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Comparative Study
. 2004 Nov 18;44(4):595-600.
doi: 10.1016/j.neuron.2004.10.023.

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

Coro Paisán-Ruíz  1 , Shushant Jain, E Whitney Evans, William P Gilks, Javier Simón, Marcel van der Brug, Adolfo López de Munain, Silvia Aparicio, Angel Martínez Gil, Naheed Khan, Janel Johnson, Javier Ruiz Martinez, David Nicholl, Itxaso Martí Carrera, Amets Saénz Pena, Rohan de Silva, Andrew Lees, José Félix Martí-Massó, Jordi Pérez-Tur, Nick W Wood, Andrew B Singleton
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Free article
Comparative Study

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

Coro Paisán-Ruíz et al. Neuron. .
Free article

Abstract

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.

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