An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family
An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family
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DOI：
10.1002/ana.20484
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发表时间：
2005-06-01
影响因子：
11.2
通讯作者：
Obata, F
中科院分区：
文献类型：
--
作者：
Funayama, M;Hasegawa, K;Obata, F
我们在日本常染色体显性遗传性帕金森病家族成员(相模原氏家族)中发现了LRRK2基因激动域的错义突变，这是最初确定帕金森氏病基因座的基础。Sagamihara家族的研究结果，结合LRRK2基因产物以单纯黑质变性为特征的独特病理特征，为阐明LRRK2基因产物的蛋白质结构与致病关系提供了有价值的信息。我们没有在日本散发性帕金森病患者中检测到这种突变或LRRK2基因的其他已知突变。
We detected a missense mutation in the kinase domain of the LRRK2 gene in members with autosomal dominant Parkinson's disease of the Japanese family (the Sagamihara family) who served as the basis for the original defining of the PARK8 Parkinson's disease locus. The results of the Sagamihara family, in combination with the unique pathological features characterized by pure nigral degeneration without Lewy bodies, provided us with valuable information for elucidating the protein structure-pathogenesis relationship for the gene product of LRRK2. We did not detect this mutation or other known mutations of the LRRK2 gene in Japanese patients with sporadic Parkinson's disease.