Hostname: page-component-78c5997874-v9fdk Total loading time: 0 Render date: 2024-11-18T08:50:36.243Z Has data issue: false hasContentIssue false
  • English
  • Français

Intelligence Impairment, Personality Features and Psychopathology Disturbances in a Family Affected with CADASIL

Published online by Cambridge University Press:  10 January 2013

Francisco Javier Domínguez-Sánchez ,
Amaia Lasa-Aristu  and
Miguel Goñi-Imízcoz
Francisco Javier Domínguez-Sánchez*
Affiliation:
Universidad Nacional de Educación a Distancia (Spain)
Amaia Lasa-Aristu
Affiliation:
Universidad Nacional de Educación a Distancia (Spain)
Miguel Goñi-Imízcoz
Affiliation:
Hospital Divino Valles (Spain)
*
Correspondence concerning this article should be addressed to F. Javier Domínguez-Sánchez. Facultad de Psicología. Universidad Nacional de Educación a Distancia (UNED). C/ Juan del Rosal, 10. 28040 Madrid (Spain). E-mail: franjados@psi.uned.es
Get access Rights & Permissions [Opens in a new window]

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small-vessel disease of the brain that is characterized by headache, recurring lacunar strokes, mood changes and progressive cognitive deterioration. The disease is transmitted with an autosomal dominant pattern and usually starts during midadulthood (at 30–50 years of age). Cognitive deficits in patients with CADASIL develop slowly. The dementia causes frontal-like symptoms and it typically develops after a history of recurrent stroke. We describe three patients from one Spanish family affected by this disease. All three cases underwent comprehensive clinical and neuropsychological examination, and were monitored for seven years. The results obtained in this study describe a) a significant loss of the intelligence quotient (IQ) and noticeable damage to abstract ability (g factor), b) mood and psychopathological disturbances (major depression and dysthymia), and c) a personality with neurotic features.

La arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía (CADASIL) se caracteriza por una alteración de las arterias cerebrales de pequeño y mediano calibre. La presentación clínica incluye migraña, infartos cerebrales recurrentes, cambios del humor y deterioro cognitivo. La enfermedad se transmite siguiendo un patrón autosómico dominante e inicia su desarrollo entre los 30-50 años de edad. El deterioro cognitivo evoluciona lentamente hasta un cuadro similar al de la demencia frontal, y con frecuencia se desarrolla tras un periodo previo de episodios isquémicos recurrentes. Este trabajo describe a tres pacientes de una familia española afectada por la enfermedad. Se les siguió durante un período de siete años. Con el fin de estudiar la evolución del cuadro, se efectuaron diversas pruebas clínicas y neuropsicológicas. Los resultados obtenidos muestran a) una disminución significativa del cociente de inteligencia (CI) y un notorio deterioro del factor de inteligencia general (factor g), b) alteraciones psicopatológicas (depresión mayor y distimia), y c) un perfil de personalidad de rasgos neuróticos.

