单基因遗传性脑血管病的分类和诊断
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摘要
脑血管病是一种高发病率、高致残性、高死亡率的疾病,其最常见的相关危险因素包括老龄、高血压病、糖尿病、心房颤动、血脂代谢异常、不良生活习惯等。目前认为约5%~10%的脑血管病可归因于单基因遗传病,这类患者常表现为中青年起病的缺血性或出血性卒中,出现一列中枢神经系统受累症状,常伴有多系统损害特点。本文拟从脑血管病发病的病理生理机制角度对单基因遗传性脑血管病进行分类,并对其代表性病种进行综述。
Cerebrovascular disease is a disorder with high incidence,high disability and high mortality.The most common risk factors associated with cerebrovascular disease include aging,hypertension,diabetes,atrial fibrillation,dyslipidemia,bad living habits and so on.It is currently believed that about 5%-10% of cerebrovascular diseases can be attributed to monogenic hereditary diseases.Such patients often show ischemic or hemorrhagic stroke with onset of middle-aged and young age,often accompanied by multi-system involvements.In this paper,we classified the monogenic hereditary cerebrovascular diseases from the perspective of the pathophysiology,and then review the representative hereditary cerebrovascular diseases.
Cerebrovascular disease is a disorder with high incidence,high disability and high mortality.The most common risk factors associated with cerebrovascular disease include aging,hypertension,diabetes,atrial fibrillation,dyslipidemia,bad living habits and so on.It is currently believed that about 5%-10% of cerebrovascular diseases can be attributed to monogenic hereditary diseases.Such patients often show ischemic or hemorrhagic stroke with onset of middle-aged and young age,often accompanied by multi-system involvements.In this paper,we classified the monogenic hereditary cerebrovascular diseases from the perspective of the pathophysiology,and then review the representative hereditary cerebrovascular diseases.
引文
[1]S?ndergaard CB,Nielsen JE,Hansen CK,et al.Hereditary cerebral small vessel disease and stroke[J].Clin Neurol Neurosurg,2017,155:45-57.
[2]Verdura E,HerveD,Scharrer E,et al.Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease[J].Brain,2015,138(Pt 8):2347-2358.
[3]Wang G,Jacquet L,Karamariti E,et al.Origin and differentiation of vascular smooth muscle cells[J].J Physiol,2015,593(14):3013-3030.
[4]Arima K,Yanagawa S,Ito N,et al.Cerebral arterial pathology of CADASIL and CARASIL(Maeda syndrome)[J].Neuropathology,2003,23(4):327-334.
[5]Tan RYY,Markus HS.Monogenic causes of stroke:now and the future[J].J Neurol,2015,262(12):2601-2616.
[6]Fukutake T.Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL):from discovery to gene identification[J].J Stroke Cerebrovasc Dis,2011,20(2):85-93.
[7]Mendioroz M,Fernandezcadenas I,Ríoespinola AD,et al.A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population[J].Neurology,2010,75(22):2033-2035.
[8]Low W,Junna MHA,Morris C,et al.Hereditary multiinfarct dementia of the Swedish type is a novel disorder different from NOTCH3causing CADASIL[J].Brain,2007,130(Pt 2):357-367.
[9]Craggs LJ,Hagel C,Kuhlenbaeumer G,et al.Quantitative vascular pathology and phenotyping familial and sporadic cerebral small vessel diseases[J].Brain Pathol,2013,23(5):547-557.
[10]Qureshi IA,Rodriguez GJ,Chacon-Quesada T,et al.Cervical arterial fibromuscular dysplasia in a biethnic population:a retrospective study in the U.S.-Mexican border[J].Int J Angiol,2017,26(4):253-258.
[11]Tasaki T,Hatanaka K,Kirishima M,et al.Aortic fibromuscular dysplasia complicated by dissection:a case report and review of literature[J].Cardiovasc Pathol,2017,31(6):41-46.
[12]Rahimi N.Defenders and challengers of endothelial barrier function[J].Front Immunol,2017,8:1847.
[13]Yamamoto Y,Craggs L,Baumann M,et al.Review:molecular genetics and pathology of hereditary small vessel diseases of the brain[J].Neuropathol Appl Neurobiol,2011,37(1):94-113.
[14]Stam AH,Kothari PH,Shaikh A,et al.Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations[J].Brain,2016,139(11):2909-2922.
