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Moreno, S., Buriticá, O., Franco, A., Pineda, N., Arias, W., Sepúlveda, D., Aguirre, C., Tamayo, W., Uribe, S., Bedoya, G., Ruiz-Linares, A., & Lopera, F. (2010). Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. International Journal of Psychological Research, 3(2), 55–62. https://doi.org/10.21500/20112084.812
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The editorial board reserves the right of amendments deemed necessary in the application of the rules of publication.
To give up copyright, the authors allow that, International Journal of Psychological Research, distribute the work more broadly, check for the reuse by others and take care of the necessary procedures for the registration and administration of copyright; at the same time, our editorial board represents the interests of the author and allows authors to re-use his work in various forms. In response to the above, authors transfer copyright to the journal, International Journal of Psychological Research. This transfer does not imply other rights which are not those of authorship (for example those that concern about patents). Likewise, preserves the authors rights to use the work integral or partially in lectures, books and courses, as well as make copies for educational purposes. Finally, the authors may use freely the tables and figures in its future work, wherever make explicit reference to the previous publication in International Journal of Psychological Research. The assignment of copyright includes both virtual rights and forms of the article to allow the editorial to disseminate the work in the manner which it deems appropriate.
The editorial board reserves the right of amendments deemed necessary in the application of the rules of publication.
Abstract
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 < 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.
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References
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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
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
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