ArticleJournal of neurology2020
Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series.
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review.European journal of neurology · 2026Pooled it
- Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5).Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Effects of Pallidal Deep Brain Stimulation on Speech and Swallowing in Pediatric Patients with Dystonia.Movement disorders clinical practice · 2026Article
- Mixed Movement Disorder Caused byCase reports in neurological medicine · 2026Article
- Deep Brain Stimulation for Status Dyskineticus in ADCY5-Related Dyskinesia in a 60-Year-Old Woman.Movement disorders clinical practice · 2025Article
- Treatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
- ADCY5-related dyskinesia: a case report.Neurological research and practice · 2022Article
- Genetic updates on paroxysmal dyskinesias.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.Frontiers in neurology · 2021Review
- Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.Frontiers in neurology · 2020Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbations of dyskinesia are a particularly disturbing symptom as they occur predominantly during night and interrupt sleep. We present the clinical short- and long-term effects of pallidal deep brain stimulation (DBS) in three patients with a confirmed pathogenic ADCY5 mutation. Patients were implanted with bilateral pallidal DBS at the age of 34, 20 and 13 years. Medical records were reviewed for clinical history. Pre- and postoperative video files were assessed using the "Abnormal Involuntary Movement Scale" (AIMS) as well as the motor part of the "Burke Fahn Marsden Dystonia Rating Scale" (BFMDRS). All patients reported subjective general improvement ranging from 40 to 60%, especially the reduction of nocturnal episodic dyskinesias (80-90%). Objective scales revealed only a mild decrease of involuntary movements in all and reduced dystonia in one patient. DBS-induced effects were sustained up to 13 years after implantation. We demonstrate that treatment with pallidal DBS was effective in reducing nocturnal dyskinetic exacerbations in patients with ADCY5-related movement disorder, which was sustained over the long term.
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Registered trials
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