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[PMID]:28469098
[Au] Autor:Fang XJ; Yu M; Wu Y; Zhang ZH; Wang WW; Wang ZX; Yuan Y
[Ad] Endereço:Department of Neurology, Peking University First Hospital, Beijing 100034, China.
[Ti] Título:Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
[So] Source:Chin Med J (Engl);130(9):1042-1048, 2017 May 05.
[Is] ISSN:0366-6999
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography (EDI-OCT) to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging (MRI) findings. METHODS: Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First Hospital from January 2015 to August 2016. All patients underwent 7T-MRI of the brain. Fazekas score, number of small infarcts and microbleeds were evaluated. All patients and controls underwent EDI-OCT to measure subfoveal choroidal thickness (SFCT), inner and outer diameters as well as arterial and venous wall thickness, and arterial venous ratio of the inner (AVRin) and outer diameters (AVRout). The relation between retinal vessel changes and Fazekas scores, numbers of small infarcts, or microbleeds was analyzed. Paired t-test was used to compare the SFCT and retinal vessel measurement data between patients and controls. Spearman's correlation was used to investigate the correlation between retinal vessel changes and MRI lesions. RESULTS: In CADASIL patients, mean SFCT (268.37 ± 46.50 µm) and mean arterial inner diameter (93.46 ± 9.70 µm) were significantly lower than that in controls (P < 0.001,P = 0.048, respectively). Mean arterial outer diameter (131.74 ± 10.87 µm), venous inner (128.99 ± 13.62 µm) and outer diameter (164.82 ± 14.77 µm), and mean arterial (19.13 ± 1.85 µm) and venous (17.91 ± 2.76 µm) wall thickness were significantly higher than that in controls (P = 0.023,P = 0.004,P < 0.001,P < 0.001, respectively). Arterial inner diameter (rs= -0.39, P= 0.044), AVRin (rs= -0.65,P < 0.001), and AVRout (rs= -0.56, P= 0.002) showed a negative correlation with the number of small infarcts. Venous inner diameter (rs = 0.46, P= 0.016) showed a positive correlation with the number of small infarcts. Venous inner diameter (rs = 0.59, P= 0.002), outer diameter (rs = 0.47, P= 0.017), showed a positive correlation with the number of cerebral microbleeds (CMBs). AVRin (rs= -0.52, P= 0.007) and AVRout (rs= -0.40, P= 0.048) showed a negative correlation with the number of CMBs. CONCLUSIONS: Measurement of retinal vessels using EDI-OCT correlates moderately well with MRI parameters. EDI-OCT might be a useful evaluation tool for CADASIL patients.
[Mh] Termos MeSH primário: Leucoencefalopatias/patologia
Imagem por Ressonância Magnética/métodos
Tomografia de Coerência Óptica/métodos
[Mh] Termos MeSH secundário: Adulto
Encéfalo/metabolismo
CADASIL
Infarto Cerebral/patologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Mutação
Receptor Notch3/genética
Vasos Retinianos/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptor, Notch3)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.4103/0366-6999.204935


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[PMID]:29370179
[Au] Autor:Nannucci S; Rinnoci V; Pracucci G; MacKinnon AD; Pescini F; Adib-Samii P; Bianchi S; Dotti MT; Federico A; Inzitari D; Markus HS; Pantoni L
[Ad] Endereço:NEUROFARBA Department, University of Florence, Florence, Italy.
[Ti] Título:Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.
[So] Source:PLoS One;13(1):e0190878, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND PURPOSE: The frequency, clinical correlates, and risk factors of cerebral microbleeds (CMB) in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) are still poorly known. We aimed at determining the location and number of CMB and their relationship with clinical manifestations, vascular risk factors, drugs, and other neuroimaging features in CADASIL patients. METHODS: We collected clinical data by means of a structured proforma and centrally evaluated CMB on magnetic resonance gradient echo sequences applying the Microbleed Anatomical Rating Scale in CADASIL patients seen in 2 referral centers in Italy and United Kingdom. RESULTS: We evaluated 125 patients. CMB were present in 34% of patients and their presence was strongly influenced by the age. Twenty-nine percent of the patients had CMB in deep subcortical location, 22% in a lobar location, and 18% in infratentorial regions. After adjustment for age, factors significantly associated with a higher total number of CMB were hemorrhagic stroke, dementia, urge incontinence, and statins use (this latter not confirmed by multivariate analysis). Infratentorial and deep CMB were associated with dementia and urge incontinence, lobar CMB with hemorrhagic stroke, dementia, and statins use. Unexpectedly, patients with migraine, with or without aura, had a lower total, deep, and lobar number of CMB than patients without migraine. DISCUSSION: CMB formation in CADASIL seems to increase with age. History of hemorrhagic stroke, dementia, urge incontinence, and statins use are associated with a higher number of CMB. However, these findings need to be confirmed by longitudinal studies.
