CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases.
George P ParaskevasMaria-Ioanna StefanouVasilios C ConstantinidesEleni BakolaMaria ChondrogianniSotirios GiannopoulosEvangelia KararizouFotini BoufidouChristina ZompolaIoanna TsantzaliAikaterini TheodorouLina PalaiodimouMichail VikelisStefanos LachanisMatilda PapathanasiouChristos BakirtzisIoanna KoutroulouTheodoros KarapanayiotidesGeorgia XiromerisiouElisabeth KapakiGeorgios K TsivgoulisPublished in: European journal of neurology (2021)
The clinical presentation of CADASIL in Greece is in accordance with the phenotype encountered in Caucasian populations, but differs from the Asian phenotype, which is characterized by a lower prevalence of migraine and psychiatric symptoms. The genotype of Greek CADASIL pedigrees is similar to that of British pedigrees, exhibiting a high prevalence of exon 4 mutations, but differs from Italian and Asian populations, where mutations in exon 11 are frequently encountered.