Genetic characterization of a Turkish dementia cohort: a focus on leukodystrophy genes

Leukodystrophies broadly affect the brain white matter. As such, diseases including cerebral autosomal dominant/ recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL/CARASIL) are included in this group. NOTCH3 and HTRA1 variants are a known cause of CADASIL and CARASIL, respectively. Studies have reported NOTCH3 variants in Alzheimer’s disease, and heterozygous HTRA1 variants in cerebral small vessel disease. Therefore, there is growing evidence of leukodystrophy gene variants in neurodegenerative diseases.