Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.

In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. Many cognitive alterations associated with idiopathic, late-onset Parkinson´s disease have been described; however, little attention has been paid to the des...

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Autores:: Moreno, Sonia
Buriticá, Omar
Franco, Alejandro
Pineda, Nicolás
Arias, William
Sepúlveda, Diego
Aguirre, Camilo
Tamayo, William
Uribe, Santiago
Bedoya, Gabriel
Ruiz-Linares, Andrés
Lopera, Francisco

Tipo de recurso:: Article of journal

Fecha de publicación:: 2010

Institución:: Universidad de San Buenaventura

Repositorio:: Repositorio USB

Idioma:: eng

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dc.title.spa.fl_str_mv	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
dc.title.translated.spa.fl_str_mv	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
title	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
spellingShingle	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y Parkin gene.
title_short	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
title_full	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
title_fullStr	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
title_full_unstemmed	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
title_sort	Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
dc.creator.fl_str_mv	Moreno, Sonia Buriticá, Omar Franco, Alejandro Pineda, Nicolás Arias, William Sepúlveda, Diego Aguirre, Camilo Tamayo, William Uribe, Santiago Bedoya, Gabriel Ruiz-Linares, Andrés Lopera, Francisco
dc.contributor.author.eng.fl_str_mv	Moreno, Sonia Buriticá, Omar Franco, Alejandro Pineda, Nicolás Arias, William Sepúlveda, Diego Aguirre, Camilo Tamayo, William Uribe, Santiago Bedoya, Gabriel Ruiz-Linares, Andrés Lopera, Francisco
dc.subject.eng.fl_str_mv	Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y Parkin gene.
topic	Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y Parkin gene.
description	In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. Many cognitive alterations associated with idiopathic, late-onset Parkinson´s disease have been described; however, little attention has been paid to the description of neuropsychological profiles in families carrying mutations in genes associated with juvenile Parkinson´s disease. For this study we selected a group of ten homozygous carriers of Parkin mutation C212Y with the clinical and a group of molecular diagnosis of Parkinson´s disease, and ten healthy relatives as controls. The neuropsychological evaluation revealed statistically significant differences between the two groups (p &lt; 0.05) in Minimental State Examination and in tests evaluating working memory and attention in which prolonged execution times and marked slowing down of information processing were observed. We suggest that the observed alterations could be considered as neuropsychological features of patients with the C212Y mutation in the Parkin gene, the phenotypic expression of which seems to be associated in this population with slow evolution, mild cognitive impairment and functional involvement.
publishDate	2010
dc.date.accessioned.none.fl_str_mv	2010-12-30T00:00:00Z 2025-07-31T16:11:15Z
dc.date.available.none.fl_str_mv	2010-12-30T00:00:00Z 2025-07-31T16:11:15Z
dc.date.issued.none.fl_str_mv	2010-12-30
dc.type.spa.fl_str_mv	Artículo de revista
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dc.identifier.doi.none.fl_str_mv	10.21500/20112084.812
dc.identifier.eissn.none.fl_str_mv	2011-7922
dc.identifier.issn.none.fl_str_mv	2011-2084
dc.identifier.uri.none.fl_str_mv	https://hdl.handle.net/10819/25691
dc.identifier.url.none.fl_str_mv	https://doi.org/10.21500/20112084.812
identifier_str_mv	10.21500/20112084.812 2011-7922 2011-2084
url	https://hdl.handle.net/10819/25691 https://doi.org/10.21500/20112084.812
dc.language.iso.eng.fl_str_mv	eng
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dc.relation.bitstream.none.fl_str_mv	https://revistas.usb.edu.co/index.php/IJPR/article/download/812/588
dc.relation.citationendpage.none.fl_str_mv	62
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dc.relation.ispartofjournal.eng.fl_str_mv	International Journal of Psychological Research
dc.relation.references.eng.fl_str_mv	B. Borróni.M.Turla, V. Vertáis, C Agosti, N. Gilberto, A. Padovani (2008). Cognitive and behavorial assessment in the early stages of neurodegnerative extrapyramidal síndromes.Archives of Gerontology and Geriatrics. 47(2008) 53-61 Bostantjopoulou, Z. Katsarou, A. Papadimitriou, V. Veletza, G. Hatzigeorgiou, A. Lees. (2001).Clinical Features of Parkinsonian Patients with the alfaSynuclein (G209A) Mutation. MovDisord 2001; 16:1007-1013. Braak H,Rüb U, Del Tredici K. E.Alonso-Prieto. (2003) Cognitive decline correlates with neuropathological stage in Parkinson's disease. J NeurolSci 2006; 248: 255-258 Crristopher I. Higginson, David S. King, Daw Levine, Vicki L. Wheelock,Nuny O. Khamphay, Karen A Sigvardta.(2003) The relationship between executive function and verbal memory in Parkinson’s disease. 2003 E.Alonso-Prieto, E.M. Esteban, C. Trujillo-Matienzo, G.E. Lara-Fernández,T. Roussó-Viota, A. Cordero-Eiriz.(2003) Alteraciones especificas de la atención en estadios tempranos de la enfermedad de Parkinson. Rev Neurología 2003;36(11):1015-1018 E. Lohmann, S. Thobois, S. Lesage, E. Broussolle, S. Tezenas du Montcel, M. J. Ribeiro, P. Remy, A. Pelissolo, B. Dubois, L. Mallet, P. Pollak, Y. Agid, A. Brice and E. Lohmann, S. Thobois, S. Lesage, E. Broussolle, S. Tezenas du Montcel. (2009) A multidisciplinary study of patients with early-onset PD with and without Parkin mutations. Neurology 2009;72;110-116
