ArticleMovement disorders : official journal of the Movement Disorder Society2014
Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.
Article in Movement disorders : official journal of the Movement Disorder Society, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022Review
- Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.Frontiers in aging · 2022Article
- Brain Somatic Mutation in Aging and Alzheimer's Disease.Annual review of genomics and human genetics · 2021Review
- Review
- Genetics of synucleins in neurodegenerative diseases.Acta neuropathologica · 2021Review
- Somatic TARDBP variants as a cause of semantic dementia.Brain : a journal of neurology · 2020Article
- Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.Human molecular genetics · 2019Article
- The role of de novo mutations in adult-onset neurodegenerative disorders.Acta neuropathologica · 2019Review
- OX40 Gene and Serum Protein Expression Profiles in Patients with Parkinson's Disease.Cell journal · 2018Article
- Somatic mutations in neurons during aging and neurodegeneration.Acta neuropathologica · 2018Review
- Inflammation in Parkinson's disease: role of glucocorticoids.Frontiers in neuroanatomy · 2015Review
- Hypothesis: somatic mosaicism and Parkinson disease.Experimental neurobiology · 2014Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
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Abstract
backgroundAlthough alpha-synuclein (SNCA) is crucial to the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB), mutations in the gene appear to be rare. We have recently hypothesized that somatic mutations in early development could contribute to PD.
methodsExpanding on our recent negative small study, we used high-resolution melting (HRM) analysis to screen SNCA coding exons for somatic point mutations in DNA from 539 PD and DLB cerebellar samples, with two additional regions (frontal cortex, substantia nigra) for 20 PD cases. We used artificial mosaics to determine sensitivity where possible.
resultsWe did not detect any evidence of somatic coding mutations. Three cases were heterozygous for known silent polymorphisms. The protocol we used was sensitive enough to detect 5% to 10% mutant DNA.
conclusionUsing DNA predominantly from cerebellum, but also from frontal cortex and substantia nigra (n = 20 each), we have not detected any somatic coding SNCA point mutations.
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