CADASIL: case report

• Main Authors: Julio Cesar Vasconcelos da Silva, Emerson L. Gasparetto, Eliasz Engelhardt
• Format: Article
• Language: English
• Published: Associação Neurologia Cognitiva e do Comportamento
• Series: Dementia & Neuropsychologia
• Subjects: CADASIL; Notch3; cognition; neuropsychology
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642012000300188&lng=en&tlng=en

ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3. We report a case of a 52-year-old man with recurrent transient ischemic attacks (TIA), migraine, in addition to progressive sensory, motor and cognitive impairment. He was submitted to a neuropsychological assessment with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery along with other tests, as well as neuroimaging and genetic analysis for Notch-3, confirming the diagnosis. Executive function, memory, language and important apraxic changes were found. Imaging studies suggested greater involvement in the frontal lobes and deep areas of the brain.