TY - JOUR
T1 - Autosomal dominant Parkinson's disease
AU - Sundal, Christina
AU - Fujioka, Shinsuke
AU - Uitti, Ryan J.
AU - Wszolek, Zbigniew K.
N1 - Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2012/1
Y1 - 2012/1
N2 - Over the past two decades the understanding and classification of Parkinson's disease (PD) has been revolutionized by genetic research. Currently, sixteen PARK loci have been identified with autosomal dominant genes such as SNCA, and LRRK2, and autosomal recessive genes such as PRKN, DJ-1, and PINK1. Among these genes, LRRK2 is the most prevalent. Additionally, susceptibility variants located on some of these genes are widely recognized as risk factors for PD in certain ethnic populations. Alpha synuclein Lewy body (LB) pathology, the hallmark of sporadic PD, is predominantly seen in carriers of SNCA and LRRK2. Recently two new autosomal dominant PD genes have been discovered, eukaryotic translation initiation factor 4-gamma (EIF4G1) and vacuolar protein sorting 35 (VPS35). EIF4G1 is associated with LB pathology; however, only limited data currently exists on pathology of the VPS35. Thus, it remains to be seen if LB pathology can be identified on autopsy examination of carriers of VPS35 gene. The mechanism behind the cause of PD has yet to be elucidated; however, genetic studies on autosomal dominant PD have provided novel insights into the potential etiology of PD. Thus, paving the way for future targeted therapies aimed at disease prevention and cure.
AB - Over the past two decades the understanding and classification of Parkinson's disease (PD) has been revolutionized by genetic research. Currently, sixteen PARK loci have been identified with autosomal dominant genes such as SNCA, and LRRK2, and autosomal recessive genes such as PRKN, DJ-1, and PINK1. Among these genes, LRRK2 is the most prevalent. Additionally, susceptibility variants located on some of these genes are widely recognized as risk factors for PD in certain ethnic populations. Alpha synuclein Lewy body (LB) pathology, the hallmark of sporadic PD, is predominantly seen in carriers of SNCA and LRRK2. Recently two new autosomal dominant PD genes have been discovered, eukaryotic translation initiation factor 4-gamma (EIF4G1) and vacuolar protein sorting 35 (VPS35). EIF4G1 is associated with LB pathology; however, only limited data currently exists on pathology of the VPS35. Thus, it remains to be seen if LB pathology can be identified on autopsy examination of carriers of VPS35 gene. The mechanism behind the cause of PD has yet to be elucidated; however, genetic studies on autosomal dominant PD have provided novel insights into the potential etiology of PD. Thus, paving the way for future targeted therapies aimed at disease prevention and cure.
KW - Autosomal dominant genes
KW - EIF4g
KW - Genetics of parkinsonism
KW - LRRK2
KW - Parkinson's disease
KW - SNCA
KW - VPS35
UR - http://www.scopus.com/inward/record.url?scp=84857547632&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84857547632&partnerID=8YFLogxK
U2 - 10.1016/s1353-8020(11)70005-0
DO - 10.1016/s1353-8020(11)70005-0
M3 - Article
C2 - 22166459
AN - SCOPUS:84857547632
SN - 1353-8020
VL - 18
SP - S7-S10
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
IS - SUPPL. 1
ER -