[Mh] Termos MeSH primário: CADASIL/complicações
Hemorragia Cerebral/etiologia
Hemorragia Cerebral/patologia
[Mh] Termos MeSH secundário: Adulto
Idoso
CADASIL/diagnóstico por imagem
CADASIL/tratamento farmacológico
Hemorragia Cerebral/diagnóstico por imagem
Estudos de Coortes
Estudos Transversais
Feminino
Seres Humanos
Itália
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Neuroimagem
Fatores de Risco
Reino Unido
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190878


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[PMID]:28842512
[Au] Autor:Puy L; De Guio F; Godin O; Duering M; Dichgans M; Chabriat H; Jouvent E
[Ad] Endereço:From the University Paris Diderot, Sorbonne Paris Cité, INSERM, France (L.P., F.D.G., O.G., H.C., E.J.); Department of Neurology, APHP Lariboisière Hospital, Paris, France (L.P., F.D.G., O.G., H.C., E.J.); DHU NeuroVasc Sorbonne Paris Cité, France (L.P., F.D.G., O.G., H.C., E.J.); Department of Neur
[Ti] Título:Cerebral Microbleeds and the Risk of Incident Ischemic Stroke in CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy).
[So] Source:Stroke;48(10):2699-2703, 2017 Oct.
[Is] ISSN:1524-4628
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND PURPOSE: Cerebral microbleeds are associated with an increased risk of intracerebral hemorrhage. Recent data suggest that microbleeds may also predict the risk of incident ischemic stroke. However, these results were observed in elderly individuals undertaking various medications and for whom causes of microbleeds and ischemic stroke may differ. We aimed to test the relationship between the presence of microbleeds and incident stroke in CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy)-a severe monogenic small vessel disease known to be responsible for both highly prevalent microbleeds and a high incidence of ischemic stroke in young patients. METHODS: We assessed microbleeds on baseline MRI in all 378 patients from the Paris-Munich cohort study. Incident ischemic strokes were recorded during 54 months. Survival analyses were used to test the relationship between microbleeds and incident ischemic stroke. RESULTS: Three hundred sixty-nine patients (mean age, 51.4±11.4 years) were followed-up during a median time of 39 months (interquartile range, 19 months). The risk of incident ischemic stroke was higher in patients with microbleeds than in patients without (35.8% versus 19.6%, hazard ratio, 1.87; 95% confidence interval, 1.16-3.01; =0.009). These results persisted after adjustment for history of ischemic stroke, age, sex, vascular risk factors, and antiplatelet agents use (hazard ratio, 1.89; 95% confidence interval, 1.10-3.26; =0.02). CONCLUSIONS: The presence of microbleeds is an independent risk marker of incident ischemic stroke in CADASIL, emphasizing the need to carefully interpret MRI data.
[Mh] Termos MeSH primário: Isquemia Encefálica/diagnóstico por imagem
CADASIL/diagnóstico por imagem
Hemorragia Cerebral/diagnóstico por imagem
Microvasos/diagnóstico por imagem
Acidente Vascular Cerebral/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Isquemia Encefálica/epidemiologia
CADASIL/epidemiologia
Hemorragia Cerebral/epidemiologia
Feminino
Seguimentos
Seres Humanos
Incidência
Imagem por Ressonância Magnética/métodos
Masculino
Meia-Idade
Estudos Prospectivos
Fatores de Risco
Acidente Vascular Cerebral/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170827
[St] Status:MEDLINE
[do] DOI:10.1161/STROKEAHA.117.017839


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[PMID]:28698285
[Au] Autor:Machuca-Parra AI; Bigger-Allen AA; Sanchez AV; Boutabla A; Cardona-Vélez J; Amarnani D; Saint-Geniez M; Siebel CW; Kim LA; D'Amore PA; Arboleda-Velasquez JF
[Ad] Endereço:Schepens Eye Research Institute of Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA.
