遗传因素导致的脑小血管病变-CADASIL研究进展
摘要
<正>CADASIL是伴有皮质下梗死和白质脑病的常染色体显性遗传性的血管性脑病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL),是一种非动脉硬化性、非淀粉样变的全身性动脉病,其自然病程为:常在20~40岁之间出现偏头痛,40~60岁之间出现反复发作的缺血性卒中,60岁以后出现进行性智力障碍,以记忆力减退和额叶功能障碍为主,常伴有情感障碍,平
引文
[1]Chabriat H,Joutel A,Dichgans V,et al.CADASIL[J].Lancet Neurol,2009,8(7):643-653.
[2]Watanabe M,Adachi Y,Jackson M,et al.An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)with multiple cerebrovascular risk factors[J].J Stroke and Cerebrovascular Dis,2012,21(2):143-145.
[3]胡新星,秦超,程道宾,等.伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的临床特点(附1家系报告)[J].临床神经病学杂志,2013,26(4):254-256.
[4]向瑶,周珂,王国瑾.伴脑出血的CADASIL(附1例报道)[J].卒中与神经疾病杂志,2010,17(3):169-171.
[5]郑日亮,栾兴华,吕鹤,等.Notch3基因突变导致动脉平滑肌细胞蛋白表达减少[J].中华神经科杂志,2009,42(2):91-94.
[6]Brennan-Krohn T,Salloway S,Correia S,et al.Glial vascular degeneration in CADASIL[J].J Alzheimers Dis,2010,21:1393-1402.
[7]马明明,黄丽娜,张乐,等.表现为家族性偏头痛的CADASIL家系临床及病理研究[J].中风与神经病学杂志,2009,26(2):189-192.
[8]刘莹,张微微,朱光明.伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病患者脑小动脉的病理学研究[J].中国脑血管病杂志,2005,2(4):150-155.
[9]邓海霞.CADASIL研究新进展[J].医学信息,2011,24(3):1466-1468.
[10]Malandrini A,Gaudiano C,Gambelli S,et al.Diagnostic value of ultrastructral skin biopsy studies in CADASIL[J].Neurology,2007,68(17):1430-1432.
[11]黄立.CADASIL病理学研究进展[J].中风与神经疾病杂志,2009,26(4):506-508.
[12]Tikka S,Mykkanen K,Ruchoux MM,et al.Congruence between Notch3 mutations and GOM in 131 CADASIL patients[J].Brain,2009,132(4):933-939.
[13]王韵,洪道俊,赵丹华,等.中国26个常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病家系的临床和影像学特点及与其他国家患者的对比[J].中华神经科杂志,2010,43(10):697-701.
[14]李宜中,宋秉文,翁文章.常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病研究进展[J].中国卒中杂志,2011,5(7):573-578.
[15]Wang Z,Yuan Y,Zhang W,et al.NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL[J].J Neurosurg Psychiatry,2011,82:534-539.
[16]Agostoni E,Rigamonti A.Migraine and small vessel diseases[J].Neurol Sci,2012,33(1):51-54.
[17]Adib SP,Brice G,Manrin RJ,et al.Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype:study in 200consecutively recmited individua Is[J].Stroke,2010,41:630-634.
[18]Valenti R,Poggesi A,Pescini F,et al.Psychiatric disturbances in CADASIL:a brief review[J].Acta Neurol Scand,2008,118:291-295.
[19]Joost H,Saskia AJ,Lesnik O,et al.Epilepsy in cerebral autosomal dominant art eriopathy with subcortical infarcts and leukoencephalopathy[J].Cerebrovasc Dis,2007,24:316-317.
[20]饶立,李涛,王国瑾,等.以急性可逆性意识模糊或浅昏迷为主要临床表现的CADASIL(附1例报道)[J].卒中与神经疾病,2008,15(6):342-344.
[21]Oh JH,Lee JS,Kang SY,et al.Aspirin-associated in tracereb ralhemorrhage in a patient with CADASIL[J].Clinneurol Neurosurg,2008,110(4):384-386.
[22]唐晓梅,杨静芳,冯秀丽,等.伴皮质下梗死及白质脑病常染色体显性遗传性脑动脉病的NOTCH3基因诊断[J].临床神经病学杂志,2008,21(3):164-167.
[23]Dichgans M,Petersen D.Angiographic complications in CADASIL[J].Lancet,1997,349:776-777.
