G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients

被引:15
作者
Deng, H [1 ]
Le, WD [1 ]
Zhang, X [1 ]
Pan, TH [1 ]
Jankovic, J [1 ]
机构
[1] Baylor Coll Med, Parkinsons Dis Ctr & Movement Disorders Clin, Dept Neurol, Houston, TX 77030 USA
来源
ACTA NEUROLOGICA SCANDINAVICA | 2005年 / 111卷 / 06期
关键词
G309D; W437OPA; PINK1; Caucasian; Parkinson's disease;
D O I
10.1111/j.1600-0404.2005.00383.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective - To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD). Methods - We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients. Results - None of the 237 samples showed the G309D or W437OPA mutations. Conclusions - The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.
引用
收藏
页码:351 / 352
页数:2
相关论文
共 10 条
[1]   DJ-1 (PARK7), a novel gene for autosomal recessive, early onset parkinsonism [J].
Bonifati, V ;
Rizzu, P ;
Squitieri, F ;
Krieger, E ;
Vanacore, N ;
van Swieten, JC ;
Brice, A ;
van Duijn, CM ;
Oostra, B ;
Meco, G ;
Heutink, P .
NEUROLOGICAL SCIENCES, 2003, 24 (03) :159-160
[2]   Diagnostic criteria for Parkinson disease [J].
Gelb, DJ ;
Oliver, E ;
Gilman, S .
ARCHIVES OF NEUROLOGY, 1999, 56 (01) :33-39
[3]   The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism [J].
Healy, DG ;
Abou-Sleiman, PM ;
Ahmadi, KR ;
Muqit, MMK ;
Bhatia, KP ;
Quinn, NP ;
Lees, AJ ;
Latchmann, DS ;
Goldstein, DB ;
Wood, NW .
ANNALS OF NEUROLOGY, 2004, 56 (03) :329-335
[4]  
Healy DG, 2004, NEUROLOGY, V63, P1486
[5]   Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism [J].
Rohé, CF ;
Montagna, P ;
Breedveld, G ;
Cortelli, P ;
Oostra, BA ;
Bonifati, V .
ANNALS OF NEUROLOGY, 2004, 56 (03) :427-431
[6]   Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway [J].
Unoki, M ;
Nakamura, Y .
ONCOGENE, 2001, 20 (33) :4457-4465
[7]   Hereditary early-onset Parkinson's disease caused by mutations in PINK1 [J].
Valente, EM ;
Abou-Sleiman, PM ;
Caputo, V ;
Muqit, MMK ;
Harvey, K ;
Gispert, S ;
Ali, Z ;
Del Turco, D ;
Bentivoglio, AR ;
Healy, DG ;
Albanese, A ;
Nussbaum, R ;
González-Maldonaldo, R ;
Deller, T ;
Salvi, S ;
Cortelli, P ;
Gilks, WP ;
Latchman, DS ;
Harvey, RJ ;
Dallapiccola, B ;
Auburger, G ;
Wood, NW .
SCIENCE, 2004, 304 (5674) :1158-1160
[8]   Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 [J].
Valente, EM ;
Bentivoglio, AR ;
Dixon, PH ;
Ferraris, A ;
Ialongo, T ;
Frontali, M ;
Albanese, A ;
Wood, NW .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (04) :895-900
[9]   PINK1 mutations are associated with sporadic early-onset parkinsonism [J].
Valente, EM ;
Salvi, S ;
Ialongo, T ;
Marongiu, R ;
Elia, AE ;
Caputo, V ;
Romito, L ;
Albanese, A ;
Dallapiccola, B ;
Bentivoglio, AR .
ANNALS OF NEUROLOGY, 2004, 56 (03) :336-341
[10]   Genetic and environmental factors in the cause of Parkinson's disease [J].
Warner, TT ;
Schapira, AHV .
ANNALS OF NEUROLOGY, 2003, 53 :S16-S23