JNNP: NOTCH3 variants are more common than expected in the general population and are associated with stroke and vascular dementia: an analysis of 200,000 participants

Cerebral small blood vessel disease (SVD) is a brain stroke, the main cause and dementia.

 In order to determine whether these variants increase disease, vascular stroke also needs to analyze the clinical data in the sequencing database.

Between 2006 and 2010, more than 500,000 healthy volunteers aged 40-69 were recruited in the UK.

Of the 200632 participants with exome sequencing data, 443 (about 1 in 450) carried 67 different cysteine-altered NOTCH3 variants.

In short.

The NOTCH3 variant with changes in cysteine ​​is more common in the general population than expected in the CADASIL prevalence, and is a significant risk factor for "sporadic" stroke and vascular dementia.
They are related to MRI changes in small vessel disease, and their distribution is similar to that seen in CADASIL.
ChoBPH ,NannoniS ,HarshfieldEL ChoBPH Cho NannoniS Nannoni HarshfieldEL Harshfield , et al bmj.
com/content/early/2021/03/11/jnnp-2020-325838" target="_blank" rel="noopener">NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants NOTCH3 Journal of Neurology, Neurosurgery & Psychiatry  Published Online First:  12 March 2021.
  Published Online First: doi:  10.
1136/jnnp-2020-325838doi: leave a message here