CADASIL: case report

CADASIL: relato de caso

Julio Cesar Vasconcelos da Silva Emerson L. Gasparetto Eliasz Engelhardt About the authors

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.

Key words:
CADASIL; Notch3; cognition; neuropsychology

Resumo

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) é uma arteriopatia cerebral hereditária causada por mutações no gene Notch-3. O diagnóstico é feito através de biópsia da pele onde se verifica presença de material osmiofílico granular (GOM) e/ou por teste genético para Notch-3. É relatado o caso de um homem de 52 anos, com ataques isquêmicos transitórios (AIT) recorrentes, enxaqueca e comprometimento sensitivo e motor, e cognitivo progressivo. Foi submetido à avaliação neuropsicológica através da bateria CERAD (Consortium to Establish a Registry for Alzheimer's Disease) e outros testes, exames de neuroimagem e análise genética para Notch-3, que confirmou o diagnóstico. Foram encontradas alterações em função executiva, memória, linguagem e importante comprometimento apráxico. Exames de imagem sugerem um maior envolvimento dos lobos frontais e áreas profundas do cérebro.

Palavras-chave:
CADASIL; Notch-3; cognição; neuropsicologia

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Publication Dates

  • Publication in this collection
    Jul-Sep 2012

History

  • Received
    08 June 2012
  • Accepted
    15 Aug 2012
Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento R. Vergueiro, 1353 sl.1404 - Ed. Top Towers Offices, Torre Norte, São Paulo, SP, Brazil, CEP 04101-000, Tel.: +55 11 5084-9463 | +55 11 5083-3876 - São Paulo - SP - Brazil
E-mail: revistadementia@abneuro.org.br | demneuropsy@uol.com.br
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