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https://www.readbyqxmd.com/read/27911290/rare-genetic-variant-in-sorl1-may-increase-penetrance-of-alzheimer-s-disease-in-a-family-with-several-generations-of-apoe-%C3%A9-4-homozygosity
#1
Eva Louwersheimer, Petra E Cohn-Hokke, Yolande A L Pijnenburg, Marjan M Weiss, Erik A Sistermans, Annemieke J Rozemuller, Marc Hulsman, John C van Swieten, Cock M van Duijn, Frederik Barkhof, Teddy Koene, Philip Scheltens, Wiesje M Van der Flier, Henne Holstege
BACKGROUND: The major genetic risk factor for late onset Alzheimer's disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. OBJECTIVE: To identify genetic factors that, next to APOE-ɛ4 homozygosity, contribute to the development of AD. METHODS: We identified a family with nine AD patients spanning four generations, with an inheritance pattern suggestive of autosomal dominant AD, with no variants in PSEN1, PSEN2, or APP...
November 28, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27906525/the-clinical-utility-of-qsm-disease-diagnosis-medical-management-and-surgical-planning
#2
REVIEW
Sarah Eskreis-Winkler, Yan Zhang, Jingwei Zhang, Zhe Liu, Alexey Dimov, Ajay Gupta, Yi Wang
Quantitative susceptibility mapping (QSM) is an MR technique that depicts and quantifies magnetic susceptibility sources. Mapping iron, the dominant susceptibility source in the brain, has many important clinical applications. Herein, we review QSM applications in the diagnosis, medical management, and surgical treatment of disease. To assist in early disease diagnosis, QSM can identify elevated iron levels in the motor cortex of amyotrophic lateral sclerosis patients, in the substantia nigra of Parkinson's disease (PD) patients, in the globus pallidus, putamen, and caudate of Huntington's disease patients, and in the basal ganglia of Wilson's disease patients...
December 1, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/27905358/-do-cerebral-microbleeds-increase-the-risk-of-hemorrhagic-complications-of-thrombolytic-therapy
#3
T A Polyakova, A V Arablinsky, O S Levin
The role of the cerebral microbleeds (CMB) as a potential predictor of hemorrhagic complications of thrombolytic therapy is discussed. CMB are small perivascular hemosiderin deposits in the brain detected by magnetic resonance imaging in gradient echo T2* or SWI sequences. They are associated (along with leukoaraiosis or lacunes) with cerebral microangiopathies. Most often CMB are associated with hypertensive arteriopathy (the main cause of CMB localization) or cerebral amyloid angiopathy (the main cause of cerebral CMB)...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27905355/-cerebral-microbleeds-in-cerebrovascular-and-neurodegenerative-diseases-with-cognitive-impairment
#4
T A Polyakova, O S Levin
AIM: To study a role of cerebral microbleeds (CMB) in the diagnosis of main cerebrovascular and neurodegenerative diseases with cognitive impairment. MATERIAL AND METHODS: CMB were studied in 120 patients with Alzheimer's disease (AD), dementia with Lewy bodies (DLB) and vascular dementia using 1.5T MRI in T2 * gradient echo. An impact of CMB on cognitive functions and the relationship with signs of vascular and neurodegenerative lesions of the brain were studied as well...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27903811/%C3%AE-amyloid-in-csf-biomarker-for-preclinical-cerebral-amyloid-angiopathy
#5
Ellis S van Etten, Marcel M Verbeek, Jeroen van der Grond, Ronald Zielman, Sanneke van Rooden, Erik W van Zwet, Anna M van Opstal, Joost Haan, Steven M Greenberg, Mark A van Buchem, Marieke J H Wermer, Gisela M Terwindt
OBJECTIVE: To investigate CSF biomarkers in presymptomatic and symptomatic mutation carriers with hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D), a model for sporadic cerebral amyloid angiopathy, and to determine the earliest deposited form of β-amyloid (Aβ). METHODS: HCHWA-D mutation carriers and controls were enrolled in the cross-sectional EDAN (Early Diagnosis of Amyloid Angiopathy Network) study. The HCHWA-D group was divided into symptomatic carriers with a previous intracerebral hemorrhage and presymptomatic carriers...
November 30, 2016: Neurology
https://www.readbyqxmd.com/read/27898582/antithrombotic-therapy-in-patients-with-cerebral-microbleeds
#6
Duncan Wilson, David J Werring
PURPOSE OF REVIEW: Cerebral microbleeds (CMBs) are a radiological marker of cerebral small vessel disease corresponding to small haemosiderin foci identified by blood-sensitive MRI. CMBs are common in older community populations, and in individuals with ischaemic stroke or transient ischaemic attack (TIA), and intracerebral haemorrhage (ICH). We summarize how CMBs might contribute to assessing the future risk of ischaemic stroke and ICH to inform antithrombotic (antiplatelet or anticoagulant) decisions...
November 24, 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27893876/imaging-the-acute-formation-of-a-cortical-microbleed-in-cerebral-amyloid-angiopathy
#7
Gregoire Boulouis, Andreas Charidimou, Susanne Van Veluw, Steven M Greenberg
No abstract text is available yet for this article.
November 28, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27889950/retinopathy-a-sign-of-cerebral-small-vessel-disease-in-diabetes
#8
Toshitaka Umemura, Takahiko Kawamura
Cardio-cerebrovascular disease greatly influences the prognosis of diabetic patients. Silent lacunar infarcts, white matter lesions (WMLs), and cerebral microbleeds are magnetic resonance imaging (MRI) markers of cerebral small vessel disease (SVD) and as they are associated with stroke and dementia, prevention of their incidence and progression is important in clinical practice. The findings of previous autopsy and clinical studies suggest that lacunar infarcts are more prevalent in diabetic patients. On the other hand, the findings of studies on an association between diabetes and WMLs have been inconsistent...
November 27, 2016: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/27885484/the-impact-of-cerebral-microbleeds-on-intracerebral-hemorrhage-and-poor-functional-outcome-of-acute-ischemic-stroke-patients-treated-with-intravenous-thrombolysis-a-systematic-review-and-meta-analysis
#9
REVIEW
Shuang Wang, Yan Lv, Xin Zheng, Jing Qiu, Hui-Sheng Chen
It is still controversial whether pre-existing cerebral microbleeds (CMBs) increase the risks of intracranial hemorrhage (ICH) and poor functional outcome (PFO) in acute ischemic stroke (AIS) patients treated with intravenous thrombolysis (IVT). Therefore, we performed a systematic review and meta-analysis to determine the impact of CMBs on ICH and PFO of AIS patients with IVT. We searched PubMed, EMBASE and Web of Science from inception to August 3, 2016, with language restriction in English. We included studies that reported the relationship between CMBs and ICH or PFO after thrombolysis...
November 24, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27881850/relationship-between-asymptomatic-intra-cranial-lesions-and-brachial-ankle-pulse-wave-velocity-in-coronary-artery-disease-patients-without-stroke
#10
Noriaki Tabata, Daisuke Sueta, Takayoshi Yamashita, Daisuke Utsunomiya, Yuichiro Arima, Eiichiro Yamamoto, Kenichi Tsujita, Sunao Kojima, Koichi Kaikita, Seiji Hokimoto
Little is known about the significance of asymptomatic intra-cranial lesions (ICL) identified by brain MRI in coronary artery disease (CAD) patients. Silent cerebral lesions are suggested to be associated with arterial stiffness in healthy subjects. We investigated whether subclinical ICL are associated with arterial stiffness and the prognosis in CAD patients without medical history of cerebrovascular diseases. We recruited CAD patients who required percutaneous coronary intervention (PCI), did not meet exclusion criteria, and agreed with MRI before PCI...
