Funayama Manabu, Hasegawa Kazuko, Ohta Etsuro, Kawashima Noriko, Komiyama Masaru, Kowa Hisayuki, Tsuji Shoji, Obata Fumiya
Division of Clinical Immunology, Kitasato University Graduate School of Medical Sciences, Tokyo, Japan.
Ann Neurol. 2005 Jun;57(6):918-21. doi: 10.1002/ana.20484.
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.
我们在作为PARK8帕金森病基因座最初定义基础的日本家族（相模原家族）的常染色体显性帕金森病成员中，检测到了LRRK2基因激酶结构域中的一个错义突变。相模原家族的研究结果，结合以无路易小体的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-发病机制关系提供了有价值的信息。我们在散发性帕金森病的日本患者中未检测到该突变或LRRK2基因的其他已知突变。
