ArticleNeurogenetics2017
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Article in Neurogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Oligomerization of transmembrane adenylyl cyclase isoforms.Molecular pharmacology · 2026Review
- Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.Parkinsonism & related disorders · 2023Article
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
- Physiological roles of mammalian transmembrane adenylyl cyclase isoforms.Physiological reviews · 2022Review
- Clinical Observation of Botulinum Toxin Injection in the Treatment of Focal Dystonia and Muscle Spasm.BioMed research international · 2022Article
- Genetic Dystonias: Update on Classification and New Genetic Discoveries.Current neurology and neuroscience reports · 2021Review
- Chorea in children: etiology, diagnostic approach and management.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.Movement disorders clinical practice · 2019Review
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
- Sleep inJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2019Article
- Paroxysmal Movement Disorders: Recent Advances.Current neurology and neuroscience reports · 2019Review
- Functional characterization of AC5 gain-of-function variants: Impact on the molecular basis of ADCY5-related dyskinesia.Biochemical pharmacology · 2019Article
- Adult-Onset Myoclonus-Dystonia Syndrome Preceding Characteristic Facial Myoclonus in IndianMovement disorders clinical practice · 2019Article
- Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.Journal of inherited metabolic disease · 2018Review
- Emerging Monogenic Complex Hyperkinetic Disorders.Current neurology and neuroscience reports · 2017Review
- Autosomal recessive inheritance ofNeurology. Genetics · 2017Article
- ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.Parkinsonism & related disorders · 2017Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not present in a local cohort of control exomes (n = 422). Further filtering based on predicted splicing effect, minor allele frequency in the 1000 Genomes Project and on phylogenetic conservation yielded 13 candidate variants, of which the heterozygous missense mutation c.3086T>G, p. M1029R in ADCY5 most closely matched the observed phenotype. This report illustrates the utility of whole-exome sequencing in cases of undiagnosed movement disorders with clear autosomal dominant inheritance. Moreover, ADCY5 mutations should be considered in cases with apparent myoclonus-dystonia, particularly where SCGE mutations have been excluded. ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes.
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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.