[Ti] Título:Therapeutic antibody targeting of Notch3 signaling prevents mural cell loss in CADASIL.
[So] Source:J Exp Med;214(8):2271-2282, 2017 Aug 07.
[Is] ISSN:1540-9538
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a neurological syndrome characterized by small vessel disease (SVD), stroke, and vascular cognitive impairment and dementia caused by mutations in No therapies are available for this condition. Loss of mural cells, which encompass pericytes and vascular smooth muscle cells, is a hallmark of CADASIL and other SVDs, including diabetic retinopathy, resulting in vascular instability. Here, we showed that Notch3 signaling is both necessary and sufficient to support mural cell coverage in arteries using genetic rescue in Notch3 knockout mice. Furthermore, we show that systemic administration of an agonist Notch3 antibody prevents mural cell loss and modifies plasma proteins associated with Notch3 activity, including endostatin/collagen 18α1 and Notch3 extracellular domain in mice with the C455R mutation, a CADASIL variant associated with Notch3 loss of function. These findings open opportunities for the treatment of CADASIL and other SVDs by modulating Notch3 signaling.
[Mh] Termos MeSH primário: Anticorpos/uso terapêutico
CADASIL/terapia
Receptor Notch3/fisiologia
[Mh] Termos MeSH secundário: Animais
Anticorpos/imunologia
Modelos Animais de Doenças
Feminino
Masculino
Camundongos Endogâmicos C57BL
Camundongos Knockout
Camundongos Transgênicos
Músculo Liso Vascular/citologia
Músculo Liso Vascular/fisiopatologia
Pericitos/fisiologia
Receptor Notch3/imunologia
Transdução de Sinais/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies); 0 (Notch3 protein, mouse); 0 (Receptor, Notch3)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE
[do] DOI:10.1084/jem.20161715


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[PMID]:28679849
[Au] Autor:Chong M; O'Donnell M; Thijs V; Dans A; López-Jaramillo P; Gómez-Arbeláez D; Mondo C; Czlonkowska A; Skowronska M; Oveisgharan S; Yusuf S; Paré G
[Ad] Endereço:From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven
[Ti] Título:Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases.
[So] Source:Stroke;48(8):2263-2265, 2017 Aug.
[Is] ISSN:1524-4628
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND PURPOSE: Mendelian strokes are rare genetic disorders characterized by early-onset small-vessel stroke. Although extensively studied among families with syndromic features, whether these genes affect risk among sporadic cases is unknown. METHODS: We sequenced 8 genes responsible for Mendelian stroke in a case-control study of sporadic stroke cases (≤70 years). Participants included 1251 primary stroke cases of small-vessel pathology (637 intracerebral hemorrhage and 614 small-vessel ischemic stroke cases) and 1716 controls from the INTERSTROKE study (Study of the Importance of Conventional and Emerging Risk Factors of Stroke in Different Regions and Ethnic Groups of the World). RESULTS: Overall, the prevalence of canonical disease-causing mutations was 0.56% in cases and 0.23% in controls (odds ratio=1.89; 95% confidence interval, 0.54-7.57; =0.33). CADASIL (Cerebral Autosomal Dominant Arteriopathies with Subcortical Infarcts and Leukoencephalopathies) mutations were more frequent among cases (0.48%) than controls (0.23%) but were not significantly associated with stroke risk (odds ratio=2.03; 95% confidence interval, 0.58-8.02; =0.27). Next, we included all rare nonsynonymous mutations to investigate whether other types of mutations may contribute to stroke risk. Overall, 13.5% of cases and 14.2% of controls were carriers of at least one rare nonsynonymous mutation among the 8 Mendelian stroke genes. Mutation carriers were not at elevated risk of stroke (odds ratio=0.93; 95% confidence interval, 0.75-1.16; =0.55). CONCLUSIONS: In the absence of syndromic features and family history of stroke, screening for Mendelian mutations among small-vessel stroke patients is unlikely to have high diagnostic utility.
