Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early-Onset Parkinson's Disease.

Movement Disorders : Official Journal of the Movement Disorder Society
Yongping ChenHuifang Shang

Abstract

Defects in the α-synuclein, leucine-rich repeat kinase 2, or glucocerebrosidase genes have been regarded as essential contributors to PD. However, genetic variability of these genes with respect to early-onset PD remains poorly defined for the Chinese demographic. We aim to systematically characterize the clinical and genetic architecture of α-synuclein, leucine-rich repeat kinase 2, and glucocerebrosidase in Chinese early-onset PD patients. Whole-exome sequencing and Sanger sequencing were used to identify variants of α-synuclein, leucine-rich repeat kinase 2, and glucocerebrosidase in 662 Chinese early-onset PD patients. Haplotype and burden analyses were conducted to investigate the role of rare variants of these three genes in early-onset PD. Sixty rare variants, including 23 novel variants, were identified in 73 patients (11.0%). Frequencies of patients with rare pathogenic/likely pathogenic variants of α-synuclein, leucine-rich repeat kinase 2, and glucocerebrosidase were 0.6%, 3.0%, and 5.4%, respectively. Evidences of two founder events exclusive to Asians were identified in 2 patients with leucine-rich repeat kinase 2 p.R1441C and 3 patients with α-synuclein p.A53V. Gene-based burden analysis supported glucocerebrosida...Continue Reading

References

Mar 1, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·A J HughesA J Lees
May 1, 1997·Movement Disorders : Official Journal of the Movement Disorder Society·G Gomez ArevaloO Gershanik
Jul 13, 2005·Neurology·V BonifatiUNKNOWN Italian Parkinson Genetics Network
Sep 21, 2005·Neurogenetics·Ignacio F MataMatthew J Farrer
May 23, 2006·Lancet Neurology·Lonneke M L de Lau, Monique M B Breteler
Apr 10, 2009·Journal of Medical Genetics·S LesageUNKNOWN French Parkinson's Disease Genetics Study Group
Jan 14, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Mirdhu M WickremaratchiHuw R Morris
Oct 20, 2012·Lancet Neurology·Ellen Sidransky, Grisel Lopez
Dec 10, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M BoziL Stefanis
Jul 21, 2015·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Leslie Wayne FergusonAlexander Rajput
Oct 17, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Ronald B PostumaGünther Deuschl
May 6, 2016·Annual Review of Genomics and Human Genetics·Dan L Nicolae
Dec 26, 2016·Parkinsonism & Related Disorders·Avner ThalerAnat Mirelman
Jul 2, 2017·Neurobiology of Aging·Hiroyo YoshinoNobutaka Hattori
Jan 31, 2018·Journal of Neurology, Neurosurgery, and Psychiatry·Naveed MalekUNKNOWN PRoBaND clinical consortium
Apr 29, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·S Pablo SardiPatrik Brundin
May 3, 2018·Frontiers in Aging Neuroscience·Xian-Si ZengPeng-Peng Zhang
Jul 28, 2018·Neurobiology of Aging·Jin-Ru ZhangChun-Feng Liu
Sep 25, 2018·Revue neurologique·A LunatiA Brice
Feb 23, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Chin-Hsien LinRuey-Meei Wu
Jul 22, 2019·Brain : a Journal of Neurology·Manuela M X TanHuw R Morris
Aug 21, 2019·Translational Neurodegeneration·Shirley Yin-Yu PangShu-Leong Ho
Sep 16, 2019·Lancet Neurology·Cornelis BlauwendraatAndrew B Singleton
Mar 17, 2020·Neurobiology of Aging·Nannan LiRong Peng

❮ Previous
Next ❯

Citations

Nov 17, 2020·Frontiers in Aging Neuroscience·Xinyao Liu, Weidong Le
Feb 23, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Hui LiuThomas Gasser
Aug 31, 2021·Frontiers in Aging Neuroscience·Yi GuoHao Deng
Sep 22, 2021·Journal of Medical Genetics·Yong-Ping ChenHui-Fang Shang
Oct 2, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Silvia Paola CaminitiDaniela Perani

❮ Previous
Next ❯

Related Concepts

Related Feeds

Alpha-Synuclein Aggregation (MDS)

Alpha-synucleins are small proteins that are believed to restrict the mobility of synpatic vesicles and inhibit neurotransmitter release. Aggregation of these proteins have been linked to several types of neurodegenerative diseases including dementia with Lewy bodies and Parkinson's disease. Here is the latest research on α-synuclein aggregation.