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CNS-ICNA 2020

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Gene variants associated with imaging phenotype in people with cerebral small vessel disease

Takeaway

  • Variants in HTRA1 and NOTCH3 were associated with extreme phenotypes of cerebral small vessel disease (SVD) as defined by MRI in older persons.

Why this matters

  • SVD is a major contributor to stroke and dementia worldwide, but its pathogenesis remains poorly understood and there are currently no specific treatments available. Understanding the underlying genetics may shed light on the disease mechanisms and lead to the discovery of novel drug targets.

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