Uemura Masahiro, Tanaka Natsuki, Ando Shoichiro, Yanagihara Takehiko, Onodera Osamu
Department of Neurology, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.
Department of Neurology, Tane General Hospital, Osaka 550-0025, Japan.
Neurol Int. 2024 Feb 1;16(1):226-238. doi: 10.3390/neurolint16010015.
Although cerebral aneurysm (CA) is a defining complication of -related vasculopathy, the specific factors influencing its onset remain uncertain. This study aimed to identify and analyze these factors.
We described a family presenting with a novel variant of the gene complicated with CA. Concurrently, an exhaustive review of previously documented patients with -related vasculopathy was conducted by sourcing data from PubMed, Web of Science, Google Scholar, and Ichushi databases. We compared the variant types and locations between patients with CA (positive group) and those without CA (negative group).
This study included 53 variants from 76 patients. Except for one start codon variant, all the identified variants in CA were missense variants. Otherwise, CA was not associated with other clinical manifestations, such as small-vessel disease or other large-vessel abnormalities. A higher frequency of missense variants (95.5% vs. 58.1%, = 0.0035) was identified in the CA-positive group.
CA development appears to necessitate qualitative alterations in , and the underlying mechanism seems independent of small-vessel disease or other large-vessel anomalies. Our findings suggest that a meticulous evaluation of CA is necessary when missense variants in are identified.
尽管脑动脉瘤（CA）是与 -相关血管病变的典型并发症，但其发病的具体影响因素仍不明确。本研究旨在识别并分析这些因素。
我们描述了一个患有与CA相关的该基因新型变异体的家系。同时，通过从PubMed、科学网、谷歌学术和Ichushi数据库获取数据，对先前记录的与 -相关血管病变患者进行了详尽回顾。我们比较了CA患者（阳性组）和无CA患者（阴性组）的变异类型和位置。
本研究纳入了76例患者的53个 变异体。除一个起始密码子变异体外，在CA中鉴定出的所有变异体均为错义变异体。此外，CA与其他临床表现无关，如小血管疾病或其他大血管异常。在CA阳性组中鉴定出更高频率的错义变异体（95.5%对58.1%， = 0.0035）。
CA的发生似乎需要 发生质性改变，其潜在机制似乎独立于小血管疾病或其他大血管异常。我们的研究结果表明，当在 中鉴定出错义变异体时，有必要对CA进行细致评估。
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