Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)

8 páginas, 2 tablas.

Detalles Bibliográficos
Autores: Martí Massó, J. F., Ruiz-Martínez, Javier, Paisán-Ruiz, J., Gorostidi, Ana, Bergareche, A., López de Munain, Adolfo, Alzualde, A., Pérez-Tur, Jordi
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2015
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/112315
Acceso en línea:http://hdl.handle.net/10261/112315
Access Level:acceso abierto
Palabra clave:Parkin
Early Onset Parkinsonism
Parkinson’s Disease
LRRK2
Dardarin
id ES_d3e0484ac12fd340ef21720196bd90fa
oai_identifier_str oai:digital.csic.es:10261/112315
network_acronym_str ES
network_name_str España
repository_id_str
spelling Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)Martí Massó, J. F.Ruiz-Martínez, JavierPaisán-Ruiz, J.Gorostidi, AnaBergareche, A.López de Munain, AdolfoAlzualde, A.Pérez-Tur, JordiParkinEarly Onset ParkinsonismParkinson’s DiseaseLRRK2Dardarin8 páginas, 2 tablas.We have performed a complete screening of the Parkin gene (PRKN2) and looked for p.Gly2019Ser (G2019S) and p.Arg1441Gly (R1441G) LRRK2/dardarin gene mutations in twenty seven patients with Parkinson’s disease (PD) with an age at onset younger than 50 years (EOPD), living in Gipuzkoa (Basque Country, Spain). Thirteen of them (48%) were PRKN2 mutation carriers. The c.255-256DelA mutation was the most frequent, followed by a deletion involving exons 3 and 4. A deletion involving exons 3 and 12 of the PRKN2 gene and R1441G LRRK2 mutation was found together in one PD patient. Four out of fourteen PRKN2 negative patients carried the p.G2019S mutation. Both PRKN2 mutation carriers and non-carriers presented frequently with family history (10 PRKN2 mutation carriers and 8 PRKN2 non-carriers); in fact, five patients without a known gene mutation had a first degree relative affected, suggesting another monogenic disease. PRKN2 carriers presented with a younger age at onset (36.7 vs. 41.7) and more benign disease progression. Indeed, those PD patients younger than forty who initially presented with unilateral tremor became shortly bilateral. Relatively, symmetric parkinsonism and slow disease progression carried more frequently PRKN2 mutations than patients with unilateral akinetic rigid parkinsonism and age at onset later than 40 years. As expected in a recessive disease, PRKN2 patients present more often with affected siblings and unaffected patients. The G2019S LRRK2 mutation, less prevalent than R1441G in our area, may be also a frequent cause of PD in EOPD (4 patients).Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III (PI070660), Eusko Jaurlaritza (Osasun Saila) (2006111003), Gipuzkoako Foru Aldundia, Fundación de Investigación Médica Mutua Madrileña, Ilundain Fundazioa.Peer reviewedScientific Research PublishingConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]201520152015info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/112315reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.4236/jbbs.2015.53010Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/1123152026-05-22T06:33:51Z
dc.title.none.fl_str_mv Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
title Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
spellingShingle Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
Martí Massó, J. F.
Parkin
Early Onset Parkinsonism
Parkinson’s Disease
LRRK2
Dardarin
title_short Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
title_full Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
title_fullStr Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
title_full_unstemmed Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
title_sort Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
dc.creator.none.fl_str_mv Martí Massó, J. F.
Ruiz-Martínez, Javier
Paisán-Ruiz, J.
Gorostidi, Ana
Bergareche, A.
López de Munain, Adolfo
Alzualde, A.
Pérez-Tur, Jordi
author Martí Massó, J. F.
author_facet Martí Massó, J. F.
Ruiz-Martínez, Javier
Paisán-Ruiz, J.
Gorostidi, Ana
Bergareche, A.
López de Munain, Adolfo
Alzualde, A.
Pérez-Tur, Jordi
author_role author
author2 Ruiz-Martínez, Javier
Paisán-Ruiz, J.
Gorostidi, Ana
Bergareche, A.
López de Munain, Adolfo
Alzualde, A.
Pérez-Tur, Jordi
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Parkin
Early Onset Parkinsonism
Parkinson’s Disease
LRRK2
Dardarin
topic Parkin
Early Onset Parkinsonism
Parkinson’s Disease
LRRK2
Dardarin
description 8 páginas, 2 tablas.
publishDate 2015
dc.date.none.fl_str_mv 2015
2015
2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/112315
url http://hdl.handle.net/10261/112315
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv http://dx.doi.org/10.4236/jbbs.2015.53010
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Scientific Research Publishing
publisher.none.fl_str_mv Scientific Research Publishing
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869420497841684480
score 15,811543

Similares en LA Referencia