[Mh] Termos MeSH primário: CADASIL/genética
Hemorragia Cerebral/genética
Predisposição Genética para Doença/genética
Acidente Vascular Cerebral/genética
[Mh] Termos MeSH secundário: Idoso
CADASIL/diagnóstico
Estudos de Casos e Controles
Hemorragia Cerebral/diagnóstico
Feminino
Seres Humanos
Masculino
Microvasos/patologia
Meia-Idade
Acidente Vascular Cerebral/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170707
[St] Status:MEDLINE
[do] DOI:10.1161/STROKEAHA.117.017322


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[PMID]:28364025
[Au] Autor:Wollenweber FA; Baykara E; Zedde M; Gesierich B; Achmüller M; Jouvent E; Viswanathan A; Ropele S; Chabriat H; Schmidt R; Opherk C; Dichgans M; Linn J; Duering M
[Ad] Endereço:From the Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-Universität LMU, Germany (F.A.W., E.B., B.G., M.A., M.D., M.D.); Neurology Unit, Stroke Unit, IRCCS-Arcispedale Santa Maria Nuova, Reggio Emilia, Italy (M.Z.); University Paris Diderot, Sorbonne
[Ti] Título:Cortical Superficial Siderosis in Different Types of Cerebral Small Vessel Disease.
[So] Source:Stroke;48(5):1404-1407, 2017 May.
[Is] ISSN:1524-4628
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND PURPOSE: Cortical superficial siderosis (cSS) has emerged as a clinically relevant imaging feature of cerebral amyloid angiopathy (CAA). However, it remains unknown whether cSS is also present in nonamyloid-associated small vessel disease and whether patients with cSS differ in terms of other small vessel disease imaging features. METHODS: Three hundred sixty-four CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) patients, 372 population-based controls, and 100 CAA patients with cSS (fulfilling the modified Boston criteria for possible/probable CAA) were included. cSS and cerebral microbleeds were visually rated on T2*-weighted magnetic resonance imaging. White matter hyperintensities were segmented on fluid-attenauted inversion recovery images, and their spatial distribution was compared between groups using colocalization analysis. Cerebral microbleeds location was determined in an observer-independent way using an atlas in standard space. RESULTS: cSS was absent in CADASIL and present in only 2 population-based controls (0.5%). Cerebral microbleeds were present in 64% of CAA patients with cSS, 34% of patients with CADASIL, and 12% of population-based controls. Among patients with cerebral microbleeds, lobar location was found in 95% of CAA patients with cSS, 48% of CADASIL patients, and 69% of population-based controls. The spatial distribution of white matter hyperintensities was comparable between CAA with cSS and CADASIL as indicated by high colocalization coefficients. CONCLUSIONS: cSS was absent in CADASIL, whereas other small vessel disease imaging features were similar to CAA patients with cSS. Our findings suggest that cSS in combination with other small vessel disease imaging markers is highly indicative of CAA.
[Mh] Termos MeSH primário: Angiopatia Amiloide Cerebral/diagnóstico por imagem
Córtex Cerebral/diagnóstico por imagem
Hemorragia Cerebral/diagnóstico por imagem
Doenças de Pequenos Vasos Cerebrais/diagnóstico por imagem
Hemossiderose/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
CADASIL/diagnóstico por imagem
CADASIL/epidemiologia
Angiopatia Amiloide Cerebral/epidemiologia
Córtex Cerebral/metabolismo
Hemorragia Cerebral/epidemiologia
Doenças de Pequenos Vasos Cerebrais/epidemiologia
Comorbidade
Feminino
Hemossiderose/epidemiologia
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170630
[Lr] Data última revisão:
170630
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170402
[St] Status:MEDLINE
[do] DOI:10.1161/STROKEAHA.117.016833


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[PMID]:28348068
[Au] Autor:Lyoubi-Idrissi A; De Guio F; Chabriat H; Jouvent E
[Ad] Endereço:From the Department of Neurology, AP-HP, Lariboisière Hospital, Paris, France (A.L.-I., H.C., E.J.); DHU NeuroVasc Sorbonne Paris Cité, France (A.L.I., F.D.G., H.C., E.J.); UNIACT, NeuroSpin, Gif-sur-Yvette, France (A.L.-I., E.J.); and University Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM
[Ti] Título:Focal Macroscopic Cortical Lesions in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
[So] Source:Stroke;48(5):1408-1411, 2017 May.
