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Moreno, S., Garcia, G., Saldarriaga, A., Sepulveda-Falla, D., Arboleda, J., kosik, K., & Lopera, F. (2010). Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R. International Journal of Psychological Research, 3(2), 109–122. https://doi.org/10.21500/20112084.817
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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
Even though cognitive impairment in brain vascular disease has been widely described, there is not much known about specific neuropsychological profiles in affected families suffering from hereditary vascular dementia CADASIL. In Colombia we have reported for the first time two large kindreds suffering from CADASIL in the Antioquia region (Colombia). Those families carry mutations R1031C and C455R in notch 3 gene, respectively. In this study, we have develop a comparative analysis between 16 affected carriers of R1031C (family A) and 7 affected carriers of mutation C455R (family B). This includes a description of cognitive performance in these two groups applying specific protocols evaluating several cognitive functions, depression and everyday functionality. Analysis showed differences in age of onset, evolution time, dementia diagnosis and degree of leukoencephalopaty between R1031C and C455R carriers. Statistically significant differences were found in tests evaluating multiple cognitive domains with higher prevalence of cognitive impairment and dementia in R1031C carriers (p<0.05). There were not statistically significant differences in tests evaluating sustained attention, abstract reasoning, semantical and phonological fluence, reading, arithmetic, executive functions, depression scales and functional scales.
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References
Amberla K, Waljas M, Tuominen S, Almkvist O, Poyhonen M, Tuisku S(2004). Insidious cognitive decline in CADASIL. Stroke. 35(7):1598-1602.
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disordes. 4Th Revision ed. Washington DC: 1994
Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE(2002). C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology .59(2):277-279.
Blanco MR, Aguado Balsas AM,Blanco,E,Lobo RB,Vera DLP (2001). The Cadasil síndrome: a model of subcortical-cortical disconnection. Rev Neurol;32(8):750-754
Birkett,D. Meter(1998) Psiquiatría clínica y accidente cerebrovascular cerebral. Editorial Masson. España. Pag 7-9.
Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger (1998). The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol . 44(5):731-739Uribe CS, Jimenez I, Mora MO, Arana A, Sanchez JL, Zuluaga L et al. (1997) Epidemiology of cerebrovascular diseases in Sabaneta, Colombia . Rev Neurol . 25(143):1008-1012.
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disordes. 4Th Revision ed. Washington DC: 1994
Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE(2002). C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology .59(2):277-279.
Blanco MR, Aguado Balsas AM,Blanco,E,Lobo RB,Vera DLP (2001). The Cadasil síndrome: a model of subcortical-cortical disconnection. Rev Neurol;32(8):750-754
Birkett,D. Meter(1998) Psiquiatría clínica y accidente cerebrovascular cerebral. Editorial Masson. España. Pag 7-9.
Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger (1998). The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol . 44(5):731-739Uribe CS, Jimenez I, Mora MO, Arana A, Sanchez JL, Zuluaga L et al. (1997) Epidemiology of cerebrovascular diseases in Sabaneta, Colombia . Rev Neurol . 25(143):1008-1012.
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