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[PMID]: 29500468
[Au] Autor:Yeung WTE; Mizuta I; Watanabe-Hosomi A; Yokote A; Koizumi T; Mukai M; Kinoshita M; Ohara T; Mizuno T
[Ad] Address:Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
[Ti] Title:RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis.
[So] Source:J Hum Genet;, 2018 Mar 02.
[Is] ISSN:1435-232X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by NOTCH3, primarily affects small cerebral arteries; however, stenosis of major intracranial arteries has occasionally been reported. Recent studies identified a close association between the c.14576G>A (p.R4859K, rs112735431) variant of the ring finger protein 213 (RNF213) gene and sporadic intracranial arterial stenosis (ICAS). To determine whether RNF213 is associated with ICAS in CADASIL, we genotyped rs112735431 for 124 patients with CADASIL. The c.14576G>A carrier rate in CADASIL patients with ICAS (4/17; 23.5%) was significantly higher compared with those without ICAS (2/107; 1.9%) (P = 0.0032). Among patients with ICAS, frequency of territorial infarction was significantly higher in c.14576G>A carriers (75.0%) than in non-carriers (20.0%) (P = 0.0410). In addition, rate of ≥50% stenosis or occlusion tended to be higher in c.14576G>A carriers (4/4; 100%) than in non-carriers (6/13; 46.2%) (P = 0.1029). We conclude that RNF213 is a gene associated with susceptibility to ICAS in CADASIL patients. MRA follow-up and close observation are necessary for CADASIL patients with the RNF213 variant, as they may be predisposed to ICAS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher
[do] DOI:10.1038/s10038-018-0428-9

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[PMID]: 29380913
[Au] Autor:Vinters HV; Zarow C; Borys E; Whitman JD; Tung S; Ellis WG; Zheng L; Chui HC
[Ad] Address:Departments of Pathology & Laboratory Medicine (Neuropathology) and Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
[Ti] Title:Review: Vascular dementia: clinicopathologic and genetic considerations.
[So] Source:Neuropathol Appl Neurobiol;, 2018 Jan 30.
[Is] ISSN:1365-2990
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The incidence and severity of cerebrovascular disease (CVD) increase with advancing age, as does the risk of developing Alzheimer's disease (AD). Not surprisingly, heterogeneous forms of CVD may coexist with AD changes in the 'ageing brain'. These include angiopathies (affecting both large and small arteries) that result from 'classical' risk factors (hypertension, smoking and diabetes) and others (cerebral amyloid angiopathy) that are biochemically closely linked to AD. The morphologic consequences of these various vascular diseases are infarcts and/or haemorrhages of varying sizes within the brain, which lead to neurocognitive decline that may mimic AD - though the vascular abnormalities are usually detectable by neuroimaging. More subtle effects of CVD may include neuroinflammation and biochemical 'lesions' that have no reliable morphologic correlate and thus escape the attention of even an experienced Neuropathologist. The pathogenesis of hippocampal injury resembling ischaemic change - commonly seen in the brains of geriatric subjects - remains controversial. In recent years, genetically determined forms of microangiopathy (e.g. CADASIL, CARASIL, Trex1-related microangiopathies, CARASAL, familial forms of cerebral amyloid angiopathy or CAA) have provided interesting cellular and molecular clues to the pathogenesis of sporadic microvascular disease such as arteriolosclerosis and AD-related CAA.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.1111/nan.12472

  3 / 1171 MEDLINE  
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[PMID]: 29406155
[Au] Autor:Duering M; Finsterwalder S; Baykara E; Tuladhar AM; Gesierich B; Konieczny MJ; Malik R; Franzmeier N; Ewers M; Jouvent E; Biessels GJ; Schmidt R; de Leeuw FE; Pasternak O; Dichgans M
[Ad] Address:Institute for Stroke and Dementia Research, University Hospital, LMU Munich, Munich, Germany. Electronic address: marco.duering@med.uni-muenchen.de.
[Ti] Title:Free water determines diffusion alterations and clinical status in cerebral small vessel disease.
[So] Source:Alzheimers Dement;, 2018 Feb 16.
[Is] ISSN:1552-5279
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Diffusion tensor imaging detects early tissue alterations in Alzheimer's disease and cerebral small vessel disease (SVD). However, the origin of diffusion alterations in SVD is largely unknown. METHODS: To gain further insight, we applied free water (FW) imaging to patients with genetically defined SVD (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy [CADASIL], n = 57), sporadic SVD (n = 444), and healthy controls (n = 28). We modeled freely diffusing water in the extracellular space (FW) and measures reflecting fiber structure (tissue compartment). We tested associations between these measures and clinical status (processing speed and disability). RESULTS: Diffusion alterations in SVD were mostly driven by increased FW and less by tissue compartment alterations. Among imaging markers, FW showed the strongest association with clinical status (R up to 34%, P < .0001). Findings were consistent across patients with CADASIL and sporadic SVD. DISCUSSION: Diffusion alterations and clinical status in SVD are largely determined by extracellular fluid increase rather than alterations of white matter fiber organization.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:Publisher