[Is] ISSN:1524-4628
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND PURPOSE: Cortical microinfarcts and secondary cortical degeneration have been demonstrated in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a severe monogenic cerebral small vessel disease. The aim of this study was to determine whether focal macroscopic cortical lesions can be detected using a specific in vivo magnetic resonance imaging approach. METHODS: Three-dimensional T1 magnetic resonance imaging scans were obtained in 28 nondemented nondisabled CADASIL patients and 29 age- and sex-matched controls. The cortical mantle of patients and controls were extracted using Brainvisa by an experienced user and then evaluated during a dedicated reading session by a second reader after removing the white matter to stay blind to the clinical status. Thereafter, confirmed focal macroscopic cortical lesions were characterized using all available imaging data, including 7-T magnetic resonance imaging in some patients. RESULTS: Three focal macroscopic cortical lesions were confirmed in 3 of 28 patients (11%) but none in controls. All lesions were observed in the close vicinity of severe signal changes in the underlying white matter. CONCLUSIONS: Focal macroscopic cortical lesions can be detected using specific magnetic resonance imaging approaches in CADASIL patients long before the end stage of the disorder. The underlying mechanisms and precise clinical consequences of these cortical changes still need to be determined.
[Mh] Termos MeSH primário: CADASIL/diagnóstico por imagem
Córtex Cerebral/diagnóstico por imagem
Imagem por Ressonância Magnética/métodos
[Mh] Termos MeSH secundário: Adulto
Idoso
Estudos de Coortes
Feminino
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170630
[Lr] Data última revisão:
170630
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE
[do] DOI:10.1161/STROKEAHA.116.015724


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[PMID]:28341077
[Au] Autor:You J; Liao S; Zhang F; Ma Z; Li G
[Ad] Endereço:Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China. Electronic address: youjs73@163.com.
[Ti] Título:First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL.
[So] Source:J Stroke Cerebrovasc Dis;26(1):e1-e4, 2017 Jan.
[Is] ISSN:1532-8511
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To explore Notch3 mutation sites of Chinese patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: Direct sequencing of all exons in Notch3 gene was performed on 12 unrelated suspected CADASIL cases from mainland China. RESULT: A missense p.Arg587Cys (1759C>T) mutation in exon 11 was identified in 2 patients through genetic analysis. CONCLUSION: Chinese patients with CADASIL of R587C mutation in exon 11 was firstly reported.
[Mh] Termos MeSH primário: CADASIL/genética
Mutação de Sentido Incorreto
Receptor Notch3/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático/genética
Encéfalo/diagnóstico por imagem
CADASIL/diagnóstico por imagem
China
Éxons
Família
Feminino
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NOTCH3 protein, human); 0 (Receptor, Notch3)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170630
[Lr] Data última revisão:
170630
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170326
[St] Status:MEDLINE


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[PMID]:28320141
[Au] Autor:Cheema I; Switzer AR; McCreary CR; Hill MD; Frayne R; Goodyear BG; Smith EE
[Ad] Endereço:Department of Clinical Neurosciences, University of Calgary, Calgary, Canada.
[Ti] Título:Functional magnetic resonance imaging responses in CADASIL.
[So] Source:J Neurol Sci;375:248-254, 2017 Apr 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: The magnitude of the blood oxygen dependent level (BOLD) functional MRI (fMRI) response to visual stimulation is reduced in the small vessel disease cerebral amyloid angiopathy (CAA), reflecting impaired vascular reactivity. We determined whether BOLD responses were reduced in another small vessel disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: BOLD fMRI data were collected using a visual stimulus (contrast-reversing checkerboard) and motor task (finger-tapping). The amplitude of BOLD responses in the visual cortex (visual stimulus) and motor cortex (motor task) were compared between 5 CADASIL, 18 CAA and 18 control subjects, controlling for age and hypertension. RESULTS: BOLD response varied by group for the visual stimulus (p<0.001) but not the motor task (p=0.47). After adjusting for age and hypertension, the estimated mean visual cortex BOLD amplitude response was 3.95% in CADASIL (95% confidence interval, CI 3.15-4.75%), 1.73% in CAA (95% CI 1.19-2.27%), and 2.88% (95% CI 2.39-3.37%) in controls. In CADASIL, the visual BOLD response was greater than in CAA (p<0.001) and controls (p=0.04). CONCLUSIONS: We observed increased and unchanged BOLD amplitude responses in the visual and motor cortices of CADASIL patients, respectively. This suggests that cortical blood flow regulation by neuronal activity may be relatively preserved in CADASIL, in contrast to CAA where occipital vascular reactivity is impaired. Cortical vascular reactivity in CADASIL may be preserved because the disease-related injury is primarily subcortical, whereas increased activation may reflect compensatory mechanisms for subcortical injury.
[Mh] Termos MeSH primário: CADASIL/diagnóstico por imagem
Imagem por Ressonância Magnética
[Mh] Termos MeSH secundário: Adulto
Idoso
Análise de Variância
Eletroencefalografia
Potenciais Evocados Visuais/fisiologia
Feminino
Seres Humanos
Processamento de Imagem Assistida por Computador
Angiografia por Ressonância Magnética
Masculino
Meia-Idade
Córtex Motor/diagnóstico por imagem
Testes Neuropsicológicos
Oxigênio/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
S88TT14065 (Oxygen)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170705
[Lr] Data última revisão:
170705
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE


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[PMID]:28302914
[Au] Autor:Tan R; Traylor M; Rutten-Jacobs L; Markus H
[Ad] Endereço:Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Box 83, R3 Neurosciences, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0QQ, U.K. yyrt2@medschl.cam.ac.uk.
[Ti] Título:New insights into mechanisms of small vessel disease stroke from genetics.
[So] Source:Clin Sci (Lond);131(7):515-531, 2017 Apr 01.
[Is] ISSN:1470-8736
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Cerebral small vessel disease (SVD) is a common cause of lacunar strokes, vascular cognitive impairment (VCI) and vascular dementia. SVD is thought to result in reduced cerebral blood flow, impaired cerebral autoregulation and increased blood-brain barrier (BBB) permeability. However, the molecular mechanisms underlying SVD are incompletely understood. Recent studies in monogenic forms of SVD, such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and 'sporadic' SVD have shed light on possible disease mechanisms in SVD. Proteomic and biochemical studies in post-mortem monogenic SVD patients, as well as in animal models of monogenic disease have suggested that disease pathways are shared between different types of monogenic disease, often involving the impairment of extracellular matrix (ECM) function. In addition, genetic studies in 'sporadic' SVD have also shown that the disease is highly heritable, particularly among young-onset stroke patients, and that common variants in monogenic disease genes may contribute to disease processes in some SVD subtypes. Genetic studies in sporadic lacunar stroke patients have also suggested distinct genetic mechanisms between subtypes of SVD. Genome-wide association studies (GWAS) have also shed light on other potential disease mechanisms that may be shared with other diseases involving the white matter, or with pathways implicated in monogenic disease. This review brings together recent data from studies in monogenic SVD and genetic studies in 'sporadic' SVD. It aims to show how these provide new insights into the pathogenesis of SVD, and highlights the possible convergence of disease mechanisms in monogenic and sporadic SVD.
[Mh] Termos MeSH primário: Doenças de Pequenos Vasos Cerebrais/genética
[Mh] Termos MeSH secundário: Alopecia/genética
Alopecia/metabolismo
Barreira Hematoencefálica/fisiologia
CADASIL/genética
CADASIL/metabolismo
Infarto Cerebral/genética
Infarto Cerebral/metabolismo
Doenças de Pequenos Vasos Cerebrais/metabolismo
Colágeno/genética
Matriz Extracelular/fisiologia
Proteínas da Matriz Extracelular/fisiologia
Predisposição Genética para Doença
Seres Humanos
Leucoencefalopatias/genética
Leucoencefalopatias/metabolismo
Doenças da Coluna Vertebral/genética
Doenças da Coluna Vertebral/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Extracellular Matrix Proteins); 9007-34-5 (Collagen)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170703
[Lr] Data última revisão:
170703
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170318
[St] Status:MEDLINE
[do] DOI:10.1042/CS20160825



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