TY - JOUR
T1 - Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
AU - Paisán-Ruíz, Coro
AU - Jain, Shushant
AU - Evans, E. Whitney
AU - Gilks, William P.
AU - Simón, Javier
AU - Van Der Brug, Marcel
AU - De Munain, Adolfo López
AU - Aparicio, Silvia
AU - Gil, Angel Martínez
AU - Khan, Naheed
AU - Johnson, Janel
AU - Martinez, Javier Ruiz
AU - Nicholl, David
AU - Carrera, Itxaso Marti
AU - Peňa, Amets Saénz
AU - De Silva, Rohan
AU - Lees, Andrew
AU - Martí-Massó, José Félix
AU - Pérez-Tur, Jordi
AU - Wood, Nick W.
AU - Singleton, Andrew B.
N1 - Funding Information:
We would like to thank the patients and their families for participating in this research. We would like to thank Graham Lennox for aiding the family collection. A.B.S. would like to thank Drs. John Hardy and Mark Cookson for critical discussion of this manuscript. Thanks to the Reta Lila Weston Trust for Medical Research for funding S.J., A.L., and R.d.S. Thanks to the Parkinson's Disease Society for funding N.W.W. and D.N. Work at the laboratory of J.P.-T. was funded by a grant from the Fundación Ramón Areces (DI-TER PARKINSON) and from the Spanish Ministerio de Educación y Ciencia (GEN2001-4851-C06). C.P.-R. is a recipient of a fellowship from the Spanish Ministerio de Educación y Ciencia. J.S. is a recipient of a predoctoral I3P fellowship from the CSIC. J.P.-T. is a member of the Grupos de Excelencia network of the Generalitat Valenciana (GRUPOS03/015).
PY - 2004/11/18
Y1 - 2004/11/18
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=8844266996&partnerID=8YFLogxK
U2 - 10.1016/j.neuron.2004.10.023
DO - 10.1016/j.neuron.2004.10.023
M3 - Article
C2 - 15541308
AN - SCOPUS:8844266996
SN - 0896-6273
VL - 44
SP - 595
EP - 600
JO - Neuron
JF - Neuron
IS - 4
ER -