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α-Synucleinopathy phenotypes
Open accessAbstract
α-Synucleinopathies are neurodegenerative diseases characterised by the abnormal accumulation of α-synuclein aggregates in neurons, nerve fibres or glial cells. While small amounts of these α-synuclein pathologies can occur in some neurologically normal individuals who do not have associated neurodegeneration, the absence of neurodegeneration in such individuals precludes them from having a degenerative α-synucleinopathy, and it has yet to be established whether such individuals have a form of preclinical disease. There are three main types of α-synucleinopathy, Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), with other rare disorders also having α-synuclein pathologies, such as various neuroaxonal dystrophies. Multiple clinical phenotypes exist for each of the three main α-synucleinopathies, with these phenotypes differing in the dynamic distribution of their underlying neuropathologies. Identifying the factors involved in causing different α-synuclein phenotypes may ultimately lead to more targeted therapeutics as well as more accurate clinical prognosis.
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“In neurological disease and aging, modified proteins are the histopathological hallmarks of a number of diseases, such as SOD1 in amyotrophic lateral sclerosis (ALS) 56,57 , and a class of diseases long referred to as the proteinopathies 57 , including tauopathies in Alzheimer's disease 58 and inclusions of amyloidβ 59 , α -synuclein in Parkinson's 60,61 and multiple secondary ubiquitinopathies”
From How many human proteoforms are there? (2018) · cites this paper as [61]
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Metadata
- Authors
- McCann, H., Stevens, C. H., Cartwright, H., & Halliday, G. M.
- Affiliations
- Neuroscience Research Australia (AU)
- UNSW Sydney (AU)
- Corresponding author
- Halliday, Glenda M.
- Venue
- Parkinsonism & Related Disorders
- Publisher
- Elsevier BV
- Published
- 2014-01
- Volume
- 20
- Pages
- S62-S67
- ISSN
- 1353-8020 (ISSN-L)
- OpenAlex
- W2057784346
- Cited by
- 364
- References
- 32
- Citations by year
- 2026: 8 · 2025: 23 · 2024: 55 · 2023: 28 · 2022: 37 · 2021: 43 · 2020: 37 · 2019: 32 · 2018: 23 · 2017: 27 · 2016: 29 · 2015: 17 · 2014: 5
- FWCI
- 2.22
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- cc-by-nc-nd
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- Locations
- Parkinsonism & Related Disorders (publishedVersion)
- PubMed (publishedVersion)
- UNSWorks (University of New South Wales, Sydney, Australia) (submittedVersion, cc-by-nc-nd)
- Research Online (University of Wollongong) (submittedVersion)
- UNSWorks (UNSW Sydney) (submittedVersion, cc-by-nc-nd)
- Funders
- National Health and Medical Research Council (630434)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Receptors and Signaling
- Keywords
- synucleinopathies, alpha-synuclein aggregation
- MeSH terms
- Humans, Parkinson Disease, Phenotype, Multiple System Atrophy, Lewy Body Disease, alpha-Synuclein
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