A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype

被引:0
|
作者
C. Pirkevi
S. Lesage
C. Condroyer
H. Tomiyama
N. Hattori
S. Ertan
A. Brice
A. N. Başak
机构
[1] Boğaziçi University,Molecular Biology and Genetics Department, Neurodegeneration Research Laboratory
[2] INSERM,Department of Neurology
[3] UMR S679,Department of Neurology, Cerrahpaşa Faculty of Medicine
[4] Pierre et Marie Curie-Paris6 University,Pitié
[5] UMR S679,Salpêtrière Medical School
[6] Pitié-Salpêtrière,Department of Genetics and Cytogenetics, AP
[7] Federative Institute for Neuroscience Research,HP
[8] IFR 070,undefined
[9] Pitié-Salpêtrière,undefined
[10] Juntendo University School of Medicine,undefined
[11] University of Istanbul,undefined
[12] Pierre and Marie Curie-Paris6 University,undefined
[13] Pitié-Salpêtrière Hospital,undefined
来源
neurogenetics | 2009年 / 10卷
关键词
Parkinson’s disease; Genetics; LRRK2; Haplotype;
D O I
暂无
中图分类号
学科分类号
摘要
The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.
引用
收藏
页码:271 / 273
页数:2
相关论文
共 50 条
  • [31] Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
    Tiziana Squillaro
    Franca Cambi
    Giuseppe Ciacci
    Simone Rossi
    Monica Ulivelli
    Alessandro Malandrini
    Maria Antonietta Mencarelli
    Francesca Mari
    Alessandra Renieri
    Francesca Ariani
    Journal of Human Genetics, 2007, 52 : 201 - 204
  • [32] Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson's disease
    Chien, Hsin Fen
    Figueiredo, Tamires Rocha
    Hollaender, Marianna Almeida
    Tofoli, Fabiano
    Takada, Leonel Tadao
    Pereira, Lygia do Veiga
    Barbosa, Egberto Reis
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2014, 72 (05) : 356 - 359
  • [33] Increased Phospho-AKT in Blood Cells from LRRK2 G2019S Mutation Carriers
    Garrido, Alicia
    Perez-Sisques, Leticia
    Simonet, Cristina
    Campoy-Campos, Genis
    Solana-Balaguer, Julia
    Martin-Flores, Nuria
    Fernandez, Manel
    Soto, Marta
    Obiang, Donina
    Camara, Ana
    Valldeoriola, Francesc
    Munoz, Esteban
    Compta, Yaroslau
    Perez-Navarro, Esther
    Alberch, Jordi
    Tolosa, Eduardo
    Marti, Maria-Jose
    Ezquerra, Mario
    Malagelada, Cristina
    Fernandez-Santiago, Ruben
    ANNALS OF NEUROLOGY, 2022, 92 (05) : 888 - 894
  • [34] The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: Clinical and demographic characteristics
    Mabel Gatto, Emilia
    Parisi, Virginia
    Paola Converso, Daniela
    Jose Poderoso, Juan
    Cecilia Carreras, Maria
    Felix Marti-Masso, Jose
    Paisan-Ruiz, Coro
    NEUROSCIENCE LETTERS, 2013, 537 : 1 - 5
  • [35] Substantia Nigra Hyperechogenicity with LRRK2 G2019S Mutations
    Brueggemann, Norbert
    Hagenah, Johann
    Stanley, Kaili
    Klein, Christine
    Wang, Cuiling
    Raymond, Deborah
    Ozelius, Laurie
    Bressman, Susan
    Saunders-Pullman, Rachel
    MOVEMENT DISORDERS, 2011, 26 (05) : 885 - 888
  • [36] LRRK2 G2019S in the North African Population: A Review
    Benamer, Hani T. S.
    de Silva, Rajith
    EUROPEAN NEUROLOGY, 2010, 63 (06) : 321 - 325
  • [37] Increased Free Water in the Substantia Nigra in Asymptomatic LRRK2 G2019S Mutation Carriers
    Zhang, Dongling
    Zhou, Liche
    Shi, Yuting
    Liu, Jun
    Wei, Hongjiang
    Tong, Qiqi
    He, Hongjian
    Wu, Tao
    MOVEMENT DISORDERS, 2023, 38 (01) : 138 - 142
  • [38] Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort
    Landoulsi, Zied
    Benromdhan, Sawssan
    Ben Djebara, Mouna
    Damak, Mariem
    Dallali, Hamza
    Kefi, Rym
    Abdelhak, Sonia
    Gargouri-Berrechid, Amina
    Mhiri, Chokri
    Gouider, Riadh
    BMC MEDICAL GENETICS, 2017, 18
  • [39] The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease:: Phenotype in monozygotic twins
    Munhoz, Renato P.
    Wakutani, Yosuke
    Marras, Connie
    Teive, Helio A.
    Raskin, Salmo
    Werneck, Lineu C.
    Moreno, Danielle
    Sato, Christine
    Lang, Anthony E.
    Rogaeva, Ekaterina
    MOVEMENT DISORDERS, 2008, 23 (02) : 290 - 294
  • [40] LRRK2 G2019S Mutation Inhibits Degradation of α-Synuclein in an In Vitro Model of Parkinson’s Disease
    Dan Hu
    Jian-yi Niu
    Jing Xiong
    Shu-ke Nie
    Fei Zeng
    Zhao-hui Zhang
    Current Medical Science, 2018, 38 : 1012 - 1017