Association of <i>NOTCH3</i> Variant Risk Category With 2-Year Clinical and Radiologic Small Vessel Disease Progression in Patients With CADASIL
Minne N. Cerfontaine, Remco J. Hack, Benno Gesierich, Marco Duering, Marie‐Noëlle W. Witjes‐Ané, Mar Rodríguez-Girondo, Gido Gravesteijn, Julie W. Rutten, Saskia A.J. Lesnik Oberstein
Abstract
Pathogenic variants in NOTCH3 are the main cause of hereditary cerebral small vessel disease (SVD). SVD-associated NOTCH3 variants have recently been categorized into high risk (HR), moderate risk (MR), or low risk (LR) for developing early-onset severe SVD. The most severe NOTCH3-associated SVD phenotype is also known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We aimed to investigate whether NOTCH3 variant risk category is associated with 2-year progression rate of SVD clinical and neuroimaging outcomes in CADASIL.