PLA2G6 中的 R632W 突变在一个伊朗血缘家族中与肌张力障碍-帕金森病共分离。
R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.
机构信息
Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.
出版信息
Eur J Neurol. 2009 Jan;16(1):101-4. doi: 10.1111/j.1468-1331.2008.02356.x.
BACKGROUND
PLA2G6 mutations are known to be responsible for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA). In addition, novel mutations in PLA2G6 have recently been associated with dystonia-parkinsonism in two unrelated consanguineous families.
METHODS
Direct sequencing analysis of the PLA2G6 gene.
RESULTS
Here, we report the segregation of R632W with disease in an Iranian consanguineous dystonia-parkinsonism pedigree. The identical mutation was previously observed in a patient affected with NBIA.
CONCLUSION
We conclude that different and even identical PLA2G6 mutations may cause neurodegenerative diseases with heterogeneous clinical manifestations, including INAD, NBIA and dystonia-parkinsonism.
背景
已知 PLA2G6 突变可导致婴儿神经轴索性营养不良（INAD）和伴有脑铁蓄积的神经变性（NBIA）。此外，最近 PLA2G6 的新突变与两个无血缘关系的近亲家族的肌张力障碍性帕金森病有关。
方法
PLA2G6 基因的直接测序分析。
结果
在这里，我们报道了 PLA2G6 基因的 R632W 突变与伊朗一个近亲遗传型肌张力障碍性帕金森病家系疾病的共分离。该相同的突变先前在一名患有 NBIA 的患者中观察到。
结论
我们的结论是，不同的甚至相同的 PLA2G6 突变可能导致具有不同临床表现的神经退行性疾病，包括 INAD、NBIA 和肌张力障碍性帕金森病。
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