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Review Article
- Fighting Against the Clock: Circadian Disruption and Parkinson’s Disease
- Yen-Chung Chen, Wei-Sheng Wang, Simon J G Lewis, Shey-Lin Wu
- J Mov Disord. 2024;17(1):1-14. Published online November 21, 2023
- DOI: https://doi.org/10.14802/jmd.23216
- 3,439 View
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Abstract
PDF - Circadian disruption is being increasingly recognized as a critical factor in the development and progression of Parkinson’s disease (PD). This review aims to provide an in-depth overview of the relationship between circadian disruption and PD by exploring the molecular, cellular, and behavioral aspects of this interaction. This review will include a comprehensive understanding of how the clock gene system and transcription–translation feedback loops function and how they are diminished in PD. The article also discusses the role of clock genes in the regulation of circadian rhythms, as well as the impact of clock gene dysregulation on mitochondrial function, oxidative stress, and neuroinflammation, including the microbiota-gut-brain axis, which have all been proposed as being crucial mechanisms in the pathophysiology of PD. Finally, this review highlights potential therapeutic strategies targeting the clock gene system and circadian rhythm for the treatment of PD.
Case Report
- Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother
- Wendi Wang, Baozhong Xin, Heng Wang
- J Mov Disord. 2020;13(2):150-153. Published online March 18, 2020
- DOI: https://doi.org/10.14802/jmd.19069
- 5,921 View
- 141 Download
- 1 Web of Science
- 2 Crossref
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Abstract
PDF
- Dopa-responsive dystonia (DRD) is a complex genetic disorder with either autosomal dominant or autosomal recessive inheritance, with autosomal dominant being more frequent. Autosomal dominant DRD is known to be caused by mutations in the GCH1 gene, with incomplete penetrance frequently reported, particularly in males. Here, we report a male patient with DRD caused by exon 1 deletion in the GCH1 gene inherited from the asymptomatic mother. The patient had an atypical presentation, notably with no dystonia, and underwent extensive workup for a myriad of neuromuscular disorders before a low-dose L-dopa trial and confirmatory genetic testing were performed. Our experience with this family highlights an atypical presentation of DRD and prompts us to consider the genetic complexity of DRD.
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Citations
Citations to this article as recorded by
- Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavallaro
Biomedicines.2023; 11(7): 1899. CrossRef - Study on Mechanism of Cumulative Directional Blasting of Brittle Karst Limestone in the Guizhou Province
Jie Hu, Yiping Zhang, Chengcheng Fang, Yusong Miao, Xin Zhao, Dengguo Liu, José António Fonseca de Oliveira Correia
Advances in Materials Science and Engineering.2023; 2023: 1. CrossRef
- Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
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