title: Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.
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.
authors.affiliation: Unitat de Genètica Molecular, Departament de Genòmica i Proteòmica, Institut de Biomedicina de València-CSIC, E46010 València, Spain.
authors.forename: Coro
authors.initials: C
authors.lastname: Paisán-Ruíz
authors.forename: Shushant
authors.initials: S
authors.lastname: Jain
authors.forename: E Whitney
authors.initials: EW
authors.lastname: Evans
authors.forename: William P
authors.initials: WP
authors.lastname: Gilks
authors.forename: Javier
authors.initials: J
authors.lastname: Simón
authors.forename: Marcel
authors.initials: M
authors.lastname: van der Brug
authors.forename: Adolfo
authors.initials: A
authors.lastname: López de Munain
authors.forename: Silvia
authors.initials: S
authors.lastname: Aparicio
authors.forename: Angel Martínez
authors.initials: AM
authors.lastname: Gil
authors.forename: Naheed
authors.initials: N
authors.lastname: Khan
authors.forename: Janel
authors.initials: J
authors.lastname: Johnson
authors.forename: Javier Ruiz
authors.initials: JR
authors.lastname: Martinez
authors.forename: David
authors.initials: D
authors.lastname: Nicholl
authors.forename: Itxaso
authors.initials: I
authors.lastname: Martí Carrera
authors.forename: Amets Saénz
authors.initials: AS
authors.lastname: Pena
authors.forename: Rohan
authors.initials: R
authors.lastname: de Silva
authors.forename: Andrew
authors.initials: A
authors.lastname: Lees
authors.forename: José Félix
authors.initials: JF
authors.lastname: Martí-Massó
authors.forename: Jordi
authors.initials: J
authors.lastname: Pérez-Tur
authors.forename: Nick W
authors.initials: NW
authors.lastname: Wood
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D005260:Female; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; D011494:Protein Kinases; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases