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Cognitive profile of CADASIL patients with R544C Notch3 mutation

Jung-Kook Song1, Young Ook Noh, Jung Seok Lee

  • 1Preventive Medicine, Jeju National University College of Medicine, Jeju, South Korea.

European Neurology
|February 1, 2014
PubMed

Insights

Patients with Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) carrying the R544C mutation show cognitive deficits, particularly in attention and executive function. These impairments are linked to brain imaging findings like lacunes.

Area of Science:

  • Neurology
  • Genetics
  • Neuroimaging

Background:

  • Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic microangiopathy linked to Notch3 gene mutations.
  • The R544C mutation is a specific genetic variant within the Notch3 gene associated with CADASIL.

Purpose of the Study:

  • To investigate the cognitive and neuroimaging characteristics of CADASIL patients with the R544C mutation.
  • To compare cognitive function between CADASIL patients with and without dementia, and with healthy controls.

Main Methods:

  • Neuropsychological testing was administered to 58 CADASIL R544C patients and 26 controls.
  • Patients were categorized into CADASIL with dementia (CADASIL-D) and CADASIL no dementia (CADASIL-ND) groups.
  • Brain MRI was performed on R544C patients; linear regression analyzed the impact of lacunes and white matter hyperintensities on cognition in the CADASIL-ND group.

Main Results:

  • The CADASIL-ND group showed significant deficits in attention, executive function, and motor control compared to controls.
  • The CADASIL-D group exhibited impairments across most cognitive domains, excluding language.
  • In the CADASIL-ND group, increased lacunes correlated with lower scores on the Alzheimer's Disease Assessment Scale cognitive subtest and Stroop color test.

Conclusions:

  • CADASIL patients with the R544C mutation exhibit distinct patterns of cognitive impairment.
  • The study highlights the association between specific neuroimaging markers (lacunes) and cognitive decline in non-demented CADASIL patients.
  • Cognitive impairment patterns in R544C CADASIL patients appear consistent across different ethnicities.
Abstract

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