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Zuluaga Castaño, Y., Montoya-Arenas, D. A., Velilla, L., Ospina, C., Arboleda-Velasquez, J. F., Quiroz, Y. T., & Lopera, F. (2018). Cognitive performance in asymptomatic carriers of mutations R1031C and R141C in CADASIL. International Journal of Psychological Research, 11(2), 46–55. https://doi.org/10.21500/20112084.3373
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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
CADASIL is the most common hereditary cause of repeated ischemic strokes, and has also been identified as a model of pure vascular dementia. The objective of this study was to establish the cognitive performance of asymptomatic carriers with the mutations R1031C and R141C. This observational cross-sectional analytical study divided subjects into three groups: asymptomatic carriers of the R1031C mutation (n = 39), asymptomatic carries of the R141C mutation (n = 8) and non-carriers (n = 50). Statistically significant differences were found (p <0.05) between the group of the R1031C mutation and the non-carriers in constructional praxis, executive function and abstract reasoning. For the R141C mutation, scores below expected values in executive function and mental calculation were observed. It is concluded that asymptomatic carriers of the two mutations showed low performance in working memory, mental abstraction and processing speed, which could be associated with preclinical cognitive biomarkers preceding the presentation of the first vascular event.
Keywords:
References
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Di Donato, I., Bianchi, S., De Stefano, N., Dichgans, M., Dotti, M. T., Duering, M., … others (2017). Cerebral autosomal dominant arteriopathy with subcorticalinfarcts and leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Medicine, 15(1), 41. doi: https://doi.org/10.1186/s12916-017-0778-8
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Dziewulska, D. (2009). Mysteries of CADASIL the contribution of neuropathology to understanding of the disease. Folia Neuropathologica, 47 (1), 1–10.
Epelbaum, S., Benisty, S., Reyes, S., O’Sullivan, M., Jouvent, E., Düring, M., … others (2011). Verbal memory impairment in subcortical ischemic vascular disease: a descriptive analysis in CADASIL. Neurobiology of Aging, 32(12), 2172–2182. doi: https://doi.org/10.1016/j.neurobiolaging.2009.12.018
Henao-Arboleda, E., Aguirre-Acevedo, D., Pacheco, C., Yamile-Bocanegra, O., & Lopera, F. (2007). Seguimiento de las características cognitivas en una población con enfermedad cerebrovascular hereditaria (CADASIL) en Colombia. Rev Neurol, 45(12), 729–733.
Joutel, A., Andreux, F., Gaulis, S., Domenga, V., Cecillon, M., Battail, N., … Tournier-Lasserve, E. (2000). The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. The Journal of Clinical Investigation, 105(5), 597–605.
Katz, S. (1963). Studies of illness in the aged. The index of ADL: a standardized measure of biologic and psychologic function. JaMa, 185, 94–99.
Lawton, M., & Brody, E. (1969). Assessment of older people: self-maintaining and instrumental activities of daily living. The gerontologist, 9(3), 179–186.
Lopera, F., Arboleda, J., Moreno, S., Almeida, N., Cuartas, M., & Arcos-Burgos, M. (2000). Caracterización clínica de una familia numerosa con enfermedad vascular cerebral hereditaria en Colombia. Rev Neurol, 31(10), 901–907.
López, J., & Vilanova, J. R. (2009). CADASIL y CARASIL. Neurologíía, 24(2), 125–130.
Mahoney, F., & Barthel, D. (1965). Funtional evaluation: The Barthel index. Maryland State Medical Journal, 14, 61–65.
Mizuno, T., Mizuta, I., & Tomimoto, H. (2016). Evaluation of NOTCH3 pro167Ser variation in a Japanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Dementia and Geriatric Cognitive Disorders Extra, 6(2), 183–184. doi: https://doi.org/10.1159/000445499
Moreno, S., Garcia, G., Saldarriaga, A., Sepulveda-Falla, D., Arboleda, J., Kosik, K., & Lopera, F. (2010). Correlación genotipo-fenotipo en CADASIL. Desempeño cognitivo en pacientes portadores de las mutaciones R1031C y C455R. International Journal of Psychological Research, 3(2), 109–122.
Murakami, T., Iwatsuki, K., Hayashi, T., Sato, K., Matsubara, E., Nagano, I., … Koji, A. B. E. (2001). Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Internal Medicine, 40(11), 1144–1148.
Önder, H., Kurtcu, K., Arsava, E. M., & Topcuoglu, M. A. (2017). R141C mutation of Notch3 gene in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Journal of Neurosciences in Rural Practice, 8(2), 301–303.
Prakash, N., Hansson, E., Betsholtz, C., Mitsiadis, T., & Lendahl, U. (2002). Mouse Notch 3 expression in the pre-and postnatal brain: relationship to the stroke and dementia syndrome CADASIL. Experimental cell research, 278(1), 31–44.
