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Related Experiment Video

Updated: Feb 17, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
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CADASIL: case report.

Julio Cesar Vasconcelos da Silva1, Emerson L Gasparetto2, Eliasz Engelhardt3

  • 1Neuropsicólogo, Mestre em Clínica Médica/Neurologia-UFRJ, Aluno de Doutorado-CDA/IPUB, Universidade Federal do Rio de Janeiro, Rio de Janeiro RJ, Brazil.

Dementia & Neuropsychologia
|December 8, 2017
PubMed
Summary
This summary is machine-generated.

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic brain disorder. Diagnosis involves skin biopsy or Notch-3 gene testing, confirmed by neuropsychological and imaging studies in a 52-year-old male patient.

Area of Science:

  • Neurology
  • Genetics

Background:

  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder.
  • It is caused by mutations in the Notch-3 gene, affecting small blood vessels in the brain.

Observation:

  • A 52-year-old man presented with recurrent transient ischemic attacks (TIAs), migraine, and progressive neurological deficits.
  • Neuropsychological assessment using the CERAD battery revealed significant executive dysfunction, memory, language impairments, and apraxia.

Findings:

  • Genetic analysis confirmed a Notch-3 gene mutation, leading to a CADASIL diagnosis.
  • Neuroimaging indicated predominant involvement of the frontal lobes and deep brain structures.

Implications:

Keywords:
CADASILNotch3cognitionneuropsychology

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  • This case highlights the importance of integrating clinical, neuropsychological, genetic, and imaging data for CADASIL diagnosis.
  • Early diagnosis and understanding the pattern of brain involvement are crucial for managing CADASIL patients and their progressive neurological decline.