Paisán-Ruíz Coro, Jain Shushant, Evans E Whitney, Gilks William P, Simón Javier, van der Brug Marcel, López de Munain Adolfo, Aparicio Silvia, Gil Angel Martínez, Khan Naheed, Johnson Janel, Martinez Javier Ruiz, Nicholl David, Martí Carrera Itxaso, Pena Amets Saénz, de Silva Rohan, Lees Andrew, Martí-Massó José Félix, Pérez-Tur Jordi, Wood Nick W, Singleton Andrew B
Unitat de Genètica Molecular, Departament de Genòmica i Proteòmica, Institut de Biomedicina de València-CSIC, E46010 València, Spain.
Neuron. 2004 Nov 18;44(4):595-600. doi: 10.1016/j.neuron.2004.10.023.
Parkinson's disease (PD; OMIM #168600) is the second most common neurodegenerative disorder in the Western world and presents as a progressive movement disorder. The hallmark pathological features of PD are loss of dopaminergic neurons from the substantia nigra and neuronal intracellular Lewy body inclusions. Parkinsonism is typically sporadic in nature; however, several rare familial forms are linked to genetic loci, and the identification of causal mutations has provided insight into the disease process. PARK8, identified in 2002 by Funayama and colleagues, appears to be a common cause of familial PD. We describe here the cloning of a novel gene that contains missense mutations segregating with PARK8-linked PD in five families from England and Spain. Because of the tremor observed in PD and because a number of the families are of Basque descent, we have named this protein dardarin, derived from the Basque word dardara, meaning tremor.
帕金森病（PD；OMIM #168600）是西方世界第二常见的神经退行性疾病，表现为进行性运动障碍。PD的标志性病理特征是黑质中多巴胺能神经元的丧失和神经元细胞内路易小体包涵体。帕金森症本质上通常是散发性的；然而，几种罕见的家族形式与基因位点相关，因果突变的鉴定为疾病过程提供了深入了解。2002年，船山及其同事鉴定出的PARK8似乎是家族性PD的常见病因。我们在此描述了一个新基因的克隆，该基因包含错义突变，在来自英格兰和西班牙的五个家族中与PARK8相关的PD共分离。由于在PD中观察到震颤，并且一些家族是巴斯克血统，我们将这种蛋白质命名为dardarin，源自巴斯克语单词dardara，意为震颤。