Russo, M. J., Campos, J., Martin, M. E., Clarens, M. F., Sabe, L., & Allegri, R. F. (2013). Índice de discriminabilidad en memoria de reconocimiento en deterioro cognitivo leve amnésico y demencia tipo
Alzheimer leve. Un estudio preliminar. Neurología Argentina, 5(4), 241–249. doi: https://doi.org/10.1016/j.neuarg.2013.08.002
Rutten, J. W., Dauwerse, H. G., Gravesteijn, G., van Belzen, M. J., van der Grond, J., Polke, J. M.,… Lesnik Oberstein, S. A. J. (2016). Archetypal Notch3 mutations frequent in public exome: implications for CADASIL. Annals of Clinical and Translational Neurology, 3(11), 844–853. doi: http://doi.org/10.1002/acn3.344
Tikka, S., Baumann, M., Siitonen, M., Pasanen, P., Pöyhönen, M., Myllykangas, L., … others (2014). CADASIL and CARASIL. Brain Pathology, 24(5), 525–544.
Torralva, T., Roca, M., Gleichgerrcht, E., Lopez, P., & Manes, F. (2010). INECO frontal screening (IFS): A brief, sensitive, and specific tool to assess executive functions in dementia. Journal of the International Neuropsychological Society, 16(5), 737–747.
doi: https://doi.org/10.1017/S1355617709990415
Tournier-Lasserve, E., Iba-Zizen, M.-T., Romero, N., & Bousser, M.-G. (1991). Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke, 22(10), 1297–1302. doi: https://doi.org/10.1161/01.STR.22.10.1297
Wesołowski, W., Dziewulska, D., Koziarska, M., & Iżycka-Świeszewska, E. (2015). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)–literature review apropos an autopsy case. Polish Journal of Pathology, 66(3), 323–329.
Yadav, S., Bentley, P., Srivastava, P., Prasad, K., & Sharma, P. (2013). The first Indian-origin family with genetically proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Journal of Stroke and Cerebrovascular Diseases, 22(1), 28–31. doi: https://doi.org/10.1016/j.jstrokecerebrovasdis.2011.05.023
Yesavage, J. A., Brink, T. L., Rose, T. L., Lum, O., Huang, V., Adey, M., & Leirer, V. O. (1982). Development and validation of a geriatric depression screening scale: a preliminary report. Journal of Psychiatric Research, 17 (1), 37–49. doi: https://doi.org/10.1016/0022-3956(82)90033-4
Arboleda, E. H., Muñoz, C., Acevedo, D. C. A., Lara, E., Quebradas, D. A., & Restrepo, F. J. L. (2010). Datos normativos de pruebas neuropsicológicas en adultos mayores en una población Colombiana. Revista Chilena de Neuropsicología, 5(3), 213–225.
Brookes, R. L., Hollocks, M. J., Tan, R. Y. Y., Morris, R. G., & Markus, H. S. (2016). Brief screening of vascular cognitive impairment in patients with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy without dementia. Stroke, 47 (10), 2482–2487. doi: https://doi.org/10.1161/STROKEAHA.116.013761
Buffon, F., Porcher, R., Hernandez, K., Kurtz, A., Pointeau, S., Vahedi, K., …Chabriat, H. (2006). Cognitive profile in CADASIL. Journal of Neurology, Neurosurgery & Psychiatry, 77 (2), 175–180.
Chabriat, H., Hervé, D., Duering, M., Godin, O., Jouvent, E., Opherk, C., … others (2016). Predictors of clinical worsening in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: prospective cohort study. Stroke, 47 (1), 4–11. doi: https://doi.org/10.1161/STROKEAHA.115.010696
Dichgans, M. (2009). Cognition in CADASIL. Stroke, 40(3 suppl 1), S45–S47. doi: https://doi.org/10.1161/STROKEAHA.108.534412
Di Donato, I., Bianchi, S., De Stefano, N., Dichgans, M., Dotti, M. T., Duering, M., … others (2017). Cerebral autosomal dominant arteriopathy with subcorticalinfarcts and leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Medicine, 15(1), 41. doi: https://doi.org/10.1186/s12916-017-0778-8
do Campo Vázquez, R., Morales-Vidal, S., Randolph, C.,Chadwick, L., & Biller, J. (2011). CADASIL: a case series of 11 patients. Revista de Neurología, 52(4), 202–210. doi: https://doi.org/rn2010565[pii]
Dziewulska, D. (2009). Mysteries of CADASIL the contribution of neuropathology to understanding of the disease. Folia Neuropathologica, 47 (1), 1–10.
Epelbaum, S., Benisty, S., Reyes, S., O’Sullivan, M., Jouvent, E., Düring, M., … others (2011). Verbal memory impairment in subcortical ischemic vascular disease: a descriptive analysis in CADASIL. Neurobiology of Aging, 32(12), 2172–2182. doi: https://doi.org/10.1016/j.neurobiolaging.2009.12.018
Henao-Arboleda, E., Aguirre-Acevedo, D., Pacheco, C., Yamile-Bocanegra, O., & Lopera, F. (2007). Seguimiento de las características cognitivas en una población con enfermedad cerebrovascular hereditaria (CADASIL) en Colombia. Rev Neurol, 45(12), 729–733.
