Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation
Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation
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DOI：
10.1111/neup.12473
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发表时间：
2018-08-01
期刊：
影响因子：
2.3
通讯作者：
Kakita, Akiyoshi
中科院分区：
文献类型：
--
作者：
Ito, Junko;Nozaki, Hiroaki;Kakita, Akiyoshi
伴皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病（CARASIL）是由高温需要A丝氨酸肽酶1（HTRA 1）基因纯合或复合杂合突变引起的遗传性脑小血管病（CSVD）。受影响的患者患有认知障碍、复发性中风、腰痛和脱发。最近，临床研究表明，一些HTRA1杂合突变的患者也可能患有CSVD。在这里，我们报告的尸检55岁的男性患者的组织病理学特征，表现出认知障碍和多发性脑梗死，并被发现有一个杂合错义突变（p.R302Q）的HTRA1基因。组织学上，脑和脊髓中的小血管显示内膜增生、内弹性膜分裂和图尼卡中膜平滑肌细胞变性。因此，虽然不太严重，但特征与CARASIL患者非常相似，表明杂合突变患者通过与CARASIL相似的潜在病理机制发展CSVD。
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary cerebral small vessel disease (CSVD) caused by homozygous or compound heterozygous mutations of the high temperature requirement A serine peptidase 1 gene (HTRA1). Affected patients suffer from cognitive impairment, recurrent strokes, lumbago and alopecia. Recently, clinical studies have indicated that some patients with heterozygous mutations in HTRA1 may also suffer CSVD. Here, we report the histopathologic features of an autopsied 55-year-old male patient who had shown cognitive impairment and multiple cerebral infarcts, and was found to have a heterozygous missense mutation (p.R302Q) in the HTRA1 gene. Histologically, small vessels in the brain and spinal cord showed intimal proliferation, splitting of the internal elastic lamina, and degeneration of smooth muscle cells in the tunica media. Thus, although less severe, the features were quite similar to those of patients with CARASIL, indicating that patients with heterozygous mutations develop CSVD through underlying pathomechanisms similar to those of CARASIL.