Genetic characteristics of Chinese patients with hemorrhagic cerebrovascular disease.

  Vol. 43 (2) 2022 Neuro endocrinology letters Journal Article   2022; 43(2): 107-112 PubMed PMID:  35913834    Citation

BACKGROUND: We investigate the clinical and genetic characteristics of hemorrhagic cerebrovascular disease in order to provide a new theoretical basis for the prevention and treatment of hereditary cerebrovascular disease. METHOD: Three hereditary cerebral hemorrhage cases were analyzed retrospectively. The patients' families were surveyed, the clinical characteristics summarized, and gene polymorphisms investigated. RESULTS: Among the three cases, two patients had familial cerebral cavernous hemangiomas, and genetic testing revealed a heterozygous mutation in the CCM1 gene, with a deletion of base (T) in exon 15 (c.1542delT). The last patient had hereditary cerebral hemorrhage with amyloidosis, Finnish type, and the proband, his mother, and his daughter were found to have a heterozygous G duplicate mutation at position 100 in exon 1 of the GSN gene (c.100dupG). CONCLUSIONS: Future screening for genetic mutations associated with a high-risk of hereditary cerebral hemorrhage can help identify individuals at risk for this condition and thereby reduce the occurrence and progression of the disease. Such screening will further enhance the precision in preventing and treating cerebrovascular diseases.

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