Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease
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DOI：
10.1016/j.neulet.2004.12.061
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发表时间：
2005-05-13
影响因子：
2.5
通讯作者：
Hörtnagel, K
中科院分区：
文献类型：
--
作者：
Klopstock, T;Elstner, M;Hörtnagel, K
泛酸激酶相关神经退行性变（PKAN）可能作为帕金森病（PD）的模型，因为许多PKAN患者患有帕金森病，这两种疾病都会导致基底节区铁积累。我们筛选了PD中泛酸激酶2 （PANK2）的基因编码序列变异。我们在67例患有患病兄弟姐妹或早发性疾病的PD患者中未发现突变。此外，在339例患者中，PANK2多态性与迟发性特发性PD无关。我们得出结论，PANK2变异对帕金森病的遗传风险只有很小的影响。©2005爱思唯尔爱尔兰公司版权所有。
Pantothenate kinase-associated neurodegeneration (PKAN) may serve as a model for Parkinson disease (PD) since many PKAN patients suffer from parkinsonism and both conditions lead to iron accumulation in the basal ganglia. We screened the gene coding for pantothenate kinase 2 (PANK2) for sequence variants in PD. We found no mutations in 67 PD patients with affected sibs or early-onset disease. Moreover, PANK2 polymorphisms were not associated with late-onset idiopathic PD in 339 patients. We conclude that PANK2 variants exert, if any, only a very small effect in the genetic risk of PD. © 2005 Elsevier Ireland Ltd. All rights reserved.