[15]Tamura R,Ohira T,Emoto K,et al.Leukoencephalopathy,cerebral calcifications,and cysts:a clinical case involving a long-term follow-up and literature review[J].J Neurol Sci,2017,373:60-65.
[16]Li Z,Han K,Yao W,et al.Adult-onset leukoencephalopathy with calcifications and cysts:focusing on hemorrhagic propensity and cysts development[J].World Neurosurg,2016,85:366.e9-13.
[17]Srinivasan J,Leventer RJ,Kornberg AJ,et al.Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation[J].Pediatr Neurol,2008,8(4):293-295.
[18]Lu YY,Ly H,Jin S,et al.Clinical and genetic features of Chinese X-linked charcot-marie-tooth type 1disease[J].Chin Med J(Engl),2017,130(9):1049-1054.
[19]Mohammadipanah F,Salimi F.Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome[J].Chem Biol Drug Des,2017,91(2):359-369.
[20]Sudarsanam A,Ardern-Holmes SL.Sturge–Weber syndrome:From the past to the present[J].Eur J Paediatr Neurol,2014,18(3):257-266.
[21]Rocha SF,Adams RH.Molecular differentiation and specialization of vascular beds[J].Angiogenesis,2009,12(2):139-147.
[22]Charidimou A.Sporadic cerebral amyloid angiopathy revisited:recent insight into pathophysiology and clinical spectrum[J].J Neurol Neurosurg Psychiatry,2012,83(2):124-137.
[23]Block F.Zerebrale amyloidangiopathie:cerebral amyloid angiopathy[J].Nervenarzt,2011,82(2):202-206.
[24]Boulouis G,Edjlali-Goujon M,Moulin S,et al.MRI for in vivo diagnosis of cerebral amyloid angiopathy:tailoring artifacts to image hemorrhagic biomarkers[J].Rev Neurol(Paris),2017,173(9):554-561.
[25]Khoshnoodi J,Pedchenko V,Hudson BG.Mammalian collagen IV[J].Microsc Res Tech,2008,71(5):357-370.
[26]Volonghi I,Pezzini A,Del ZE,et al.Role of COL4A1in basement-membrane integrity and cerebral small-vessel disease.The COL4A1stroke syndrome[J].Curr Med Chem,2010,17(13):1317-1324.
[27]Ha TT,Sadleir LG,Mandelstam SA,et al.A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts[J].Am J Med Genet A,2016,170A(4):1059-1063.
[28]Karagülle TA,Karadaˇg D,Erden A,et al.Sneddon's syndrome:MR imaging findings[J].Eur Radiol,2002,12(1):144-146.
[29]Daoud MS,Wilmoth GJ,Su WP,et al.Sneddon syndrome[J].Semin Dermatol,1995,14(2):166-172.
[30]Bergen A,Plomp AS,Hu X,et al.ABCC6 and pseudoxanthoma elasticum[J].Pflugers Arch,2007,453(5):685-691.
[31]Faust I,Donhauser E,Fischer B,et al.Characterization of dermal myofibroblast differentiation in pseudoxanthoma elasticum[J].Exp Cell Res,2017,360(2):153-162.
[32]Draoui N,de Zeeuw P,Carmeliet P.Angiogenesis revisited from a metabolic perspective:role and therapeutic implications of endothelial cell metabolism[J].Open Biol,2017,7(12):pii:170219.
[33]Ohama E,Ohara S,Ikuta F,et al.Mitochondrial angiopathy in the cerebral blood vessels of MELAS(mitochondrial myopathy,encephalopathy,lactic acidosis and strokelike episodes)[J].No To Shinkei,1988,40(2):109-118.
[34]El-Hattab AW,Adesina AM,Jones J,et al.MELAS syndrome:clinical manifestations,pathogenesis,and treatment options[J].Mol Genet Metab,2015,116(1-2):4-12.
[35]Popli S,Leehey DJ,Molnar ZV,et al.Demonstration of Fabry's disease deposits in placenta[J].Am J Obstet Gynecol,1990,62(2):464-465.
[36]Hsu TR,Niu DM.Fabry disease:review and experience during newborn screening[J].Trends Cardiovasc Med,2017,Oct 20.[Epub ahead of print].
