Potential PINK1 Founder Effect in Polynesia Causing Early-Onset Parkinson's Disease

被引:11
作者
Patel, Shilpan G. [1 ]
Buchanan, Christina M. [1 ]
Mulroy, Eoin [1 ,2 ]
Simpson, Mark [1 ]
Reid, Hannah A. [3 ]
Drake, Kylie M. [3 ]
Merriman, Marilyn E. [4 ]
Phipps-Green, Amanda [4 ]
Cadzow, Murray [4 ]
Merriman, Tony R. [4 ,5 ]
Anderson, Neil E. [1 ]
Child, Nicholas [1 ]
Barber, P. Alan [1 ]
Roxburgh, Richard H. [1 ,6 ]
机构
[1] Auckland Hosp, Auckland, New Zealand
[2] UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England
[3] Canterbury Hlth Labs, Christchurch, New Zealand
[4] Univ Otago, Biochem Dept, Dunedin, New Zealand
[5] Univ Alabama Birmingham, Div Clin Immunol & Rheumatol, Birmingham, AL USA
[6] Univ Auckland, Ctr Brain Res Neurogenet Res Clin, Auckland, New Zealand
关键词
early onset Parkinson's disease; recessive genetic conditions; PINK1; dystonia; Polynesia; MUTATIONS;
D O I
10.1002/mds.28665
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:2199 / 2200
页数:2
相关论文
共 6 条
[1]  
Alcalay RN, 2010, ARCH NEUROL-CHICAGO, V67, P1116, DOI 10.1001/archneurol.2010.194
[2]   Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease [J].
Kilarski, Laura L. ;
Pearson, Justin P. ;
Newsway, Victoria ;
Majounie, Elisa ;
Knipe, M. Duleeka W. ;
Misbahuddin, Anjum ;
Chinnery, Patrick F. ;
Burn, David J. ;
Clarke, Carl E. ;
Marion, Marie-Helene ;
Lewthwaite, Alistair J. ;
Nicholl, David J. ;
Wood, Nicholas W. ;
Morrison, Karen E. ;
Williams-Gray, Caroline H. ;
Evans, Jonathan R. ;
Sawcer, Stephen J. ;
Barker, Roger A. ;
Wickremaratchi, Mirdhu M. ;
Ben-Shlomo, Yoav ;
Williams, Nigel M. ;
Morris, Huw R. .
MOVEMENT DISORDERS, 2012, 27 (12) :1522-1529
[3]   Ancient DNA and the human settlement of the Pacific: A review [J].
Matisoo-Smith, Elizabeth .
JOURNAL OF HUMAN EVOLUTION, 2015, 79 :93-104
[4]   Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease [J].
Rogaeva, E ;
Johnson, J ;
Lang, AE ;
Gulick, C ;
Gwinn-Hardy, K ;
Kawarai, T ;
Sato, C ;
Morgan, A ;
Werner, J ;
Nussbaum, R ;
Petit, A ;
Okun, MS ;
McInerney, A ;
Mandel, R ;
Groen, JL ;
Fernandez, HH ;
Postuma, R ;
Foote, KD ;
Salehi-Rad, S ;
Liang, Y ;
Reimsnider, S ;
Tandon, A ;
Hardy, J ;
St George-Hyslop, P ;
Singleton, AB .
ARCHIVES OF NEUROLOGY, 2004, 61 (12) :1898-1904
[5]   Defining Neurodegeneration on Guam by Targeted Genomic Sequencing [J].
Steele, John C. ;
Guella, Ilaria ;
Szu-Tu, Chelsea ;
Lin, Michelle K. ;
Thompson, Christina ;
Evans, Daniel M. ;
Sherman, Holly E. ;
Vilarino-Gueell, Carles ;
Gwinn, Katrina ;
Morris, Huw ;
Dickson, Dennis W. ;
Farrer, Matthew J. .
ANNALS OF NEUROLOGY, 2015, 77 (03) :458-468
[6]   PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases [J].
Tan, Ai Huey ;
Lohmann, Katja ;
Tay, Yi Wen ;
Lim, Jia Lun ;
Ahmad-Annuar, Azlina ;
Ramli, Norlisah ;
Chin, Yen Theng ;
Mawardi, Ahmad Shahir ;
Azmi, Khairul ;
Aziz, Zariah Abdul ;
Puvanarajah, Santhi Datuk ;
Bauer, Peter ;
Klein, Christine ;
Rolfs, Arndt ;
Lim, Shen-Yang .
PARKINSONISM & RELATED DISORDERS, 2020, 79 :34-39