Behnoosh Tasharrofi, Ali Najafi, Elham Pourbakhtyaran, Susan Amirsalari, Golazin Shahbodagh Khan, Mahmoud Reza Ashrafi, Ali Reza Tavasoli, Mohammad Keramatipour, Morteza Heidari
BACKGROUND: NOTCH3 variants are known to be linked to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, some null NOTCH3 variants with homozygous inheritance cause neurological symptoms distinct from CADASIL. The aim of this study was to expand the clinical spectrum of this distinct condition and provide further evidence of its autosomal recessive inheritance. METHODS AND RESULTS: Whole exome sequencing (WES) was performed on a proband who exhibited livedo racemosa, ataxia, cognitive decline, seizures, and MRI white matter abnormalities without anterior temporal pole lesions...
June 1, 2024: Molecular Biology Reports