Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9377057 | PMC |
| http://dx.doi.org/10.1186/s42466-022-00204-w | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Sleep and circadian rhythm dysfunctions in movement disorders beyond Parkinson's disease and atypical parkinsonisms.
Curr Opin Neurol
August 2024
Chulalongkorn Center of Excellence for Parkinson's Disease & Related Disorders, King Chulalongkorn Memorial Hospital, The Thai Red Cross, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Article Synopsis
- This review focuses on how sleep and circadian rhythm issues occur in various hyperkinetic movement disorders, not just Parkinson’s disease, including conditions like tremor, dystonia, and tics.
- Common sleep problems identified in these disorders include insomnia, poor sleep quality, excessive daytime sleepiness, and REM sleep behavior disorder, particularly noted in conditions like Wilson’s disease and spinocerebellar ataxia.
- It emphasizes the need to consider the impact of medications on sleep issues, and how specific symptoms can help differentiate between movement disorders when diagnosing.
Structure of adenylyl cyclase 5 in complex with Gβγ offers insights into ADCY5-related dyskinesia.
Nat Struct Mol Biol
August 2024
Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.
The nine different membrane-anchored adenylyl cyclase isoforms (AC1-9) in mammals are stimulated by the heterotrimeric G protein, Gα, but their response to Gβγ regulation is isoform specific. In the present study, we report cryo-electron microscope structures of ligand-free AC5 in complex with Gβγ and a dimeric form of AC5 that could be involved in its regulation. Gβγ binds to a coiled-coil domain that links the AC transmembrane region to its catalytic core as well as to a region (C) that is known to be a hub for isoform-specific regulation.
View Article and Find Full Text PDFADCY5-related dyskinesia - case series with literature review.
Neurol Neurochir Pol
April 2024
Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland.
Introduction: ADCY5-related dyskinesia is a rare neurological disease caused by mutations in the gene encoding the adenylyl cyclase 5 (ADCY5) isoform, a protein that plays an important role in intracellular transmission. Variants in ADCY5 are associated with a spectrum of neurological disease encompassing dyskinesia, chorea, and dystonia. State of the-art.
View Article and Find Full Text PDFCase report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.
Front Neurol
November 2023
Laboratoire de Biochimie et Biologie Moléculaire, Centre Hospitalier Universitaire, Angers, France.
Unlabelled: In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant in the argininosuccinate synthetase 1 () gene. However, the patient presented abnormal hyperkinetic movements with global developmental delay and clinical signs that were not fully consistent with those of citrullinemia type 1 or with those of her siblings with isolated citrullinemia type 1. Exome sequencing showed the presence of a heterozygous pathogenic variant in the adenylate cyclase type 5 () gene.
View Article and Find Full Text PDFBackground: Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onset disease resulting from pathogenic variants in the gene. The clinical features, diagnostic options, natural history, and treatments for this disease are poorly characterized and have never been established through a structured approach.
Objective: This scoping review attempts to summarize all available clinical literature on ADCY5-RMD.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!