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Subcortical volumes and cognition in CADASIL - A pilot study
Marinus Fislage1,2, Chih-Hao Chen1, Yu-Wen Cheng1
1Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Cerebral Circulation - Cognition and Behavior
|November 4, 2024
Summary
In Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), thalamus and putamen volumes correlate with cognitive function. These subcortical regions, alongside gray matter and brain parenchymal fraction, are key indicators of cognitive performance.
Area of Science:
- Neuroimaging
- Genetics
- Neurology
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the leading genetic cause of vascular dementia.
- Subcortical brain volumes may serve as indicators of cognitive reserve and function.
Purpose of the Study:
- To investigate the relationship between subcortical brain volumes and cognitive function in patients with CADASIL.
Main Methods:
- Ninety patients with pathogenic NOTCH3 variants underwent MRI.
- Volumes of subcortical structures (thalamus, putamen, etc.), cortical gray matter, and brain parenchymal fraction (BPF) were quantified.
- Associations with cognitive scores (MMSE) and vascular cognitive impairment (VCI) were analyzed.
Main Results:
- Thalamus and putamen volumes were significantly associated with Mini-mental state examination (MMSE) scores and the diagnosis of vascular cognitive impairment (VCI).
- Larger thalamus volume correlated with better executive function and visuospatial perception.
- Cortical gray matter volume and BPF demonstrated associations with various cognitive outcomes.
Conclusions:
- While cortical gray matter volume and BPF are established markers, thalamus and putamen volumes show potential as significant indicators of cognitive performance in CADASIL.
- These findings highlight specific subcortical regions for future research in CADASIL and vascular dementia.