[37]Bugiani M,Kevelam SH,Bakels HS,et al.Cathepsin Arelated arteriopathy with strokes and leukoencephalopathy(CARASAL)[J].Neurology,2016,87(17):1777-1786.
[38]Sato Y,Kobayashi H,Higuchi T,et al.Metabolomic Profiling of pompe disease-induced pluripotent stem cellderived cardiomyocytes reveals that oxidative stress is associated with cardiac and skeletal muscle pathology[J].Stem Cells Transl Med,2017,6(1):31-39.
[39]Schoser B,Stewart A,Kanters S,et al.Survival and longterm outcomes in late-onset Pompe disease following alglucosidase alfa treatment:a systematic review and metaanalysis[J].J Neurol,2017,264(4):621-630.
[40]Huemer M,Diodato D,Schwahn B,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC,cblD,cblE,cblF,cblG,cblJ and MTHFR deficiency[J].J Inherit Metab Dis,2017,40(1):21-48.
[41]Fischer S,Huemer M,Baumgartner M,et al.Clinical presentation and outcome in a series of 88patients with the cblC defect[J].J Inherit Metab Dis,2014,7(5):831-840.
[42]Spreckelsen NV,Krischek B.The different forms of moyamoya disease and their clinical management[J].Appl Clin Gene,2015,8:49-68.
[43]Kim EH,Yum MS,Ra YS,et al.Importance of RNF213polymorphism on clinical features and long-term outcome in moyamoya disease[J].J Neurosurg,2016,124(5):1221-1227.
[44]Ene C,Kaul A,Kim L.Natural history of cerebral cavernous malformations[J].Handb Clin Neurol,2017,143:227-232.
[45]Yang C,Zhao J,Wu B,et al.Identification of a novel deletion mutation(c.1780delG)and a novel splice-site mutation(c.1412-1G>A)in the CCM1/KRIT1gene associated with familial cerebral cavernous malformation in the Chinese Population[J].J Mol Neurosci,2017,61(1):8-15.
[46]Freitas SLF,Ivo ML,Figueiredo MS,et al.Quality of life in adults with sickle cell disease:an integrative review of the literature[J].Rev Bras Enferm,2018,71(1):195-205.
[47]Santos P,Passos CP,Aguiar MC,et al.Prevalence of orofacial alterations in sickle cell disease:a review of literature[J].Braz J Oral Sci,2013,12(3):153-157.
[48]Cazabat L,Ragazzon B,Varin A,et al.Inactivation of the Carney complex gene 1(PRKAR1A)alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase:a study using genetically encoded FRET-based reporters[J].Hum Mol Genet,2014,23(5):1163-1174.
[49]Bandettini WP,Karageorgiadis AS,Sinaii N,et al.Growth hormone and risk for cardiac tumors in Carney complex[J].Endocr Relat Cancer,2016,23(9):739-746.
[50]Seligsohn U,Lubetsky A.Genetic susceptibility to venous thrombosis[J].N Engl J Med,2001,344(16):1222-1231.
[51]Sabzi F,Faraji R.Cerebral vein thrombosis post cabg precipitated by malposition of subclavian central catheter in protein C&S deficiency patient[J].Ethiop J Health Sci,2015,25(3):283-288.
[2]Verdura E,HerveD,Scharrer E,et al.Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease[J].Brain,2015,138(Pt 8):2347-2358.
[3]Wang G,Jacquet L,Karamariti E,et al.Origin and differentiation of vascular smooth muscle cells[J].J Physiol,2015,593(14):3013-3030.
[4]Arima K,Yanagawa S,Ito N,et al.Cerebral arterial pathology of CADASIL and CARASIL(Maeda syndrome)[J].Neuropathology,2003,23(4):327-334.
[5]Tan RYY,Markus HS.Monogenic causes of stroke:now and the future[J].J Neurol,2015,262(12):2601-2616.
[6]Fukutake T.Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL):from discovery to gene identification[J].J Stroke Cerebrovasc Dis,2011,20(2):85-93.
[7]Mendioroz M,Fernandezcadenas I,Ríoespinola AD,et al.A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population[J].Neurology,2010,75(22):2033-2035.
[8]Low W,Junna MHA,Morris C,et al.Hereditary multiinfarct dementia of the Swedish type is a novel disorder different from NOTCH3causing CADASIL[J].Brain,2007,130(Pt 2):357-367.
