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

  • Francisco Javier Domínguez-Sánchez (a1), Amaia Lasa-Aristu (a1) and Miguel Goñi-Imízcoz (a2)

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.

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Corresponding author

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

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