ArticleMovement disorders clinical practice2023
Scoping Review on ADCY5-Related Movement Disorders.
Article in Movement disorders clinical practice, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic Movements.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Update on Genetic Chorea.Current neurology and neuroscience reports · 2026Review
- Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5).Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Modulation of striatal cAMP levels: A key pathway in the treatment of hyperkinetic movement disorders.iScience · 2026Article
- Mixed Movement Disorder Caused byCase reports in neurological medicine · 2026Article
- ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.Movement disorders clinical practice · 2025Article
- Deep Brain Stimulation for Status Dyskineticus in ADCY5-Related Dyskinesia in a 60-Year-Old Woman.Movement disorders clinical practice · 2025Article
- Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect!Annals of Indian Academy of Neurology · 2025Article
- Update on Genetic Chorea.European journal of neurology · 2025Review
- Bmal1 Modulates Striatal cAMP Signaling and Motor Learning.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Treatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.Current issues in molecular biology · 2024Review
- Article
- Novel advanced patient-derivedFrontiers in neurologyReview
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onset disease resulting from pathogenic variants in the Objective: This scoping review attempts to summarize all available clinical literature on ADCY5-RMD. Methods: Eighty-seven articles were selected for inclusion in this scoping review. The majority of articles identified were case reports or case series. Results: These articles demonstrate that patients with ADCY5-RMD suffer from permanent and/ or paroxysmal hyperkinetic movements. The paroxysmal episodes can be worsened by environmental triggers, in particular the sleep-wake transition phase in the early morning. Occurrence of nocturnal paroxysmal dyskinesias and perioral twitches are highly suggestive of the diagnosis when present. In the majority of patients intellectual capacity is preserved. ADCY5-RMD is considered a non-progressive disorder, with inter-individual variations in evolution with aging. Somatic mosaicism, mode of inheritance and the location of the mutation within the protein can influence phenotype. Conclusions: The current evidence for therapeutic options for ADCY5-RMD is limited: caffeine, benzodiazepines and deep brain stimulation have been consistently reported to be useful in case reports and case series.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.