Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

    October 2021 in “ Turkish Journal Of Neurology ”
    Burcu Sevinç Rüstemoğlu, Bedia Samancı, Fatih Tepgeç, Murat Kürtüncü, Umut Altunoğlu, Tuncay Gündüz, Gözde Yeşil, Şahin Avcı, Hakan Gürvıt, Başar Bılgıç, Güven Toksoy, Mefkûre Eraksoy, Haşmet Hanağası, Zehra Oya Uyguner
    TLDR Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
    The study investigated clinical and molecular genetic findings in 22 patients from 16 families with cerebral arteriopathy, focusing on CADASIL and CARASIL, which are linked to the NOTCH3 and HTRA1 genes, respectively. The research identified missense changes in the NOTCH3 gene in 18 cases and pathogenic variants in the HTRA1 gene in 4 patients. The onset of the disease was approximately 16 years earlier in cases with specific NOTCH3 variants. The study highlighted the importance of molecular genetic investigation for accurate diagnosis, understanding inheritance patterns, and guiding treatment strategies. Unique genetic variants in both NOTCH3 and HTRA1 were reported for the first time, emphasizing the need for genetic analysis in managing these conditions.
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