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α-Synuclein and Parkinsonism: Updates and Future Perspectives

  • Kaie Rosborough
  • Neha Patel
  • Lorraine V. Kalia
Movement Disorders (S Fox, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Movement Disorders

Abstract

Mutations in the SNCA gene, which encodes the α-synuclein protein, were the first discovered genetic causes of familial parkinsonism with Lewy pathology. To date, six different SNCA missense mutations as well as multiplications are known to cause parkinsonism. For this review, we performed a literature search to identify all published cases of SNCA-related parkinsonism to provide an updated summary of the clinical and neuropathological features of parkinsonism due to SNCA mutations. Familial parkinsonism associated with SNCA is rare, but α-synuclein aggregation is a core feature of sporadic parkinsonism, including Parkinson’s disease, dementia with Lewy bodies, and multiple system atrophy. Research into α-synuclein and parkinsonism has impacted how we define the pathology and understand the pathogenesis of Parkinson’s disease and related neurodegenerative disorders. We briefly discuss some of the lessons we have learned from research into the physiological role of α-synuclein and its pathological links to neurodegeneration and parkinsonism.

Keywords

Dementia with Lewy bodies Lewy pathology Multiple system atrophy Parkinson’s disease Phenotype SNCA 

Notes

Acknowledgements

We thank Megha Duggal for proofreading the manuscript and tables.

Compliance with Ethical Standards

Conflict of Interest

Kaie Rosborough and Neha Patel declare that they have no conflict of interest.

Lorraine V. Kalia holds a Canadian Health Institutes of Research (CIHR) Clinician-Scientist Award; receives research support from the Natural Sciences and Engineering Research Council of Canada (NSERC), Michael J. Fox Foundation for Parkinson’s Research, J. P. Bickell Foundation, University of Toronto Centre for Collaborative Drug Research, and Toronto General & Western Hospital Foundation; and received research support from Parkinson’s UK and educational support from Allergan.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Kaie Rosborough
    • 1
  • Neha Patel
    • 1
  • Lorraine V. Kalia
    • 1
    • 2
    • 3
  1. 1.Krembil Research Institute, Toronto Western HospitalUniversity Health NetworkTorontoCanada
  2. 2.Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Division of Neurology, Department of Medicine, Toronto Western HospitalUniversity Health NetworkTorontoCanada
  3. 3.Division of Neurology, Department of Medicine and Tanz Centre for Research in Neurodegenerative DiseasesUniversity of TorontoTorontoCanada

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