title: 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 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.
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA; Department of Biology, University of North Florida, Jacksonville, FL 32224, USA.
authors.forename: Alexandra I
authors.initials: AI
authors.lastname: Soto-Ortolaza
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA; Department of Biology, University of North Florida, Jacksonville, FL 32224, USA; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland; Mayo Graduate School, Neurobiology of Disease, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
mesh_terms: D000818:Animals; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D020961:Lewy Body Disease / Q000175:diagnosis / Q000235:genetics; D019578:Multiple System Atrophy / Q000175:diagnosis / Q000235:genetics; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000235:genetics*; D013494:Supranuclear Palsy, Progressive / Q000175:diagnosis / Q000235:genetics
keywords: Corticobasal degeneration; Dementia with Lewy bodies; Genes; Multiple system atrophy; Parkinson's disease; Progressive supranuclear palsy