• Korean Journal of Radiology
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• 제23권5호
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• pp.566-567
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• 2022

• Journal of Korean Neurosurgical Society
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• 제44권3호
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• pp.136-140
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• 2008

Objective : Numerous studies have compared the characteristics of familial intracranial aneurysms with those of non-familial aneurysms. To better understand familial subarachnoid hemorrhage (SAH), we studied a series of patients with SAH who had at least one first-degree relative with SAH, and compared our results with those of previous studies. Methods : We identified patients treated for SAH at our hospital between January 1993 and October 2006 and analyzed those patients with one or more first-degree relatives with SAH. We retrospectively collected data from patients with a family history and searched for patients who had relatives with aneurysms or who had been treated at other hospitals for SAH. Results : We identified 12 patients from six families with at least two first-degree relatives with SAH. All patients had affected first-degree relatives; in five families, they were siblings. The mean age at the time of rupture was 49.75 years; in four families, the age difference was within 5 years. In five patients (42%), the aneurysm was located in the middle cerebral artery. Only one patient had an aneurysm in the anterior communicating artery. Conclusion : In agreement with previous studies, our results showed that familial aneurysms, in comparison with non-familiar aneurysms, ruptured at a younger age and smaller size, had a high incidence in the middle cerebral artery, and were underrepresented in the anterior communicating artery. Interestingly, the age at the time of rupture was similar between relatives. Screening should be considered in the fifth or sixth decade for those who have a sibling with SAH.

• Korean Journal of Radiology
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• 제23권1호
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• pp.101-111
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• 2022

Objective: Familial intracranial aneurysms (FIAs) are found in approximately 6%-20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA. Materials and Methods: Among the 26 families in our institutional database with two or more IA-affected first-degree relatives, three families that were genetically enriched (multiple, early onset, or common site involvement within the families) for IA were selected for WES. Filtering strategies, including a family-based approach and knowledge-based prioritization, were applied to derive possible IA-associated variants from the families. A chromosomal microarray was performed to detect relatively large chromosomal abnormalities. Results: Thirteen individuals from the three families were sequenced, of whom seven had IAs. We noted three rare, potentially deleterious variants (PLOD3 c.1315G>A, NTM c.968C>T, and CHST14 c.58C>T), which are the most promising candidates among the 11 potential IA-associated variants considering gene-phenotype relationships, gene function, co-segregation, and variant pathogenicity. Microarray analysis did not reveal any significant copy number variants in the families. Conclusion: Using WES, we found that rare, potentially deleterious variants in PLOD3, NTM, and CHST14 genes are likely responsible for the subsets of FIAs in a cohort of Korean families.

• Korean Journal of Radiology
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• 제23권5호
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• pp.568-569
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• 2022