Joutel, A., Andreux, F., Gaulis, S., Domenga, V., Cecillon, M., Battail, N., … Tournier-Lasserve, E. (2000). The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. The Journal of Clinical Investigation, 105(5), 597–605.
Katz, S. (1963). Studies of illness in the aged. The index of ADL: a standardized measure of biologic and psychologic function. JaMa, 185, 94–99.
Lawton, M., & Brody, E. (1969). Assessment of older people: self-maintaining and instrumental activities of daily living. The gerontologist, 9(3), 179–186.
Lopera, F., Arboleda, J., Moreno, S., Almeida, N., Cuartas, M., & Arcos-Burgos, M. (2000). Caracterización clínica de una familia numerosa con enfermedad vascular cerebral hereditaria en Colombia. Rev Neurol, 31(10), 901–907.
López, J., & Vilanova, J. R. (2009). CADASIL y CARASIL. Neurologíía, 24(2), 125–130.
Mahoney, F., & Barthel, D. (1965). Funtional evaluation: The Barthel index. Maryland State Medical Journal, 14, 61–65.
Mizuno, T., Mizuta, I., & Tomimoto, H. (2016). Evaluation of NOTCH3 pro167Ser variation in a Japanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Dementia and Geriatric Cognitive Disorders Extra, 6(2), 183–184. doi: https://doi.org/10.1159/000445499
Moreno, S., Garcia, G., Saldarriaga, A., Sepulveda-Falla, D., Arboleda, J., Kosik, K., & Lopera, F. (2010). Correlación genotipo-fenotipo en CADASIL. Desempeño cognitivo en pacientes portadores de las mutaciones R1031C y C455R. International Journal of Psychological Research, 3(2), 109–122.
Murakami, T., Iwatsuki, K., Hayashi, T., Sato, K., Matsubara, E., Nagano, I., … Koji, A. B. E. (2001). Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Internal Medicine, 40(11), 1144–1148.
Önder, H., Kurtcu, K., Arsava, E. M., & Topcuoglu, M. A. (2017). R141C mutation of Notch3 gene in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Journal of Neurosciences in Rural Practice, 8(2), 301–303.
Prakash, N., Hansson, E., Betsholtz, C., Mitsiadis, T., & Lendahl, U. (2002). Mouse Notch 3 expression in the pre-and postnatal brain: relationship to the stroke and dementia syndrome CADASIL. Experimental cell research, 278(1), 31–44.
Russo, M. J., Campos, J., Martin, M. E., Clarens, M. F., Sabe, L., & Allegri, R. F. (2013). Índice de discriminabilidad en memoria de reconocimiento en deterioro cognitivo leve amnésico y demencia tipo
Alzheimer leve. Un estudio preliminar. Neurología Argentina, 5(4), 241–249. doi: https://doi.org/10.1016/j.neuarg.2013.08.002
Rutten, J. W., Dauwerse, H. G., Gravesteijn, G., van Belzen, M. J., van der Grond, J., Polke, J. M.,… Lesnik Oberstein, S. A. J. (2016). Archetypal Notch3 mutations frequent in public exome: implications for CADASIL. Annals of Clinical and Translational Neurology, 3(11), 844–853. doi: http://doi.org/10.1002/acn3.344
Tikka, S., Baumann, M., Siitonen, M., Pasanen, P., Pöyhönen, M., Myllykangas, L., … others (2014). CADASIL and CARASIL. Brain Pathology, 24(5), 525–544.
Torralva, T., Roca, M., Gleichgerrcht, E., Lopez, P., & Manes, F. (2010). INECO frontal screening (IFS): A brief, sensitive, and specific tool to assess executive functions in dementia. Journal of the International Neuropsychological Society, 16(5), 737–747.
doi: https://doi.org/10.1017/S1355617709990415
Tournier-Lasserve, E., Iba-Zizen, M.-T., Romero, N., & Bousser, M.-G. (1991). Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke, 22(10), 1297–1302. doi: https://doi.org/10.1161/01.STR.22.10.1297
Wesołowski, W., Dziewulska, D., Koziarska, M., & Iżycka-Świeszewska, E. (2015). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)–literature review apropos an autopsy case. Polish Journal of Pathology, 66(3), 323–329.
Yadav, S., Bentley, P., Srivastava, P., Prasad, K., & Sharma, P. (2013). The first Indian-origin family with genetically proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Journal of Stroke and Cerebrovascular Diseases, 22(1), 28–31. doi: https://doi.org/10.1016/j.jstrokecerebrovasdis.2011.05.023
Yesavage, J. A., Brink, T. L., Rose, T. L., Lum, O., Huang, V., Adey, M., & Leirer, V. O. (1982). Development and validation of a geriatric depression screening scale: a preliminary report. Journal of Psychiatric Research, 17 (1), 37–49. doi: https://doi.org/10.1016/0022-3956(82)90033-4
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