Keywords

CADASILintelligencepersonalitypsychopathologyvascular dementiaCADASILinteligenciapersonalidadpsicopatologíademencia vascular
Type
Research Article
Information
The Spanish Journal of Psychology , Volume 14 , Issue 2 , November 2011 , pp. 936 - 943
Copyright
Copyright © Cambridge University Press 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Aben, I., Denollet, J., Lousberg, R., Verhey, F., Wojciechowski, F., & Honig, A. (2002). Personality and vulnerability to depression in stroke patients. A 1-year prospective follow-up study. Stroke, 33, 2391–2395. doi:10.1161/01.STR.0000029826. 41672.2ECrossRefGoogle ScholarPubMed
Amberla, K., Wäljas, M., Tuominen, S., Almkvist, O., Pöyhönen, M., Tuisku, S., … Viitanen, M. (2004). Insidious cognitive decline in CADASIL. Stroke, 35, 1598–1602. doi:10.1161/01. STR.0000129787.92085.0aCrossRefGoogle ScholarPubMed
American Psychiatric Association (2000). Diagnostic and Statistical Manual of Mental Disorders, (4th Ed.), Text Revision (DSM-IV-TR). Washington, DC: American Psychiatric Association.Google Scholar
Auer, D. P., Pütz, B., Gössl, Ch., Elbel, G. K., Passer, Th., & Dichgans, M. (2001). Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology, 218(2), 443–451.CrossRefGoogle ScholarPubMed
Colom, R., Abad, F. J., García, L. F., & Juan-Espinosa, M. (2002). Education, Wechsler's Full Scale IQ, and g. Intelligence, 30, 449–462. doi:10.1016/S0160-2896(02)00122-8CrossRefGoogle Scholar
Costa, R. M., Honjo, T., & Silva, A. J. (2003). Learning and memory deficits in Notch mutant mice. Current Biology, 13, 1348–1354. doi:10.1016/S0960-9822(03)00492-5CrossRefGoogle ScholarPubMed
Chabriat, H., Vahedi, K., Iba-Zizen, M. T., Joutel, A., Nibbio, A., Nagy, T. G., … Lyon-Caen, O. (1995). Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet, 346, 934–939. doi:10.1016/S0140-6736(95)91557-5CrossRefGoogle ScholarPubMed
Davidson, R. J., Pizagalli, D., Nitschke, J. B., & Putnam, K. (2002). Depression: Perspectives from affective neuroscience. Annual Review of Psychology, 53, 545–574. doi:10.1146/annurev.psych.53.100901.135148CrossRefGoogle ScholarPubMed
Deary, I. J., Leaper, S. A., Murray, A. D., Staff, R. T., & Whaley, L. J. (2003). Cerebral white matter abnormalities and lifetime cognitive change: A 67-year follow-up of Scottish Mental Survey of 1932. Psychology and Aging, 18, 140–148. doi:10.1037/0882-7974.18.1.140CrossRefGoogle Scholar
Deary, I. J., & Matthews, G. (1993). Personality traits are alive and well. The Psychologist, 6, 299–311.Google Scholar
Duncan, J. (1995). Attention, intelligence, and the frontal lobes. In Gazzaniga, M. S. (Ed.), The cognitive neurosciences (pp. 721–733). Cambridge, MA: MIT Press/Bradford Books.Google Scholar
First, M. B., Spitzer, R. L., Gibbon, M., & Williams, J. B. W. (1999). Guía del usuario para la Entrevista Clínica Estructurada para los Trastornos del Eje I del DSM-IV. SCID-I. Versión Clínica [Structured Clinical Interview for DSM-IV Axis I Disorders, Clinician Version (SCID-CV)]. Barcelona, Spain: Masson.Google Scholar
First, M. B., Gibbon, M., Spitzer, R. L., Williams, J. B. W., & Benjamin, L. S. (1999). Guía del usuario para la Entrevista Clínica Estructurada para los Trastornos del Eje II del DSM-IV (SCID-II) [Structured Clinical Interview for DSM-IV Personality Disorders, (SCID-II)]. Barcelona, Spain: Masson.Google Scholar
Fry, A. F., & Hale, S. (2000). Relationships among processing speed, working memory, and fluid intelligence in children. Biological Psychology, 54, 1–34. doi:10.1016/S0301-0511(00)00051-XCrossRefGoogle ScholarPubMed
Hathaway, S. R., & McKinley, J. C. (1988). Inventario Multifásico de Personalidad de Minnesota [Minnesota Multiphasic Personality Inventory]. Madrid, Spain: TEA.Google Scholar
