雑誌文献を検索します。書籍を検索する際には「書籍検索」を選択してください。

BRAIN and NERVE Volume 69, Issue 1 （January 2017）

BRAIN and NERVE 69巻1号（2017年1月発行）

Japanese English

特集近年注目されている白質脳症

CARASIL—（Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy） Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) 上村昌寛 ¹ , 野崎洋明 ² , 小野寺理 ¹ Masahiro Uemura ¹ , Hiroaki Nozaki ² , Osamu Onodera ¹ ¹新潟大学脳研究所臨床神経科学部門神経内科学分野 ²新潟大学大学院保健学研究科検査技術科学分野 ¹Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University ²Department of Medical Technology, Graduate School of Health Sciences, Niigata University キーワード：脳小血管病 , HTRA1 , 血管性認知症 , 優性阻害効果 , cerebral small vessel disease , HTRA1 mutations , vascular dementia , dominant-negative effect Keyword: 脳小血管病 , HTRA1 , 血管性認知症 , 優性阻害効果 , cerebral small vessel disease , HTRA1 mutations , vascular dementia , dominant-negative effect pp.25-33

発行日 2017年1月1日 Published Date 2017/1/1

DOI https://doi.org/10.11477/mf.1416200631

PDF(2368KB)

有料閲覧

Abstract 文献概要
1ページ目 Look Inside
参考文献 Reference

CARASIL（cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy）は本邦で発見され，疾患概念が確立された疾患である。近年，優性遺伝形式での発症例が報告され，その疾患概念が大きく変化した。本論では臨床的に広がりをみせるCARASILについて，最新の知見を交えて詳述する。

Abstract

Cerebral small vessel disease (CSVD) is frequently observed among the elderly and is known to cause dementia and gait disturbance associated with white matter lesions, lacunar infarcts, and cerebral hemorrhage. Molecular mechanistic studies promise to provide new insights into the pathogenesis of hereditary CSVD. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is one of the hereditary CSVDs caused by a mutation in the high-temperature requirement serine peptidase A1 (HTRA1) gene. The loss of HTRA1 protease activity increases signaling via transforming growth factor (TGF)β, thereby resulting in CARASIL. Although the CARASIL has been characterized by juvenile onset alopecia and spondylosis deformans, these features are not always observed in individuals with an HTRA1 mutation. Moreover, some HTRA1 mutations cause CSVD in heterozygous states. Therefore, the clinical features of CSVD resulting from an HTRA1 mutation extend to patients with CSVD alone or to those with dominantly inherited CSVD.