Analysis of pathophysiology of hereditary cerebral amyloid angiopathy associated with amyloidgenic transthyretin Y114C

淀粉样变甲状腺素运载蛋白Y114C相关遗传性脑淀粉样血管病的病理生理学分析

• 批准号: 23500430
• 负责人: YAMASHITA Taro
• 金额: $ 3.16万
• 依托单位: Kumamoto University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23500430/
• 关键词: 脳アミロド血管症; トランスサイレチン; 認知症; 脳出血; 脳血管透過性亢進; 肝移植; 治療; 脳アミロイド血管症; 血管透過性亢進; 微小脳出血; 脳血管炎; アミロイド血管症

Patients with amyloidogenic transthyretin (TTR) Y114C develop amyloid deposits in cerebral blood vessels, cerebral hemorrhage, and rapidly progressive dementia that presents with hereditary cerebral amyloid angiopathy (CAA). MRI studies with FLAIR images after Gd administration showed Gd leakage into the subarachnoid space. The pathogenesis of CNS disorders may reflect disruption of the blood-CSF barrier and blood-brain barrier by amyloid deposition. The mortality and occurrence of cerebral hemorrhage and dementia in patients having transplantations were reduced compared with those in patients not having transplantations. The group undergoing transplantations had significantly smaller volumes of intracranial hemorrhage than did the no-transplantation group. Liver transplantation was effective for CNS manifestations of cerebral amyloid angiopathy associated with amyloidogenic transthyretin Y114C.

具有淀粉样甲状腺素运载蛋白（TTR）Y114 C的患者在脑血管中发生淀粉样蛋白沉积、脑出血和表现为遗传性脑淀粉样血管病（CAA）的快速进行性痴呆。Gd给药后的MRI FLAIR图像显示Gd泄漏到蛛网膜下腔。CNS疾病的发病机制可能反映淀粉样蛋白沉积对血-CSF屏障和血-脑屏障的破坏。与未接受移植的患者相比，接受移植的患者的死亡率、脑出血和痴呆的发生率降低。接受移植组的颅内出血量明显少于未接受移植组。肝移植对与淀粉样甲状腺素运载蛋白Y114 C相关的脑淀粉样血管病的CNS表现有效。

项目成果

Impact of antibodies against amyloidogenic transthyretin (ATTR) on phenotypes of patients with familial amyloidotic polyneuropathy (FAP) ATTR Valine30Methionine

抗淀粉样变性甲状腺素运载蛋白 (ATTR) 抗体对家族性淀粉样变性多发性神经病 (FAP) 患者表型的影响 ATTR Valine30 蛋氨酸

• DOI: 10.1016/j.cca.2013.02.002
• 发表时间: 2013
• 期刊: Clin Chim Acta
• 影响因子: 5
• 作者: Obayashi K;Tasaki M;Jono H;Ueda M;Shinriki S;Misumi Y;Yamashita T;Oshima T;Nakamura T;Ikemizu S;Anan I;Suhr O;Ando Y
• 通讯作者: Ando Y

Relationship between amyloid deposition and intracellular structural changes in familial amyloidotic polyneuropathy

家族性淀粉样变性多发性神经病淀粉样蛋白沉积与细胞内结构变化的关系

• DOI: 10.1016/j.humpath.2011.01.036
• 发表时间: 2012
• 期刊: Hum Pathol
• 影响因子: 3.3
• 作者: Misumi Y;Ueda M;Obayashi K;Jono H;Su Y;Yamashita T;Ohshima T;Ando Y;Uchino M
• 通讯作者: Uchino M

Effect of liver transplantation on the survival of patients with ordinary onset familial amyloid polyneuropathy in Japan

肝移植对日本普通型家族性淀粉样多发性神经病患者生存的影响

• DOI: 10.3109/13506129.2011.574354069
• 发表时间: 2011
• 期刊: Amyloid
• 影响因子: 5.5
• 作者: Yamashita T;Ando Y;Okamoto S;Yohei M;Hitahara T;Ueda M;Obayashi K;Nakamura M;Jono H;Asonuma K;Inomata Y;Uchino M
• 通讯作者: Uchino M

ATTR Y114C型脳アミロイド血管症剖検例における神経病理学的検討

ATTR Y114C型脑淀粉样血管病尸检病例神经病理学检查

• 发表时间: 2013
• 作者: 山下太郎;大嶋俊範;田崎雅義;道鬼つかさ;三隅洋平;神力 悟，植田光晴，城野博史，大林光念;山下賢;前田寧;安東由喜雄
• 通讯作者: 安東由喜雄

Effect of Liver Transplantation on Peripheral Neuropathy of Familial Amyloid Polyneuropathy V30M

肝移植对家族性淀粉样多发性神经病V30M周围神经病变的影响

• 发表时间: 2011
• 作者: Yamashita T;Oshima T;Okumur K;Nagatoshi A;Misumi M;Okamoto S;Ueda A;Ueda M;Obayashi K;Nakamura M;Jono H;Shono M;Asonuma K;Ando Y;Inomata Y
• 通讯作者: Inomata Y