Genetic susceptibility variants in parkinsonism

Abstract Parkinsonism is an umbrella term for a group of disorders characterized by the clinical signs of tremor, bradykinesia, rigidity, and postural instability. On neuropathologic examination parkinsonism can display alternate protein pathologies (e.g. α-synucleinopathy or tauopathy) but the dege...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2016-01, Vol.22 (1), p.S7-S11
Main Authors: Soto-Ortolaza, Alexandra I, Ross, Owen A
Format: Article
Language:English
Subjects:
Animals
Corticobasal degeneration
Dementia with Lewy bodies
Diagnosis, Differential
Genes
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Humans
Lewy Body Disease - diagnosis
Lewy Body Disease - genetics
Multiple system atrophy
Multiple System Atrophy - diagnosis
Multiple System Atrophy - genetics
Neurology
Parkinson's disease
Parkinsonian Disorders - diagnosis
Parkinsonian Disorders - genetics
Progressive supranuclear palsy
Supranuclear Palsy, Progressive - diagnosis
Supranuclear Palsy, Progressive - genetics
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Summary:Abstract Parkinsonism is an umbrella term for a group of disorders characterized by the clinical signs of tremor, bradykinesia, rigidity, and postural instability. On neuropathologic examination parkinsonism can display alternate protein pathologies (e.g. α-synucleinopathy or tauopathy) but the degeneration of nigral neurons is consistent. The main forms of parkinsonism are, Parkinson's disease (PD), Dementia with Lewy Bodies (DLB), Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD). Genetic studies from candidate gene, to unbiased genome-wide approaches including association and next-generation sequencing have nominated a number of disease determinants. Within this review we will highlight the genetic loci that are associated with disease and discuss the implications and importance for a better understanding of the genes involved and thus the underlying pathophysiology of these disorders.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2015.09.011