  4 / 1171 MEDLINE  
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[PMID]: 28469098
[Au] Autor:Fang XJ; Yu M; Wu Y; Zhang ZH; Wang WW; Wang ZX; Yuan Y
[Ad] Address:Department of Neurology, Peking University First Hospital, Beijing 100034, China.
[Ti] Title: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] Country of publication:China
[La] Language:eng
[Ab] Abstract: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] MeSH terms primary: Leukoencephalopathies/pathology
Magnetic Resonance Imaging/methods
Tomography, Optical Coherence/methods
[Mh] MeSH terms secundary: Adult
Brain/metabolism
CADASIL
Cerebral Infarction/pathology
Female
Humans
Male
Middle Aged
Mutation
Receptor, Notch3/genetics
Retinal Vessels/metabolism
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Receptor, Notch3)
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[Js] Journal subset:IM
[Da] Date of entry for processing:170505
[St] Status:MEDLINE
[do] DOI:10.4103/0366-6999.204935

  5 / 1171 MEDLINE  
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[PMID]: 29478611
[Au] Autor:Wang MM
[Ad] Address:Departments of Neurology and Physiology, University of Michigan and VA Ann Arbor Healthcare System, Ann Arbor, MI, United States. Electronic address: micwang@med.umich.edu.
[Ti] Title:CADASIL.
[So] Source:Handb Clin Neurol;148:733-743, 2018.
[Is] ISSN:0072-9752
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Cerebral small-vessel disease is a prevalent condition that is strongly associated with ischemic stroke and dementia. The most prevalent inherited cause of cerebral small-vessel disease is CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a disorder linked to mutations in NOTCH3. The most common symptoms of CADASIL are small ischemic strokes and/or transient ischemic attacks and cognitive impairment, appearing in middle age, that may progress to frank vascular dementia. However, it is increasingly recognized that individual symptom types, onset, and disease severity span a wide spectrum, even among individuals in the same family. Magnetic resonance imaging in CADASIL reveals severe white-matter hyperintensities, evidence of prior subcortical strokes, and, in some cases, microhemorrhages. Several hundred mutations in NOTCH3 have been described worldwide in CADASIL, and virtually all of these mutations alter the cysteine content of the extracellular NOTCH3 gene product. This molecular genetic signature of CADASIL has led to the hypothesis that structural abnormalities in the vascular smooth-muscle protein NOTCH3 trigger arterial degeneration, vascular protein accumulation, and cerebrovascular failure.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Process

  6 / 1171 MEDLINE  
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[PMID]: 29223997
[Au] Autor:Evans JR; Shan J
[Ad] Address:Department of Neurology, Queens Medical Centre, Nottingham, UK.
[Ti] Title:More than meets the eye in a 'migraine'.
[So] Source:Pract Neurol;18(1):72-76, 2018 Feb.
[Is] ISSN:1474-7766
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180223
[Lr] Last revision date:180223
[St] Status:In-Process
[do] DOI:10.1136/practneurol-2017-001702

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[PMID]: 29460913
[Au] Autor:Sergeev AV
[Ad] Address:Sechenov First Moscow State Medical University, Moscow, Russia.
[Ti] Title:'Maski' migreni: voprosy differentsial'nogo diagnoza ostroi golovnoi boli. [Migraine 'masks': differential diagnosis of acute headache].
[So] Source:Zh Nevrol Psikhiatr Im S S Korsakova;118(1):96-102, 2018.
[Is] ISSN:1997-7298
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:Differential diagnosis of migraine, can be difficult, especially of migraine with aura. On the one hand, some diseases can produce symptoms similar to migraine (cerebral aneurysm before rupture, reversible cerebral vasoconstriction syndrome). On the other hand, migraine with aura and some other disorders are conditions that have common pathophysiological mechanisms (e.g., CADASIL and MELAS syndrome, antiphospholipid syndrome). Thirdly, clinical presentations of migraine are often difficult to distinguish from features of other headache conditions (migraine with aura - transient ischemic attack, migraine with visual aura - occipital epilepsy). The author discusses the differential diagnosis of acute headache, especially thunderclap headache, and main strategies of effective treatment of migraine attacks.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:In-Data-Review
[do] DOI:10.17116/jnevro20181181196-102

  8 / 1171 MEDLINE  
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[PMID]: 29449082
[Au] Autor:Schiess N; Huether K; Szolics M; Agarwal G; El-Hattab AW; Sathe S
[Ad] Address:Department of Neurology, The Johns Hopkins Hospital, Baltimore, MD, United States; Department of Neurology, Tawam Hospital, Al Ain, United Arab Emirates. Electronic address: nschies1@jhmi.edu.
[Ti] Title:Multiple sclerosis or "inflammatory CADASIL?": Case Report and review of the literature.
[So] Source:Clin Neurol Neurosurg;, 2018 Feb 08.
[Is] ISSN:1872-6968
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Multiple sclerosis (MS) and CADASIL presenting together is exceedingly rare. As more cases of "inflammatory" CADASIL emerge, diagnostic challenges for clinicians increase. We report an individual with MS and CADASIL presenting with cognitive decline at age 25. She presented with gadolinium enhancing lesions on MRI and inflammatory cerebrospinal fluid raising the question of whether these patients should be given a diagnosis of "inflammatory CADASIL" or both MS and CADASIL. METHODS: A literature review was conducted on reports of inflammatory CADASIL or MS and CADASIL, clinical presentations including spinal cord lesions and CSF inflammatory markers. RESULTS: Nine cases in the literature of individuals with CADASIL and inflammatory presentations were found with treatment varying from intravenous steroids to MS immunomodulatory therapy. CONCLUSIONS: If individuals with CADASIL present with immune mediated inflammatory components they may benefit from immunomodulatory therapy. This is discussed with a review of the inflammatory CADASIL/MS cases in the literature and report of a case.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[St] Status:Publisher

  9 / 1171 MEDLINE  
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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] Address:NEUROFARBA Department, University of Florence, Florence, Italy.
[Ti] Title: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] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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] MeSH terms primary: CADASIL/complications
Cerebral Hemorrhage/etiology
Cerebral Hemorrhage/pathology
[Mh] MeSH terms secundary: Adult
Aged
CADASIL/diagnostic imaging
CADASIL/drug therapy
Cerebral Hemorrhage/diagnostic imaging
Cohort Studies
Cross-Sectional Studies
Female
Humans
Italy
Magnetic Resonance Imaging
Male
Middle Aged
Neuroimaging
Risk Factors
United Kingdom
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[Js] Journal subset:IM
[Da] Date of entry for processing:180126
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190878

  10 / 1171 MEDLINE  
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[PMID]: 29428736
[Au] Autor:Shi WL; Zhang YB; Wei W; Gao HY; Huang YH
[Ad] Address:Department of Neurology, Beijing Military General Hospital, Beijing, 10070, China; Department of Neurology, Bethune International Peace Hospital, Shijiazhuang, HeBei, 050082, PR China.
[Ti] Title:Whole genome sequencing identifies novel NOTCH3 mutations for leukoaraiosis.
[So] Source:Biochem Biophys Res Commun;, 2018 Feb 08.
[Is] ISSN:1090-2104
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Leukoaraiosis, a subtype of cerebral small vessel disease, is a common condition found on CT or MRI in elderly people. Leukoaraiosis is strongly associated with cognitive impairment, mental abnormality, gait disorders and urinary dysfunction. However, the genetic risk of leukoaraiosis is largely unknown. OBJECTIVE: The goal of this study is to identify the loss-of-function mutations for leukoaraiosis in Chinese. METHODS: We performed whole-genome sequencing on 11 leukoaraiosis patients and further validated the candidate mutations and tags of the candidate genes in 304 individuals including 160 patients and 144 healthy controls using Sequenom MassARRAY platform. RESULTS: We identified 6 loss-of-functions mutations in 4 leukoaraiosis-related genes of MTHFR, FA2H, NOTCH3, and ABCD1. Association tests on tags of these genes show that rs1044055 (Logistic regression P = 0.008, permutation-based P = 0.05, OR = 0.62) in NOTCH3 is significantly associated with leukoaraiosis in Chinese. In addition, NOTCH3 p. G1295R was a novel mutation showed in 5 leukoaraiosis patients, while not found in controls. CONCLUSION: NOTCH3 is a candidate risk gene for leukoaraiosis in Chinese; NOTCH3 p. G1295R and p.C212W in MTHFR potentially contribute to the pathogenesis of leukoaraiosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180211
[Lr] Last revision date:180211
[St] Status:Publisher


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