TY - JOUR
T1 - Genetic susceptibility variants in parkinsonism
AU - Soto-Ortolaza, Alexandra I.
AU - Ross, Owen A.
N1 - Funding Information:
We would like to thank all those who have contributed to our research, particularly the patients and families who donated DNA samples for this work. We acknowledge the assistance of Krutika Satish Gaonkar of Mayo Clinic Health Sciences Research (Biomedical Statistics and Informatics). The Ross lab is supported by The Little Family Foundation, the Mangurian Foundation for Lewy body research, The Beaches Parkinson's Support Group Jacksonville, the Michael J. Fox Foundation, a Morris K. Udall Parkinson's Disease Research Center of Excellence ( NINDS P50NS072187 ), and NINDS R01NS078086 .
Publisher Copyright:
© 2015 Elsevier Ltd.
PY - 2016/1
Y1 - 2016/1
N2 - 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.
AB - 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.
KW - Corticobasal degeneration
KW - Dementia with Lewy bodies
KW - Genes
KW - Multiple system atrophy
KW - Parkinson's disease
KW - Progressive supranuclear palsy
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U2 - 10.1016/j.parkreldis.2015.09.011
DO - 10.1016/j.parkreldis.2015.09.011
M3 - Article
C2 - 26414118
AN - SCOPUS:84947863745
VL - 22
SP - S7-S11
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
SN - 1353-8020
ER -