ArticleMovement disorders : official journal of the Movement Disorder Society2013
Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.
Article in Movement disorders : official journal of the Movement Disorder Society, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 84 citations in OpenAlex.
- Impact of Particulate Matter 2.5 on Neurological Diseases: Insights Into Pathophysiological and Molecular Mechanisms.Journal of toxicology · 2025Review
- Analysis and comparison of post-translational modifications of α-synuclein filaments in multiple system atrophy and dementia with Lewy bodies.Scientific reports · 2024Article
- Non-invasive systemic viral delivery of human alpha-synuclein mimics selective and progressive neuropathology of Parkinson's disease in rodent brains.Molecular neurodegeneration · 2023Article
- Rotenone-Induced Model of Parkinson's Disease: Beyond Mitochondrial Complex I Inhibition.Molecular neurobiology · 2023Review
- 6-Hydroxydopamine-Induced Neurotoxicity in Rat Model of Parkinson's Disease: Is Reversed via Anti-Oxidative Activities of Curcumin and Aerobic Exercise Therapy.Physiological research · 2022Article
- Effects of oligomer toxicity, fibril toxicity and fibril spreading in synucleinopathies.Cellular and molecular life sciences : CMLS · 2022Review
- Review
- Brain Somatic Mutation in Aging and Alzheimer's Disease.Annual review of genomics and human genetics · 2021Review
- Synuclein Family Members Prevent Membrane Damage by Counteracting α-Synuclein Aggregation.Biomolecules · 2021Article
- Review
- Role of SNAREs in Neurodegenerative Diseases.Cells · 2021Review
- Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.Brain communications · 2021Article
- Lipids: Key Players That Modulate α-Synuclein Toxicity and Neurodegeneration in Parkinson's Disease.International journal of molecular sciences · 2020Review
- Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease.Frontiers in neurology · 2020Article
- Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.Acta neuropathologica communications · 2019Article
- Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.Human molecular genetics · 2019Article
- CRISPR/Cas9-Mediated Generation of Guangxi Bama Minipigs Harboring Three Mutations in α-Synuclein Causing Parkinson's Disease.Scientific reports · 2018Article
- Somatic mutations in neurons during aging and neurodegeneration.Acta neuropathologica · 2018Review
- Oleuropein aglycone stabilizes the monomeric α-synuclein and favours the growth of non-toxic aggregates.Scientific reports · 2018Article
- Subcellular Parkinson's Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration.Molecular neurobiology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Alpha-synuclein (SNCA) is crucial in the pathogenesis of Parkinson's disease (PD), yet mutations in the SNCA gene are rare. Evidence for somatic genetic variation in normal humans, also involving the brain, is increasing, but its role in disease is unknown. Somatic SNCA mutations, arising in early development and leading to mosaicism, could contribute to PD pathogenesis and yet be absent or undetectable in DNA derived from peripheral lymphocytes. Such mutations could underlie the widespread pathology in PD, with the precise clinical outcome dependent on their type and the timing and location of their occurrence. We recently reported a novel SNCA mutation (c.150T>G, p.H50Q) in PD brain-derived DNA. To determine if there was mosaicism for this, a PCR and cloning strategy was used to take advantage of a nearby heterozygous intronic polymorphism. No evidence of mosaicism was found. High-resolution melting curve analysis of SNCA coding exons, which was shown to be sensitive enough to detect low proportions of 2 known mutations, did not reveal any further mutations in DNA from 28 PD brain-derived samples. We outline the grounds that make the somatic SNCA mutation hypothesis consistent with genetic, embryological, and pathological data. Further studies of brain-derived DNA are warranted and should include DNA from multiple regions and methods for detecting other types of genomic variation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.