centre hospitalier universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
  • Vidailhet M; Research Center of Neurology, Moscow, Russia.
  • Pringsheim T; Kazaryan Clinic of Epileptology and Neurology, Moscow, Russia.
  • Roze E; Apollo Hospitals, Chennai, India.
Mov Disord ; 37(6): 1294-1298, 2022 06.
Article en En | MEDLINE | ID: mdl-35384065
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discinesias / Trastornos del Movimiento Tipo de estudio: Etiology_studies / Observational_studies Aspecto: Patient_preference Límite: Child / Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discinesias / Trastornos del Movimiento Tipo de estudio: Etiology_studies / Observational_studies Aspecto: Patient_preference Límite: Child / Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos