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

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spelling	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 revista http://purl.org/coar/access_right/c_abf2 Inglés Journal article Text application/pdf Universidad San Buenaventura - USB (Colombia) International Journal of Psychological Research https://revistas.usb.edu.co/index.php/IJPR/article/view/812 https://creativecommons.org/licenses/by-nc-sa/4.0/ info:eu-repo/semantics/openAccess 2 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 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 International Journal of Psychological Research - 2010 Publication 3 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 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. Moreno, Sonia Buriticá, Omar Franco, Alejandro Pineda, Nicolás Arias, William Sepúlveda, Diego Aguirre, Camilo Tamayo, William Uribe, Santiago Bedoya, Gabriel Lopera, Francisco Ruiz-Linares, Andrés Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y https://doi.org/10.21500/20112084.812 10.21500/20112084.812 2011-7922 55 62 2011-2084 https://revistas.usb.edu.co/index.php/IJPR/article/download/812/588 2010-12-30 2010-12-30T00:00:00Z 2010-12-30T00:00:00Z
institution	UNIVERSIDAD DE SAN BUENAVENTURA
thumbnail	https://nuevo.metarevistas.org/UNIVERSIDADDESANBUENAVENTURA_COLOMBIA/logo.png
country_str	Colombia
collection	International Journal of Psychological Research
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. Moreno, Sonia Buriticá, Omar Franco, Alejandro Pineda, Nicolás Arias, William Sepúlveda, Diego Aguirre, Camilo Tamayo, William Uribe, Santiago Bedoya, Gabriel Lopera, Francisco Ruiz-Linares, Andrés Parkin gene. Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y
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.
description_eng	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.
author	Moreno, Sonia Buriticá, Omar Franco, Alejandro Pineda, Nicolás Arias, William Sepúlveda, Diego Aguirre, Camilo Tamayo, William Uribe, Santiago Bedoya, Gabriel Lopera, Francisco Ruiz-Linares, Andrés
author_facet	Moreno, Sonia Buriticá, Omar Franco, Alejandro Pineda, Nicolás Arias, William Sepúlveda, Diego Aguirre, Camilo Tamayo, William Uribe, Santiago Bedoya, Gabriel Lopera, Francisco Ruiz-Linares, Andrés
topic	Parkin gene. Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y
topic_facet	Parkin gene. Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y
citationvolume	3
citationissue	2
publisher	Universidad San Buenaventura - USB (Colombia)
ispartofjournal	International Journal of Psychological Research
source	https://revistas.usb.edu.co/index.php/IJPR/article/view/812
language	Inglés
format	Article
rights	http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc-sa/4.0/ info:eu-repo/semantics/openAccess International Journal of Psychological Research - 2010
references_eng	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
type_driver	info:eu-repo/semantics/article
type_coar	http://purl.org/coar/resource_type/c_6501
type_version	info:eu-repo/semantics/publishedVersion
type_coarversion	http://purl.org/coar/version/c_970fb48d4fbd8a85
type_content	Text
publishDate	2010-12-30
date_accessioned	2010-12-30T00:00:00Z
date_available	2010-12-30T00:00:00Z
url	https://revistas.usb.edu.co/index.php/IJPR/article/view/812
url_doi	https://doi.org/10.21500/20112084.812
issn	2011-2084
eissn	2011-7922
doi	10.21500/20112084.812
citationstartpage	55
citationendpage	62
url2_str_mv	https://revistas.usb.edu.co/index.php/IJPR/article/download/812/588
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Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. .

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