ArticleMovement disorders : official journal of the Movement Disorder Society2019
Utility and implications of exome sequencing in early-onset Parkinson's disease.
Article in Movement disorders : official journal of the Movement Disorder Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 49 citations in OpenAlex.
- Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.Annals of clinical and translational neurology · 2026Article
- Hereditary Spastic Paraplegia Type 7 With Early-Onset Parkinsonism Responsive to Subthalamic Deep Brain Stimulation.Annals of Indian Academy of Neurology · 2025Article
- The Parkinson Disease-Associated Mutant DNAJC13(N855S) Leads to Its Accelerated Degradation and Negatively Affects Macroautophagy and Retromer Complex-Mediated Dynamics.Journal of cellular physiology · 2025Article
- Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.International journal of molecular sciences · 2025Review
- Phosphatase activity-based PPM1K: a key player in the regulation of mitochondrial function and its multifaceted impact in diseases.Molecular and cellular biochemistry · 2025Review
- Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.Movement disorders clinical practice · 2024Review
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- Next-generation sequencing and bioinformatics in rare movement disorders.Nature reviews. Neurology · 2024Review
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- Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.Brain : a journal of neurology · 2023Article
- Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).NPJ Parkinson's disease · 2023Article
- Genetics and Pathogenesis of Parkinson's Syndrome.Annual review of pathology · 2023Review
- A multicenter study of genetic testing for Parkinson's disease in the clinical setting.NPJ Parkinson's disease · 2022Article
- Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.Frontiers in aging neuroscience · 2022Article
- Astrocyte dysfunction in Parkinson's disease: from the perspectives of transmitted α-synuclein and genetic modulation.Translational neurodegeneration · 2021Review
- JWES: a new pipeline for whole genome/exome sequence data processing, management, and gene-variant discovery, annotation, prediction, and genotyping.FEBS open bio · 2021Article
- A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.Molecular genetics & genomic medicine · 2021Article
- Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease.Frontiers in neuroscience · 2021Article
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Authors and funding
19 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundAlthough the genetic load is high in early-onset Parkinson's disease, thorough investigation of the genetic diagnostic yield has yet to be established. The objectives of this study were to assess variants in known genes for PD and other movement disorders and to find new candidates in 50 patients with early-onset PD.
methodsWe searched for variants either within genes listed by the International Parkinson and Movement Disorder Society Task Force on Genetic Nomenclature or rare homozygous variants in novel candidate genes. Further, exome data from 1148 European PD patients (International Parkinson Disease Genomics Consortium) were used for association testing.
resultsSeven patients (14%) carried pathogenic or likely pathogenic variants in Parkin, PLA2G6, or GBA. In addition, rare missense variants in DNAJC13:p.R1830C and in PPM1K:p.Y352C were detected. SPG7:p.A510V and PPM1K:p.Y352C revealed significant association with PD risk (P < 0.05).
conclusionsAlthough we identified pathogenic variants in 14% of our early-onset PD patients, the majority remain unexplained, and novel candidates need to be validated independently to better further evaluate their role in PD. © 2018 International Parkinson and Movement Disorder Society.
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