[24]Pantoni L.Cerebral small vessel disease:from pathogenesis and clinical characteristics to therapeutic challenges[J].The Lancet Neurology,2010,9(7):689-701.
[25]黄立,杨期东,陈璇.西洛他唑治疗CADASIL临床研究[J].中风与神经疾病杂志,2010,27(3):263-265.
[2]Watanabe M,Adachi Y,Jackson M,et al.An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)with multiple cerebrovascular risk factors[J].J Stroke and Cerebrovascular Dis,2012,21(2):143-145.
[3]胡新星,秦超,程道宾,等.伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的临床特点(附1家系报告)[J].临床神经病学杂志,2013,26(4):254-256.
[4]向瑶,周珂,王国瑾.伴脑出血的CADASIL(附1例报道)[J].卒中与神经疾病杂志,2010,17(3):169-171.
[5]郑日亮,栾兴华,吕鹤,等.Notch3基因突变导致动脉平滑肌细胞蛋白表达减少[J].中华神经科杂志,2009,42(2):91-94.
[6]Brennan-Krohn T,Salloway S,Correia S,et al.Glial vascular degeneration in CADASIL[J].J Alzheimers Dis,2010,21:1393-1402.
[7]马明明,黄丽娜,张乐,等.表现为家族性偏头痛的CADASIL家系临床及病理研究[J].中风与神经病学杂志,2009,26(2):189-192.
[8]刘莹,张微微,朱光明.伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病患者脑小动脉的病理学研究[J].中国脑血管病杂志,2005,2(4):150-155.
[9]邓海霞.CADASIL研究新进展[J].医学信息,2011,24(3):1466-1468.
[10]Malandrini A,Gaudiano C,Gambelli S,et al.Diagnostic value of ultrastructral skin biopsy studies in CADASIL[J].Neurology,2007,68(17):1430-1432.
[11]黄立.CADASIL病理学研究进展[J].中风与神经疾病杂志,2009,26(4):506-508.
[12]Tikka S,Mykkanen K,Ruchoux MM,et al.Congruence between Notch3 mutations and GOM in 131 CADASIL patients[J].Brain,2009,132(4):933-939.
[13]王韵,洪道俊,赵丹华,等.中国26个常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病家系的临床和影像学特点及与其他国家患者的对比[J].中华神经科杂志,2010,43(10):697-701.
[14]李宜中,宋秉文,翁文章.常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病研究进展[J].中国卒中杂志,2011,5(7):573-578.
[15]Wang Z,Yuan Y,Zhang W,et al.NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL[J].J Neurosurg Psychiatry,2011,82:534-539.
[16]Agostoni E,Rigamonti A.Migraine and small vessel diseases[J].Neurol Sci,2012,33(1):51-54.
[17]Adib SP,Brice G,Manrin RJ,et al.Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype:study in 200consecutively recmited individua Is[J].Stroke,2010,41:630-634.
[18]Valenti R,Poggesi A,Pescini F,et al.Psychiatric disturbances in CADASIL:a brief review[J].Acta Neurol Scand,2008,118:291-295.
[19]Joost H,Saskia AJ,Lesnik O,et al.Epilepsy in cerebral autosomal dominant art eriopathy with subcortical infarcts and leukoencephalopathy[J].Cerebrovasc Dis,2007,24:316-317.
[20]饶立,李涛,王国瑾,等.以急性可逆性意识模糊或浅昏迷为主要临床表现的CADASIL(附1例报道)[J].卒中与神经疾病,2008,15(6):342-344.
[21]Oh JH,Lee JS,Kang SY,et al.Aspirin-associated in tracereb ralhemorrhage in a patient with CADASIL[J].Clinneurol Neurosurg,2008,110(4):384-386.
[22]唐晓梅,杨静芳,冯秀丽,等.伴皮质下梗死及白质脑病常染色体显性遗传性脑动脉病的NOTCH3基因诊断[J].临床神经病学杂志,2008,21(3):164-167.
[23]Dichgans M,Petersen D.Angiographic complications in CADASIL[J].Lancet,1997,349:776-777.
[24]Pantoni L.Cerebral small vessel disease:from pathogenesis and clinical characteristics to therapeutic challenges[J].The Lancet Neurology,2010,9(7):689-701.
[25]黄立,杨期东,陈璇.西洛他唑治疗CADASIL临床研究[J].中风与神经疾病杂志,2010,27(3):263-265.