[9]Craggs LJ,Hagel C,Kuhlenbaeumer G,et al.Quantitative vascular pathology and phenotyping familial and sporadic cerebral small vessel diseases[J].Brain Pathol,2013,23(5):547-557.
[10]Qureshi IA,Rodriguez GJ,Chacon-Quesada T,et al.Cervical arterial fibromuscular dysplasia in a biethnic population:a retrospective study in the U.S.-Mexican border[J].Int J Angiol,2017,26(4):253-258.
[11]Tasaki T,Hatanaka K,Kirishima M,et al.Aortic fibromuscular dysplasia complicated by dissection:a case report and review of literature[J].Cardiovasc Pathol,2017,31(6):41-46.
[12]Rahimi N.Defenders and challengers of endothelial barrier function[J].Front Immunol,2017,8:1847.
[13]Yamamoto Y,Craggs L,Baumann M,et al.Review:molecular genetics and pathology of hereditary small vessel diseases of the brain[J].Neuropathol Appl Neurobiol,2011,37(1):94-113.
[14]Stam AH,Kothari PH,Shaikh A,et al.Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations[J].Brain,2016,139(11):2909-2922.
[15]Tamura R,Ohira T,Emoto K,et al.Leukoencephalopathy,cerebral calcifications,and cysts:a clinical case involving a long-term follow-up and literature review[J].J Neurol Sci,2017,373:60-65.
[16]Li Z,Han K,Yao W,et al.Adult-onset leukoencephalopathy with calcifications and cysts:focusing on hemorrhagic propensity and cysts development[J].World Neurosurg,2016,85:366.e9-13.
[17]Srinivasan J,Leventer RJ,Kornberg AJ,et al.Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation[J].Pediatr Neurol,2008,8(4):293-295.
[18]Lu YY,Ly H,Jin S,et al.Clinical and genetic features of Chinese X-linked charcot-marie-tooth type 1disease[J].Chin Med J(Engl),2017,130(9):1049-1054.
[19]Mohammadipanah F,Salimi F.Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome[J].Chem Biol Drug Des,2017,91(2):359-369.
[20]Sudarsanam A,Ardern-Holmes SL.Sturge–Weber syndrome:From the past to the present[J].Eur J Paediatr Neurol,2014,18(3):257-266.
[21]Rocha SF,Adams RH.Molecular differentiation and specialization of vascular beds[J].Angiogenesis,2009,12(2):139-147.
[22]Charidimou A.Sporadic cerebral amyloid angiopathy revisited:recent insight into pathophysiology and clinical spectrum[J].J Neurol Neurosurg Psychiatry,2012,83(2):124-137.
[23]Block F.Zerebrale amyloidangiopathie:cerebral amyloid angiopathy[J].Nervenarzt,2011,82(2):202-206.
[24]Boulouis G,Edjlali-Goujon M,Moulin S,et al.MRI for in vivo diagnosis of cerebral amyloid angiopathy:tailoring artifacts to image hemorrhagic biomarkers[J].Rev Neurol(Paris),2017,173(9):554-561.
[25]Khoshnoodi J,Pedchenko V,Hudson BG.Mammalian collagen IV[J].Microsc Res Tech,2008,71(5):357-370.
[26]Volonghi I,Pezzini A,Del ZE,et al.Role of COL4A1in basement-membrane integrity and cerebral small-vessel disease.The COL4A1stroke syndrome[J].Curr Med Chem,2010,17(13):1317-1324.
[27]Ha TT,Sadleir LG,Mandelstam SA,et al.A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts[J].Am J Med Genet A,2016,170A(4):1059-1063.
[28]Karagülle TA,Karadaˇg D,Erden A,et al.Sneddon's syndrome:MR imaging findings[J].Eur Radiol,2002,12(1):144-146.
[29]Daoud MS,Wilmoth GJ,Su WP,et al.Sneddon syndrome[J].Semin Dermatol,1995,14(2):166-172.
[30]Bergen A,Plomp AS,Hu X,et al.ABCC6 and pseudoxanthoma elasticum[J].Pflugers Arch,2007,453(5):685-691.
[31]Faust I,Donhauser E,Fischer B,et al.Characterization of dermal myofibroblast differentiation in pseudoxanthoma elasticum[J].Exp Cell Res,2017,360(2):153-162.