Jonas, B. S., & Mussolino, M. E. (2000). Symptoms of depression as a prospective risk factor for stroke. Psychosomatic Medicine, 62(4), 463–471.CrossRefGoogle ScholarPubMed
Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., … Tournier-Lasserve, E, (1996). Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature, 38, 707–710. doi:10.1038/383707a0CrossRefGoogle Scholar
Leblanc, G. G., Meschia, J. F., Stuss, D. T., & Hachinski, V. (2006). Genetics of vascular cognitive impairment. Stroke, 37, 248–255. doi:10.1161/01.STR.0000195177.61184.49CrossRefGoogle ScholarPubMed
Lesnik Oberstein, S. A. J., van der Boom, R., Middelkoop, H. A. M., Ferrari, M. D., Knaap, y. M., van Houwelingen, H. C., … Haan, J. (2003). Incipient CADASIL. Archives of Neurology, 60, 707–712. doi:10.1007/s00401-003-0701-6CrossRefGoogle ScholarPubMed
O'Sullivan, M., Barrick, T. R., Morris, R. G., Clark, C. A., & Markus, H. S. (2005). Damage within a network of white matter regions underlies executive dysfunction in CADASIL. Neurology, 65, 1584–1590. doi:10.1136/jnnp.2004.045963CrossRefGoogle ScholarPubMed
Peters, N., Opherk, Ch., Danek, A., Ballard, C., Herzog, J., & Dichgans, M. (2005). The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia. American Journal of Psychiatry, 162, 2078–2085. doi:10.1176/appi.ajp.162.11.2078CrossRefGoogle ScholarPubMed
Pinillos, J. L. (1982). Cuestionario de Personalidad CEP [CEP personality questionnaire]. Madrid, Spain: TEA.Google Scholar
Raven, J. C., Court, J. H., & Raven, J. (1996). Matrices Progresivas. Escala SPM General [Standard Progressive Matrices]. Madrid, Spain: TEA.Google Scholar
Roca, M., Parr, A., Thompson, R., Woolgar, A., Torralva, T., Antoun, N., … Duncan, J. (2010). Executive function and fluid intelligence after frontal lobe lesions. Brain, 133, 234–247. doi:10.1093/brain/awp269CrossRefGoogle ScholarPubMed
Ruchoux, M-M., & Maurage, C-A. (1997). CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Journal of Neuropathology and Experimental Neurology, 56, 947–964.CrossRefGoogle ScholarPubMed
Steffens, D. C., Krishnan, R. R., Crump, C., & Burke, G. L. (2002). Cerebrovascular disease and evolution of depressive symptoms in the Cardiovascular Health Study. Stroke, 33, 1636–1644. doi:10.1161/01.STR.0000018405.59799.D5CrossRefGoogle ScholarPubMed
Trojano, L., Ragno, M., Manca, A., & Caruso, G. (1998). A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a 2-year neuropsychological follow-up. Journal of Neurology, 245, 217–222. doi:10.1007/s004150050208CrossRefGoogle ScholarPubMed
van den Boom, R., Lesnik Oberstein, S. A., Ferrari, M. D., Haan, J., & van Buchem, M.A. (2003). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages—3rd–6th decades. Radiology, 229(3), 683–690. doi:10.1148/radiol.2293021354CrossRefGoogle ScholarPubMed
Verin, M., Rolland, y., Landgraf, F., Chabriat, H., Bompais, B. Michael, A., … Martinet, J. P. (1995). New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. Journal of Neurology, Neurosurgery and Psychiatry, 59, 579–585. doi:10.1136/jnnp.59.6.579CrossRefGoogle ScholarPubMed
Wahlund, L. O., Barkhof, F., Fazekas, F., Bronge, L., Augustin, M., Sjögren, M., … Scheltens, P. (2001). A new rating scale for age-related white matter changes applicable to MRI and CT. Stroke, 32, 1318–1322. doi:10.1161/01.STR.32.6.1318CrossRefGoogle ScholarPubMed
Wechsler, D. (1977). Escala de Inteligencia de Weschler para Adultos (WAIS) [Wechsler Adult Intelligence Scale]. Madrid, Spain: TEA.Google Scholar
Wechsler, D. (1997). Escala de Inteligencia de Weschler para Adultos-III (WAIS-III) [Wechsler Adult Intelligence Scale – third edition (WAIS-III)]. Madrid, Spain: TEA.Google Scholar