da Silva Julio Cesar Vasconcelos, Gasparetto Emerson L, Engelhardt Eliasz
Neuropsicólogo, Mestre em Clínica Médica/Neurologia-UFRJ, Aluno de Doutorado-CDA/IPUB, Universidade Federal do Rio de Janeiro, Rio de Janeiro RJ, Brazil.
Professor Adjunto, Departamento de Radiologia, Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro RJ, Brazil.
Dement Neuropsychol. 2012 Jul-Sep;6(3):188-191. doi: 10.1590/S1980-57642012DN06030013.
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.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是一种由Notch-3基因突变引起的遗传性脑动脉病。通过皮肤活检发现嗜锇颗粒物质（GOM）的存在和/或进行Notch-3基因检测来确诊。我们报告一例52岁男性病例，该患者除了进行性感觉、运动和认知障碍外，还反复出现短暂性脑缺血发作（TIA）和偏头痛。他接受了使用CERAD（阿尔茨海默病注册协会）成套测试以及其他测试的神经心理学评估，同时还进行了神经影像学检查和Notch-3基因分析，从而确诊。发现了执行功能、记忆、语言和重要的失用症变化。影像学研究表明额叶和脑深部区域受累更严重。
