The Epidermal Growth Factor Domain of the Mutation Does Not Appear to Influence Disease Progression in CADASIL When Brain Volume and Sex Are Taken into Account.
Jessica LebenbergJean-Pierre GuichardAntoine GuillonnetNathanaelle Ibos-AugéN AliliA TalebN Dias-GastellierHugues ChabriatEric JouventPublished in: AJNR. American journal of neuroradiology (2022)
Our results demonstrate a detrimental effect of male sex on brain volume throughout life in CADASIL. We identified a subgroup of male patients whose brain volume and clinical outcomes were similar to those of age-matched women. They did not have a specific distribution of the epidermal growth factor repeat domain, suggesting that yet-unidentified predictors may interact with sex and brain volume in driving disease evolution.
Keyphrases
- growth factor
- resting state
- white matter
- functional connectivity
- end stage renal disease
- cerebral ischemia
- ejection fraction
- chronic kidney disease
- randomized controlled trial
- polycystic ovary syndrome
- multiple sclerosis
- prognostic factors
- clinical trial
- pregnant women
- insulin resistance
- patient reported outcomes
- subarachnoid hemorrhage