dc.rights.eng.fl_str_mv	International Journal of Psychological Research - 2010
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dc.publisher.eng.fl_str_mv	Universidad San Buenaventura - USB (Colombia)
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institution	Universidad de San Buenaventura
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spelling	Moreno, SoniaBuriticá, OmarFranco, AlejandroPineda, NicolásArias, WilliamSepúlveda, DiegoAguirre, CamiloTamayo, WilliamUribe, SantiagoBedoya, GabrielRuiz-Linares, AndrésLopera, Francisco2010-12-30T00:00:00Z2025-07-31T16:11:15Z2010-12-30T00:00:00Z2025-07-31T16:11:15Z2010-12-30In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. Many cognitive alterations associated with idiopathic, late-onset Parkinson´s disease have been described; however, little attention has been paid to the description of neuropsychological profiles in families carrying mutations in genes associated with juvenile Parkinson´s disease. For this study we selected a group of ten homozygous carriers of Parkin mutation C212Y with the clinical and a group of molecular diagnosis of Parkinson´s disease, and ten healthy relatives as controls. The neuropsychological evaluation revealed statistically significant differences between the two groups (p &lt; 0.05) in Minimental State Examination and in tests evaluating working memory and attention in which prolonged execution times and marked slowing down of information processing were observed. We suggest that the observed alterations could be considered as neuropsychological features of patients with the C212Y mutation in the Parkin gene, the phenotypic expression of which seems to be associated in this population with slow evolution, mild cognitive impairment and functional involvement.application/pdf10.21500/20112084.8122011-79222011-2084https://hdl.handle.net/10819/25691https://doi.org/10.21500/20112084.812engUniversidad San Buenaventura - USB (Colombia)https://revistas.usb.edu.co/index.php/IJPR/article/download/812/588622553International Journal of Psychological ResearchB. Borróni.M.Turla, V. Vertáis, C Agosti, N. Gilberto, A. Padovani (2008). Cognitive and behavorial assessment in the early stages of neurodegnerative extrapyramidal síndromes.Archives of Gerontology and Geriatrics. 47(2008) 53-61 Bostantjopoulou, Z. Katsarou, A. Papadimitriou, V. Veletza, G. Hatzigeorgiou, A. Lees. (2001).Clinical Features of Parkinsonian Patients with the alfaSynuclein (G209A) Mutation. MovDisord 2001; 16:1007-1013. Braak H,Rüb U, Del Tredici K. E.Alonso-Prieto. (2003) Cognitive decline correlates with neuropathological stage in Parkinson's disease. J NeurolSci 2006; 248: 255-258 Crristopher I. Higginson, David S. King, Daw Levine, Vicki L. Wheelock,Nuny O. Khamphay, Karen A Sigvardta.(2003) The relationship between executive function and verbal memory in Parkinson’s disease. 2003 E.Alonso-Prieto, E.M. Esteban, C. Trujillo-Matienzo, G.E. Lara-Fernández,T. Roussó-Viota, A. Cordero-Eiriz.(2003) Alteraciones especificas de la atención en estadios tempranos de la enfermedad de Parkinson. Rev Neurología 2003;36(11):1015-1018 E. Lohmann, S. Thobois, S. Lesage, E. Broussolle, S. Tezenas du Montcel, M. J. Ribeiro, P. Remy, A. Pelissolo, B. Dubois, L. Mallet, P. Pollak, Y. Agid, A. Brice and E. Lohmann, S. Thobois, S. Lesage, E. Broussolle, S. Tezenas du Montcel. (2009) A multidisciplinary study of patients with early-onset PD with and without Parkin mutations. Neurology 2009;72;110-116International Journal of Psychological Research - 2010info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-sa/4.0/https://revistas.usb.edu.co/index.php/IJPR/article/view/812Cognitive alterationsFamilial Parkinson´s diseaseJuvenile Parkinson´s diseaseMutationC212YParkin gene.Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.Artículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85Textinfo:eu-repo/semantics/articleJournal articleinfo:eu-repo/semantics/publishedVersionPublicationOREORE.xmltext/xml3096https://bibliotecadigital.usb.edu.co/bitstreams/b643d45c-27e2-41fa-80ad-04cbf5f6767f/download10fd479f58ab2f4d46d723a6f58bdee1MD5110819/25691oai:bibliotecadigital.usb.edu.co:10819/256912025-07-31 11:11:15.653https://creativecommons.org/licenses/by-nc-sa/4.0/https://bibliotecadigital.usb.edu.coRepositorio Institucional Universidad de San Buenaventura Colombiabdigital@metabiblioteca.com

Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.

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