[32]Draoui N,de Zeeuw P,Carmeliet P.Angiogenesis revisited from a metabolic perspective:role and therapeutic implications of endothelial cell metabolism[J].Open Biol,2017,7(12):pii:170219.
[33]Ohama E,Ohara S,Ikuta F,et al.Mitochondrial angiopathy in the cerebral blood vessels of MELAS(mitochondrial myopathy,encephalopathy,lactic acidosis and strokelike episodes)[J].No To Shinkei,1988,40(2):109-118.
[34]El-Hattab AW,Adesina AM,Jones J,et al.MELAS syndrome:clinical manifestations,pathogenesis,and treatment options[J].Mol Genet Metab,2015,116(1-2):4-12.
[35]Popli S,Leehey DJ,Molnar ZV,et al.Demonstration of Fabry's disease deposits in placenta[J].Am J Obstet Gynecol,1990,62(2):464-465.
[36]Hsu TR,Niu DM.Fabry disease:review and experience during newborn screening[J].Trends Cardiovasc Med,2017,Oct 20.[Epub ahead of print].
[37]Bugiani M,Kevelam SH,Bakels HS,et al.Cathepsin Arelated arteriopathy with strokes and leukoencephalopathy(CARASAL)[J].Neurology,2016,87(17):1777-1786.
[38]Sato Y,Kobayashi H,Higuchi T,et al.Metabolomic Profiling of pompe disease-induced pluripotent stem cellderived cardiomyocytes reveals that oxidative stress is associated with cardiac and skeletal muscle pathology[J].Stem Cells Transl Med,2017,6(1):31-39.
[39]Schoser B,Stewart A,Kanters S,et al.Survival and longterm outcomes in late-onset Pompe disease following alglucosidase alfa treatment:a systematic review and metaanalysis[J].J Neurol,2017,264(4):621-630.
[40]Huemer M,Diodato D,Schwahn B,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC,cblD,cblE,cblF,cblG,cblJ and MTHFR deficiency[J].J Inherit Metab Dis,2017,40(1):21-48.
[41]Fischer S,Huemer M,Baumgartner M,et al.Clinical presentation and outcome in a series of 88patients with the cblC defect[J].J Inherit Metab Dis,2014,7(5):831-840.
[42]Spreckelsen NV,Krischek B.The different forms of moyamoya disease and their clinical management[J].Appl Clin Gene,2015,8:49-68.
[43]Kim EH,Yum MS,Ra YS,et al.Importance of RNF213polymorphism on clinical features and long-term outcome in moyamoya disease[J].J Neurosurg,2016,124(5):1221-1227.
[44]Ene C,Kaul A,Kim L.Natural history of cerebral cavernous malformations[J].Handb Clin Neurol,2017,143:227-232.
[45]Yang C,Zhao J,Wu B,et al.Identification of a novel deletion mutation(c.1780delG)and a novel splice-site mutation(c.1412-1G>A)in the CCM1/KRIT1gene associated with familial cerebral cavernous malformation in the Chinese Population[J].J Mol Neurosci,2017,61(1):8-15.
[46]Freitas SLF,Ivo ML,Figueiredo MS,et al.Quality of life in adults with sickle cell disease:an integrative review of the literature[J].Rev Bras Enferm,2018,71(1):195-205.
[47]Santos P,Passos CP,Aguiar MC,et al.Prevalence of orofacial alterations in sickle cell disease:a review of literature[J].Braz J Oral Sci,2013,12(3):153-157.
[48]Cazabat L,Ragazzon B,Varin A,et al.Inactivation of the Carney complex gene 1(PRKAR1A)alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase:a study using genetically encoded FRET-based reporters[J].Hum Mol Genet,2014,23(5):1163-1174.
[49]Bandettini WP,Karageorgiadis AS,Sinaii N,et al.Growth hormone and risk for cardiac tumors in Carney complex[J].Endocr Relat Cancer,2016,23(9):739-746.
[50]Seligsohn U,Lubetsky A.Genetic susceptibility to venous thrombosis[J].N Engl J Med,2001,344(16):1222-1231.
[51]Sabzi F,Faraji R.Cerebral vein thrombosis post cabg precipitated by malposition of subclavian central catheter in protein C&S deficiency patient[J].Ethiop J Health Sci,2015,25(3):283-288.