title: Intelligence impairment, personality features and psychopathology disturbances in a family affected with CADASIL.
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.
authors: Facultad de Psicología, Universida Nacional de Educación a Distancia (UNED), C/Juan del Rosal, 10. 28040 Madrid, Spain. franjados@psi.uned.es
authors: Francisco Javier
authors: FJ
authors: Domínguez-Sánchez
authors: Amaia
authors: A
authors: Lasa-Aristu
authors: Miguel
authors: M
authors: Goñi-Imízcoz
mesh_terms: D000328:Adult; D000483:Alleles; D046589:CADASIL / Q000235:genetics* / Q000523:psychology*; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D015161:Dementia, Multi-Infarct / Q000235:genetics* / Q000523:psychology*; D003865:Major Depressive Disorder / Q000235:genetics / Q000523:psychology; D019263:Dysthymic Disorder / Q000235:genetics / Q000523:psychology; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007360:Intelligence / Q000235:genetics*; D008950:MMPI / Q000706:statistics & numerical data; D008297:Male; D001523:Mental Disorders / Q000235:genetics* / Q000523:psychology*; D008875:Middle Aged; D010554:Personality Disorders / Q000235:genetics* / Q000523:psychology*; D010641:Phenotype; D011594:Psychometrics; D011599:Psychopathology; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D014888:Wechsler Scales / Q000706:statistics & numerical data
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch