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Hugues Chabriat - One of the best experts on this subject based on the ideXlab platform.
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Focal Macroscopic Cortical Lesions in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Stroke, 2017Co-Authors: Aicha Lyoubi-idrissi, François De Guio, Hugues Chabriat, Eric JouventAbstract: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.
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Predictors and Clinical Impact of Incident Lacunes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Stroke, 2016Co-Authors: Yifeng Ling, François De Guio, Marco Duering, Eric Jouvent, Martin Dichgans, Dominique Hervé, Ophélia Godin, Hugues ChabriatAbstract:Previous studies in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy showed that accumulation of lacunes strongly relate to clinical severity. However, the potential predictors of incident lacunes and their clinical consequences over a short time frame have not been investigated. This study aimed to determine the predictors and clinical impact of such lesions in a large cohort of patients. Two hundred and six NOTCH3 mutation carriers (mean age, 49.5±10.6 years) were followed up over 3 years. Incident lacunes were identified using difference imaging from 3-dimensional T1 images. Clinical events and change in different clinical scores such as the Mattis Dementia Rating Scale, Modified Rankin Scale, Barthel index, and time to complete part A and part B of Trail Making Test were recorded. Associations were analyzed with multivariable logistic regression analysis and ANCOVA. Over a mean period of 3.4±0.7 years, incident lacunes occurred in 51 of 206 patients. Both the number of lacunes (P<0.0001) and systolic blood pressure at baseline (P<0.01) were independent predictors of incident lacunes during follow-up. The results were still significant after excluding patients with systolic blood pressure >140 mm Hg. Incident lacunes were also associated with incident stroke and with change in time to complete Trail Making Test part B, initiation/perseveration subscale of the Mattis Dementia Rating Scale and Barthel Index over the study period. Systolic blood pressure and the number of prevalent lacunes are independent predictors of incident lacunes in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy. These lesions mainly impact executive performances and functional independence over 3 years. © 2016 American Heart Association, Inc.
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Predictors of Clinical Worsening in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prospective Cohort Study
Stroke, 2015Co-Authors: Hugues Chabriat, Marco Duering, Eric Jouvent, Dominique Hervé, Ophélia Godin, Christian Opherk, Nassira Alili, Sonia Reyes, Aude Jabouley, Nikola ZierenAbstract:Background and Purpose— Predictors of clinical worsening in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy remain unknown. This study aims to identify demographic, clinical, and magnetic resonance imaging predictors of incident strokes, incident dementia, clinical deterioration, and death in patients with this genetically proven disease. Methods— Two hundred ninety subjects (mean age, 50.6±11.4 years) were assessed at baseline and followed up for 36 months. Incident clinical events were recorded, and clinical scores included the Mini Mental State Examination, Mattis Dementia Rating Scale, modified Rankin Scale, and Barthel index. The number of lacunes and microbleeds, the volume of white-matter hyperintensities, and brain parenchymal fraction were assessed on baseline magnetic resonance imaging. Data were analyzed by ANCOVA, multivariable logistic regression, and Cox proportional hazard models. Results— Incident stroke occurred in 55 of 278 patients (19.8%). Moderate or severe disability developed in 19 of 210 (9%) nondisabled individuals, incident dementia in 49 of 231 (20%) nondemented subjects, and 4.8% of patients died. Active smoking, the number of lacunes, and brain parenchymal fraction independently predicted incident stroke during follow-up. Gait disturbance, dementia, and brain parenchymal fraction predicted progression toward moderate or severe disability. Active smoking, disability, and brain parenchymal fraction predicted incident dementia. Age was the only significant predictor of death. Conclusions— Clinical assessment and brain magnetic resonance imaging aid in predicting incident clinical events and clinical deterioration in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy. There is a bidirectional relationship between dementia and moderate or severe disability in predicting each other’s onset. Active smoking is a modifiable risk factor associated with clinical progression in Notch3 mutation carriers.
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White Matter Edema at the Early Stage of Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Stroke, 2014Co-Authors: François De Guio, J. F. Mangin, Marco Duering, Stefan Ropele, Hugues Chabriat, Eric JouventAbstract:Background and Purpose—Recently, in a mouse model of Cerebral Autosomal-Dominant Arteriopathy with subcortical infarcts and leukoencephalopathy, a monogenic Cerebral small vessel disease, intramyelinic edema was detected in the white matter (WM) early during the course of the disease. We hypothesized that if this mechanism holds true in patients, it would translate in larger WM volume. We aimed to measure WM volume in patients with Cerebral Autosomal-Dominant Arteriopathy with subcortical infarcts and leukoencephalopathy in comparison with age- and sex-matched controls, along with the ratio of cortical surface area to the volume of brain hemispheres as an indirect measure that should be reduced in patients. Methods—Twenty patients at the early stage of the disease (Mini Mental State Examination >24 and modified Rankin scale ≤1) and 27 age- and sex-matched controls had high-quality 3-Tesla 3DT1 MRI acquisitions. Volumes of brain hemispheres and of WM were determined. The ratio of cortical surface area to t...
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Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy
Handbook of clinical neurology, 2008Co-Authors: Hugues Chabriat, Marie-germaine BousserAbstract:Publisher Summary This chapter describes Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) as an inherited small artery disease of mid-adulthood caused by mutations of the NOTCH3 gene on chromosome 19. The exact frequency of CADASIL remains unknown. The disease is not limited to Caucasian families although the disorder was initially recognized in European pedigrees. It has now been diagnosed in Asian, African, and American as well as in Australian and European families. The chapter emphasizes that for patients with a first lacunar stroke before the age of 65 and with leukoaraiosis, the prevalence was estimated at 2%. The screening of mutations in exons 3 and 4 was negative in limited samples of subjects with stroke or dementia in the absence of selective criteria. The acronym CADASIL was proposed to designate this disease and highlight its main characteristics when the gene responsible for the disorder was located on chromosome 19. The chapter concludes that no treatment has been evaluated for CADASIL. Because of the variability in the natural history of the disease, a large number of subjects would have to be included in a randomized trial for a preventive treatment. Some drugs are useful in relieving specific symptoms during the course of CADASIL.
M. T. Dotti - One of the best experts on this subject based on the ideXlab platform.
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
BMC medicine, 2017Co-Authors: Ilaria Di Donato, N. De Stefano, M. T. Dotti, Marco Duering, Eric Jouvent, Martin Dichgans, Silvia Bianchi, Amos D. Korczyn, Saskia A. J. Lesnik-oberstein, Alessandro MalandriniAbstract:Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best known monogenic small vessel disease. Here, we review the clinical, neuroimaging, neuropathological, genetic, and therapeutic aspects based on the most relevant articles published between 1994 and 2016 and on the personal experience of the authors, all directly involved in CADASIL research and care. We conclude with some suggestions that may help in the clinical practice and management of these patients.
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Bone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Stroke, 2009Co-Authors: Francesca Pescini, Enza Zicari, M. T. Dotti, Silvia Bianchi, Francesca Cesari, Betti Giusti, Cristina Sarti, Antonio Federico, Maurizio Balestrino, Adriano EnricoAbstract:Background and Purpose—Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease due to Cerebral microangiopathy presenting with variable pictures, including stroke, progressive cognitive impairment, and disability. Mechanisms leading from vessel structural changes to parenchymal damage and eventually to clinical expression are not fully understood. Among pathogenic processes, endothelial dysfunction has been hypothesized. Endothelial progenitor cells and circulating progenitor cells (CPCs) derived from bone marrow participate in endothelium structure and function maintenance and contribute to ischemic area revascularization. No data are available about these cells in CADASIL. Our objective in this study was to evaluate endothelial progenitor cells and CPCs role in CADASIL. Methods—Twenty-nine patients with CADASIL and 29 sex- and age-matched control subjects were enrolled. Cells were measured in peripheral blood using flow cytometry. Endo...
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Increased QT variability in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy.
European journal of neurology, 2008Co-Authors: Gianfranco Piccirillo, Damiano Magri, Marilena Mitra, Alessandra Rufa, Enza Zicari, M. L. Stromillo, N. De Stefano, M. T. DottiAbstract:Background and purpose: Although sudden death (SD) accounts for numerous cases of premature mortality in patients with Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the risk factors responsible for this dramatic event remain unclear. We sought possible differences in the QT variability index (QTVI) – a well-known index of temporal dispersion in myocardial repolarization strongly associated with the risk of SD – between a group of patients with CADASIL and healthy controls. Methods: A total of 13 patients with CADASIL and 13 healthy volunteers underwent a 5-min electrocardiogram recording to calculate the QTVI. All the patients also underwent a clinical assessment, including functional status by Rankin score, and a magnetic resonance imaging (MRI) brain scan for quantitative analysis of T2-weighted (T2-W) and T1-weighted (T1-W) lesion volume (LV). Results: Short-term QT-interval analysis showed significantly higher QTVI (P = 0.029) in patients than in controls. In patients, notwithstanding the limitations of the small sample size, QTVI also well correlated with T1-W LV (r = 0.747, P = 0.003) and T2-W LV (r = 0.731, P = 0.005). Conclusion: Because patients with CADASIL have increased temporal cardiac repolarization variability as assessed by QTVI, this mechanism could underlie these patients’ risk of SD. Whether this easily assessed, non-invasive marker could be used to stratify the risk of malignant ventricular arrhythmias in patients with CADASIL and, possibly, to guide their therapeutic management warrants confirmation from larger prospective studies.
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Increased QT variability in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy.
European journal of neurology, 2008Co-Authors: Gianfranco Piccirillo, Damiano Magri, Marilena Mitra, Alessandra Rufa, Enza Zicari, M. L. Stromillo, N. De Stefano, M. T. DottiAbstract:Although sudden death (SD) accounts for numerous cases of premature mortality in patients with Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the risk factors responsible for this dramatic event remain unclear. We sought possible differences in the QT variability index (QTVI) -- a well-known index of temporal dispersion in myocardial repolarization strongly associated with the risk of SD -- between a group of patients with CADASIL and healthy controls. A total of 13 patients with CADASIL and 13 healthy volunteers underwent a 5-min electrocardiogram recording to calculate the QTVI. All the patients also underwent a clinical assessment, including functional status by Rankin score, and a magnetic resonance imaging (MRI) brain scan for quantitative analysis of T2-weighted (T2-W) and T1-weighted (T1-W) lesion volume (LV). Short-term QT-interval analysis showed significantly higher QTVI (P = 0.029) in patients than in controls. In patients, notwithstanding the limitations of the small sample size, QTVI also well correlated with T1-W LV (r = 0.747, P = 0.003) and T2-W LV (r = 0.731, P = 0.005). Because patients with CADASIL have increased temporal cardiac repolarization variability as assessed by QTVI, this mechanism could underlie these patients' risk of SD. Whether this easily assessed, non-invasive marker could be used to stratify the risk of malignant ventricular arrhythmias in patients with CADASIL and, possibly, to guide their therapeutic management warrants confirmation from larger prospective studies.
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Clinical and experimental hypertension (New York N.Y. : 1993), 2006Co-Authors: D. Guidetti, B. Casali, Rosalucia Mazzei, M. T. DottiAbstract:Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by migrane, recurrent stroke, subcortical dementia, and pseudobulbar palsy. It begins with migraine with aura in -33% of patients. CADASIL is commonly overlooked or misdiagnosed owing to its recent identification. The pathological hallmark of angiopathy is the presence of multiple, small, deep Cerebral infarcts, leucoencephalopathy, and nonatherorosclerotic, nonamyloid angiopathy involving mainly small, deep perforating Cerebral arteries. Changes also are present in vascular smooth muscle cells and consist in the presence of granular osmiophilic material (GOM). The defective gene in CADASIL is Notch 3, which encodes a large transmembrane receptor. Magnetic resonance imaging shows high intensity signal lesions, often confluent, and areas of cystic degeneration of subcortical white matter and basal ganglia. Diagnostic strategies in CADASIL are matter of discussions because the electron microscopic demonstration of GOM was reported in 100% of symptomatic patients of French authors, but only in 45% of a British study. GOMs are not present in presymptomatic patients.
Eric Jouvent - One of the best experts on this subject based on the ideXlab platform.
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Focal Macroscopic Cortical Lesions in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Stroke, 2017Co-Authors: Aicha Lyoubi-idrissi, François De Guio, Hugues Chabriat, Eric JouventAbstract: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.
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
BMC medicine, 2017Co-Authors: Ilaria Di Donato, N. De Stefano, M. T. Dotti, Marco Duering, Eric Jouvent, Martin Dichgans, Silvia Bianchi, Amos D. Korczyn, Saskia A. J. Lesnik-oberstein, Alessandro MalandriniAbstract:Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best known monogenic small vessel disease. Here, we review the clinical, neuroimaging, neuropathological, genetic, and therapeutic aspects based on the most relevant articles published between 1994 and 2016 and on the personal experience of the authors, all directly involved in CADASIL research and care. We conclude with some suggestions that may help in the clinical practice and management of these patients.
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Predictors and Clinical Impact of Incident Lacunes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Stroke, 2016Co-Authors: Yifeng Ling, François De Guio, Marco Duering, Eric Jouvent, Martin Dichgans, Dominique Hervé, Ophélia Godin, Hugues ChabriatAbstract:Previous studies in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy showed that accumulation of lacunes strongly relate to clinical severity. However, the potential predictors of incident lacunes and their clinical consequences over a short time frame have not been investigated. This study aimed to determine the predictors and clinical impact of such lesions in a large cohort of patients. Two hundred and six NOTCH3 mutation carriers (mean age, 49.5±10.6 years) were followed up over 3 years. Incident lacunes were identified using difference imaging from 3-dimensional T1 images. Clinical events and change in different clinical scores such as the Mattis Dementia Rating Scale, Modified Rankin Scale, Barthel index, and time to complete part A and part B of Trail Making Test were recorded. Associations were analyzed with multivariable logistic regression analysis and ANCOVA. Over a mean period of 3.4±0.7 years, incident lacunes occurred in 51 of 206 patients. Both the number of lacunes (P<0.0001) and systolic blood pressure at baseline (P<0.01) were independent predictors of incident lacunes during follow-up. The results were still significant after excluding patients with systolic blood pressure >140 mm Hg. Incident lacunes were also associated with incident stroke and with change in time to complete Trail Making Test part B, initiation/perseveration subscale of the Mattis Dementia Rating Scale and Barthel Index over the study period. Systolic blood pressure and the number of prevalent lacunes are independent predictors of incident lacunes in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy. These lesions mainly impact executive performances and functional independence over 3 years. © 2016 American Heart Association, Inc.
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Predictors of Clinical Worsening in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prospective Cohort Study
Stroke, 2015Co-Authors: Hugues Chabriat, Marco Duering, Eric Jouvent, Dominique Hervé, Ophélia Godin, Christian Opherk, Nassira Alili, Sonia Reyes, Aude Jabouley, Nikola ZierenAbstract:Background and Purpose— Predictors of clinical worsening in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy remain unknown. This study aims to identify demographic, clinical, and magnetic resonance imaging predictors of incident strokes, incident dementia, clinical deterioration, and death in patients with this genetically proven disease. Methods— Two hundred ninety subjects (mean age, 50.6±11.4 years) were assessed at baseline and followed up for 36 months. Incident clinical events were recorded, and clinical scores included the Mini Mental State Examination, Mattis Dementia Rating Scale, modified Rankin Scale, and Barthel index. The number of lacunes and microbleeds, the volume of white-matter hyperintensities, and brain parenchymal fraction were assessed on baseline magnetic resonance imaging. Data were analyzed by ANCOVA, multivariable logistic regression, and Cox proportional hazard models. Results— Incident stroke occurred in 55 of 278 patients (19.8%). Moderate or severe disability developed in 19 of 210 (9%) nondisabled individuals, incident dementia in 49 of 231 (20%) nondemented subjects, and 4.8% of patients died. Active smoking, the number of lacunes, and brain parenchymal fraction independently predicted incident stroke during follow-up. Gait disturbance, dementia, and brain parenchymal fraction predicted progression toward moderate or severe disability. Active smoking, disability, and brain parenchymal fraction predicted incident dementia. Age was the only significant predictor of death. Conclusions— Clinical assessment and brain magnetic resonance imaging aid in predicting incident clinical events and clinical deterioration in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy. There is a bidirectional relationship between dementia and moderate or severe disability in predicting each other’s onset. Active smoking is a modifiable risk factor associated with clinical progression in Notch3 mutation carriers.
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White Matter Edema at the Early Stage of Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Stroke, 2014Co-Authors: François De Guio, J. F. Mangin, Marco Duering, Stefan Ropele, Hugues Chabriat, Eric JouventAbstract:Background and Purpose—Recently, in a mouse model of Cerebral Autosomal-Dominant Arteriopathy with subcortical infarcts and leukoencephalopathy, a monogenic Cerebral small vessel disease, intramyelinic edema was detected in the white matter (WM) early during the course of the disease. We hypothesized that if this mechanism holds true in patients, it would translate in larger WM volume. We aimed to measure WM volume in patients with Cerebral Autosomal-Dominant Arteriopathy with subcortical infarcts and leukoencephalopathy in comparison with age- and sex-matched controls, along with the ratio of cortical surface area to the volume of brain hemispheres as an indirect measure that should be reduced in patients. Methods—Twenty patients at the early stage of the disease (Mini Mental State Examination >24 and modified Rankin scale ≤1) and 27 age- and sex-matched controls had high-quality 3-Tesla 3DT1 MRI acquisitions. Volumes of brain hemispheres and of WM were determined. The ratio of cortical surface area to t...
Francesca Pescini - One of the best experts on this subject based on the ideXlab platform.
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Functional Magnetic Resonance Imaging of Inhibitory Control Reveals Decreased Blood Oxygen Level Dependent Effect in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Stroke, 2018Co-Authors: Gioele Gavazzi, Stefano Orsolini, Emilia Salvadori, Andrea Bianchi, Arianna Rossi, Ida Donnini, Valentina Rinnoci, Francesca Pescini, Stefano Diciotti, Maria Pia ViggianoAbstract:Background and Purpose— Small-vessel damage in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with impaired vascular constriction...
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Vitamin D levels in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017Co-Authors: Maria Alessandra Carluccio, M. L. Stromillo, Francesca Pescini, Ilaria Di Donato, Marco Battaglini, Silvia Bianchi, Raffaella Valenti, Serena Nannucci, Beatrice Franci, N. De StefanoAbstract:Besides its well known function on bone metabolism, vitamin D role in cerebrovascular pathologies including Cerebral small vessel disease has been confirmed by recent meta-analysis. In this study, we measured vitamin D levels in 56 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) patients (mean age 49.9) with no or minimal disability (modified Ranking Score, mRS ≤2) and in 56 age, sex and seasonality matched healthy controls. History of ischemic events was recorded and cognitive functions were assessed using the Mini-Mental State Examination. White matter hyperintensities on brain T2-weighted magnetic resonance images were classified according to a modified Fazekas scale. Comparison of vitamin D levels between patients and controls showed significant lower values (p
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Vitamin D levels in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
'Springer Science and Business Media LLC', 2017Co-Authors: Maria Alessandra Carluccio, M. L. Stromillo, Francesca Pescini, Ilaria Di Donato, Marco Battaglini, Silvia Bianchi, Raffaella Valenti, Serena Nannucci, Beatrice Franci, N. De StefanoAbstract:Besides its well known function on bone metabolism, vitamin D role in cerebrovascular pathologies including Cerebral small vessel disease has been confirmed by recent meta-analysis. In this study, we measured vitamin D levels in 56 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) patients (mean age 49.9) with no or minimal disability (modified Ranking Score, mRS 642) and in 56 age, sex and seasonality matched healthy controls. History of ischemic events was recorded and cognitive functions were assessed using the Mini-Mental State Examination. White matter hyperintensities on brain T2-weighted magnetic resonance images were classified according to a modified Fazekas scale. Comparison of vitamin D levels between patients and controls showed significant lower values (p < 0.05) in no-to-mild CADASIL patients and a higher number of subjects with severe deficiency [25(OH)D
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Letter by Pescini et al Regarding Article, “Peripheral Artery Disease as a Manifestation of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) and Practical Implications”
Circulation, 2013Co-Authors: Francesca Pescini, Anna Poggesi, Leonardo PantoniAbstract:We read with interest the case report by Briceno et al,1 describing a 48-year-old man who was diagnosed with Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) based on a skin biopsy after the disease was suspected because of migraine, dementia, a positive family history for cognitive decline, and chronic ischemic changes on brain MRI. Genetic testing was not reported. The patient developed dry gangrene of the right …
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Response to letter regarding article, “The Cerebral Autosomal-Dominant Arteriopathy with subcortical infarcts and leukoencephalopathy scale. A screening tool to select patients for NOTCH3 gene analysis”.
Stroke, 2013Co-Authors: Francesca Pescini, Serena Nannucci, Leonardo PantoniAbstract:Response: The Cerebral Autosomal-Dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) scale, recently described in this journal,1 is a screening tool predictive of the genetic diagnosis of CADASIL. The scale was developed to help clinicians select patients to be subjected to NOTCH3 gene analysis with a high probability to be affected by CADASIL. We found that this scale is accurate with optimal sensitivity and specificity values (96.7% and 74.2%, respectively); however, our results need to be …
N. De Stefano - One of the best experts on this subject based on the ideXlab platform.
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Vitamin D levels in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017Co-Authors: Maria Alessandra Carluccio, M. L. Stromillo, Francesca Pescini, Ilaria Di Donato, Marco Battaglini, Silvia Bianchi, Raffaella Valenti, Serena Nannucci, Beatrice Franci, N. De StefanoAbstract:Besides its well known function on bone metabolism, vitamin D role in cerebrovascular pathologies including Cerebral small vessel disease has been confirmed by recent meta-analysis. In this study, we measured vitamin D levels in 56 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) patients (mean age 49.9) with no or minimal disability (modified Ranking Score, mRS ≤2) and in 56 age, sex and seasonality matched healthy controls. History of ischemic events was recorded and cognitive functions were assessed using the Mini-Mental State Examination. White matter hyperintensities on brain T2-weighted magnetic resonance images were classified according to a modified Fazekas scale. Comparison of vitamin D levels between patients and controls showed significant lower values (p
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
BMC medicine, 2017Co-Authors: Ilaria Di Donato, N. De Stefano, M. T. Dotti, Marco Duering, Eric Jouvent, Martin Dichgans, Silvia Bianchi, Amos D. Korczyn, Saskia A. J. Lesnik-oberstein, Alessandro MalandriniAbstract:Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best known monogenic small vessel disease. Here, we review the clinical, neuroimaging, neuropathological, genetic, and therapeutic aspects based on the most relevant articles published between 1994 and 2016 and on the personal experience of the authors, all directly involved in CADASIL research and care. We conclude with some suggestions that may help in the clinical practice and management of these patients.
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Vitamin D levels in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
'Springer Science and Business Media LLC', 2017Co-Authors: Maria Alessandra Carluccio, M. L. Stromillo, Francesca Pescini, Ilaria Di Donato, Marco Battaglini, Silvia Bianchi, Raffaella Valenti, Serena Nannucci, Beatrice Franci, N. De StefanoAbstract:Besides its well known function on bone metabolism, vitamin D role in cerebrovascular pathologies including Cerebral small vessel disease has been confirmed by recent meta-analysis. In this study, we measured vitamin D levels in 56 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) patients (mean age 49.9) with no or minimal disability (modified Ranking Score, mRS 642) and in 56 age, sex and seasonality matched healthy controls. History of ischemic events was recorded and cognitive functions were assessed using the Mini-Mental State Examination. White matter hyperintensities on brain T2-weighted magnetic resonance images were classified according to a modified Fazekas scale. Comparison of vitamin D levels between patients and controls showed significant lower values (p < 0.05) in no-to-mild CADASIL patients and a higher number of subjects with severe deficiency [25(OH)D
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Increased QT variability in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy.
European journal of neurology, 2008Co-Authors: Gianfranco Piccirillo, Damiano Magri, Marilena Mitra, Alessandra Rufa, Enza Zicari, M. L. Stromillo, N. De Stefano, M. T. DottiAbstract:Background and purpose: Although sudden death (SD) accounts for numerous cases of premature mortality in patients with Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the risk factors responsible for this dramatic event remain unclear. We sought possible differences in the QT variability index (QTVI) – a well-known index of temporal dispersion in myocardial repolarization strongly associated with the risk of SD – between a group of patients with CADASIL and healthy controls. Methods: A total of 13 patients with CADASIL and 13 healthy volunteers underwent a 5-min electrocardiogram recording to calculate the QTVI. All the patients also underwent a clinical assessment, including functional status by Rankin score, and a magnetic resonance imaging (MRI) brain scan for quantitative analysis of T2-weighted (T2-W) and T1-weighted (T1-W) lesion volume (LV). Results: Short-term QT-interval analysis showed significantly higher QTVI (P = 0.029) in patients than in controls. In patients, notwithstanding the limitations of the small sample size, QTVI also well correlated with T1-W LV (r = 0.747, P = 0.003) and T2-W LV (r = 0.731, P = 0.005). Conclusion: Because patients with CADASIL have increased temporal cardiac repolarization variability as assessed by QTVI, this mechanism could underlie these patients’ risk of SD. Whether this easily assessed, non-invasive marker could be used to stratify the risk of malignant ventricular arrhythmias in patients with CADASIL and, possibly, to guide their therapeutic management warrants confirmation from larger prospective studies.
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Increased QT variability in Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy.
European journal of neurology, 2008Co-Authors: Gianfranco Piccirillo, Damiano Magri, Marilena Mitra, Alessandra Rufa, Enza Zicari, M. L. Stromillo, N. De Stefano, M. T. DottiAbstract:Although sudden death (SD) accounts for numerous cases of premature mortality in patients with Cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the risk factors responsible for this dramatic event remain unclear. We sought possible differences in the QT variability index (QTVI) -- a well-known index of temporal dispersion in myocardial repolarization strongly associated with the risk of SD -- between a group of patients with CADASIL and healthy controls. A total of 13 patients with CADASIL and 13 healthy volunteers underwent a 5-min electrocardiogram recording to calculate the QTVI. All the patients also underwent a clinical assessment, including functional status by Rankin score, and a magnetic resonance imaging (MRI) brain scan for quantitative analysis of T2-weighted (T2-W) and T1-weighted (T1-W) lesion volume (LV). Short-term QT-interval analysis showed significantly higher QTVI (P = 0.029) in patients than in controls. In patients, notwithstanding the limitations of the small sample size, QTVI also well correlated with T1-W LV (r = 0.747, P = 0.003) and T2-W LV (r = 0.731, P = 0.005). Because patients with CADASIL have increased temporal cardiac repolarization variability as assessed by QTVI, this mechanism could underlie these patients' risk of SD. Whether this easily assessed, non-invasive marker could be used to stratify the risk of malignant ventricular arrhythmias in patients with CADASIL and, possibly, to guide their therapeutic management warrants confirmation from larger prospective studies.