A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing

Movement Disorders : Official Journal of the Movement Disorder Society
Chin-Hsien LinRuey-Meei Wu

Abstract

Recent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian populations are largely unknown. The objective of this study was to identify the mutational frequencies and clinical spectrums of multiple PD-causative genes in a Taiwanese PD cohort. A total of 571 participants including 324 patients with early-onset parkinsonism (onset age, <50 years) and 247 parkinsonism pedigrees were recruited at a tertiary referral center in Taiwan from 2002 to 2017. Genetic causes were identified by an integrated approach including gene dosage analysis, a targeted next-generation sequencing panel containing 40 known PD-causative genes, repeat-primed polymerase chain reaction, and whole-exome sequencing analysis. Thirty of the 324 patients with early-onset parkinsonism (9.3%) were found to carry mutations in Parkin, PINK1, or PLA2G6 or had increased trinucleotide repeats in SCA8. Twenty-nine of 109 probands with autosomal-recessive inheritance of parkinsonism (26.6%) were found to carry mutations in Parkin, PINK1, GBA, or HTRA2. The genetic causes for the 138 probands w...Continue Reading

References

Nov 1, 1975·Journal of Psychiatric Research·M F FolsteinP R McHugh
Mar 1, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·A J HughesA J Lees
May 1, 1967·Neurology·M M Hoehn, M D Yahr
May 29, 2000·The New England Journal of Medicine·C B LückingUNKNOWN European Consortium on Genetic Susceptibility in Parkinson's Disease
Mar 29, 2002·Annals of Neurology·Shintaro HayashiHitoshi Takahashi
Nov 5, 2004·The New England Journal of Medicine·Judith Aharon-PeretzRuth Gershoni-Baruch
Jan 12, 2005·Archives of Neurology·Ruey-Meei WuMatt Farrer
Feb 1, 2005·Lancet·Alessio Di FonzoUNKNOWN Italian Parkinson Genetics Network
Jul 13, 2005·Neurology·V BonifatiUNKNOWN Italian Parkinson Genetics Network
Oct 22, 2005·Annals of Neurology·Suzanne LesageUNKNOWN French Parkinson's Disease Genetics Study Group
Jan 27, 2006·The New England Journal of Medicine·Laurie J OzeliusSusan B Bressman
Apr 20, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Hiroyuki TomiyamaNobutaka Hattori
Jun 24, 2006·Parkinsonism & Related Disorders·I-Sheng LinKatrina Gwinn-Hardy
Oct 28, 2006·Annals of Neurology·John HardyAndrew Singleton
Apr 19, 2007·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Chin-Hsien LinRuey-Meei Wu
Jun 11, 2008·Archives of Neurology·Ryuya KumazawaNobutaka Hattori
Jun 12, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Manabu FunayamaNobutaka Hattori
Nov 14, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Ming-Jen LeeRuey-Meei Wu
Nov 26, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Christopher G GoetzUNKNOWN Movement Disorder Society UPDRS Revision Task Force
May 8, 2009·Current Opinion in Genetics & Development·John HardyCoro Paisan-Ruiz
Mar 8, 2011·Nature Chemical Biology·Xianming DengNathanael S Gray
Jul 19, 2011·American Journal of Human Genetics·Carles Vilariño-GüellMatthew J Farrer
Sep 3, 2011·Lancet Neurology·Owen A RossUNKNOWN Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium
Jan 4, 2012·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Chin-Song LuTu-Hsueh Yeh
Feb 9, 2012·Cold Spring Harbor Perspectives in Medicine·Christine Klein, Ana Westenberger
Jul 4, 2012·Parkinsonism & Related Disorders·Rwei-Ling YuMau-Sun Hua
Sep 8, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Laura L KilarskiHuw R Morris
Jan 29, 2013·Neurobiology of Aging·Chin-Hsien LinRuey-Meei Wu
Oct 26, 2013·Nature Protocols·F Ann RanFeng Zhang
Nov 29, 2013·Journal of Clinical Neurology·Ji Sun KimJin Whan Cho
Dec 18, 2013·PloS One·Yih-Ru WuChiung-Mei Chen
May 8, 2014·Frontiers in Neurology·Chin-Hsien LinRuey-Meei Wu
Jun 30, 2014·Neurobiology of Aging·Taku HatanoNobutaka Hattori
Apr 14, 2015·BioMed Research International·Hyeyoung ParkBeom S Jeon
Apr 23, 2015·Journal of the Neurological Sciences·Milena Z JankovićVladimir S Kostić

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Citations

May 21, 2020·Molecular Neurobiology·Aida ZuluetaMarco Trinchera
Jul 3, 2020·Brain : a Journal of Neurology·Yuwen ZhaoBeisha Tang
Jul 18, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Yongping ChenHuifang Shang
May 31, 2020·Annals of Neurology·Suzanne LesageUNKNOWN French Parkinson disease Genetics Study Group (PDG)
Apr 29, 2020·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·Rutvi Prajapati, Isaac Arnold Emerson
Nov 4, 2020·Brain : a Journal of Neurology·Chin-Hsien LinRuey-Meei Wu
Jan 5, 2021·Frontiers in Neurology·Xin-Yue ZhouYi-Min Sun
Dec 30, 2020·Neuroscience Letters·Li-Hua YuQing Ke
Jan 16, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Chin-Hsien LinRuey-Meei Wu
Feb 14, 2021·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Jung-Lung HsuTa-Fu Chen
Nov 27, 2020·Neurobiology of Aging·Prabhjyot SainiZiv Gan-Or
Apr 11, 2020·Parkinsonism & Related Disorders·Sorina GorcencoAndreas Puschmann
Oct 14, 2020·Annals of Neurology·Suzanne LesageUNKNOWN French Parkinson Disease Genetics Study Group
Mar 21, 2021·Journal of Human Genetics·Yuhei KanayaHideshi Kawakami
Nov 30, 2020·Neurobiology of Aging·Konstantin SenkevichUNKNOWN International Parkinson's Disease Genomics Consortium (IPDGC)
Apr 11, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Qinghua LiPeng Sun
May 14, 2021·Frontiers in Neuroscience·Bin LiJinchen Li
Jun 8, 2021·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Meng-Chen WuChin-Hsien Lin
Aug 18, 2020·Life Sciences·Nan WangYufei Gao
Mar 30, 2021·Brain : a Journal of Neurology·Yu-Wen ZhaoJi-Feng Guo
Oct 9, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Francesca MagrinelliKailash P Bhatia
Dec 18, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Chin-Hsien LinMing-Shiang Wu
Jan 18, 2022·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Xiaoli HaoJuan Du

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