COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neural tumors has been described. Here, we report a Japanese family with a novel COL4A1 variant, including a patient with recurrent epistaxis and glioblastoma.

中文翻译：

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与复发性鼻出血和胶质母细胞瘤相关的新型 COL4A1 变体

与其他遗传性脑小血管疾病相比， COL4A1相关疾病的特征是脑出血的发生率更高。越来越多的数据显示出广泛的表型变异，并且脑外出血与这些疾病有关。此外，已经描述了神经肿瘤的共存。在这里，我们报告了一个具有新型COL4A1变异的日本家庭，包括一名患有复发性鼻出血和胶质母细胞瘤的患者。