November 24, 2016: Hypertension Research: Official Journal of the Japanese Society of Hypertension
https://www.readbyqxmd.com/read/27876311/circulating-biomarkers-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-patients
#11
Francesca Pescini, Ida Donnini, Francesca Cesari, Serena Nannucci, Raffaella Valenti, Valentina Rinnoci, Anna Poggesi, Anna Maria Gori, Betti Giusti, Angela Rogolino, Alessandra Carluccio, Silvia Bianchi, Maria Teresa Dotti, Antonio Federico, Maurizio Balestrino, Enrico Adriano, Rosanna Abbate, Domenico Inzitari, Leonardo Pantoni
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral microangiopathy presenting with variable features, including migraine, psychiatric disorders, stroke, and cognitive decline and variable disability. On neuroimaging, CADASIL is characterized by leukoencephalopathy, multiple lacunar infarcts, and microbleeds. Previous studies suggest a possible role of endothelial impairment in the pathogenesis of the disease...
November 18, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27867089/clinical-vascular-imaging-in-the-brain-at-7t
#12
Laurens Jl De Cocker, Arjen Lindenholz, Jaco Jm Zwanenburg, Anja G van der Kolk, Maarten Zwartbol, Peter R Luijten, Jeroen Hendrikse
Stroke and related cerebrovascular diseases are a major cause of mortality and disability. Even at standard-field-strengths (1.5T), MRI is by far the most sensitive imaging technique to detect acute brain infarctions and to characterize incidental cerebrovascular lesions, such as white matter hyperintensities, lacunes and microbleeds. Arterial time-of-flight (TOF) MR angiography (MRA) can depict luminal narrowing or occlusion of the major brain feeding arteries, and this without the need for contrast administration...
November 18, 2016: NeuroImage
https://www.readbyqxmd.com/read/27857119/cerebrovascular-disease-lobar-cerebral-microbleeds-signal-early-cognitive-impairment
#13
Yusuke Yakushiji, David J Werring
No abstract text is available yet for this article.
November 18, 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27856004/microbleeds-and-cavernomas-after-radiotherapy-for-paediatric-primary-brain-tumours
#14
João Passos, Hipólito Nzwalo, Mariana Valente, Joana Marques, Ana Azevedo, Eduardo Netto, António Mota, Alexandra Borges, Sofia Nunes, Duarte Salgado
BACKGROUND: With the expected growth and aging of the population of primary central nervous system tumours (PCNST) survivors, attention to the radiation-induced late brain injury is fundamental. Late focal hemosiderin deposition (FHD) lesions, namely microbleeds and cavernomas, are among the presumable late cerebrovascular complications associated with radiotherapy for PCNST. OBJECTIVE: To explore association between PCNST radiotherapy and the occurrence FHD lesions and to address the correlation between the topographic location of these microvascular lesions with the focal radiotherapy location...
November 11, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27853131/rapidly-sequential-and-fatal-hemorrhaging-in-a-case-of-cerebral-amyloid-angiopathy
#15
Zachary B Bulwa, G Carter Ward, Owen Kramer, Birju Rao, Melvin Wichter
BACKGROUND Cerebral amyloid angiopathy (CAA) is an increasingly recognized cause of lobar intracerebral hemorrhage (ICH) and cognitive impairment in the aging population. Magnetic resonance imaging (MRI) of cerebral microbleeds is the most reliable option for clinical diagnosis of suspected CAA. The pathophysiology of microbleeds and ICH in CAA is not well understood, but it is thought to be the result of vessel weakening and rupture secondary to amyloid deposition. Little evidence has been established pertaining to the time course of recurrent CAA-related microbleeds or larger hemorrhages...
November 17, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27836651/magnetic-resonance-imaging-characteristics-of-ischemic-stroke-in-an-afro-caribbean-population-a-1-year-prospective-mri-study-on-534%C3%A2-consecutive-patients
#16
M Mejdoubi, A Signate, S Colombani, A Arrigo, S Olindo
PURPOSES: Few population-based MRI studies on stroke, particularly in African-descent populations, are available. Based on a 1-year Afro-Caribbean population-based study MRI, ischemic stroke characteristics were extensively analyzed. METHODS: All strokes occurring in Martinique (390,371 inhabitants) were prospectively included. Ascertainment was based, whenever possible, on MRI. All patients were categorized as single- (subclassified as cortical, cortical-subcortical, subcortical, lacunar) or multiple-lesion pattern, and vascular (single, multiple or junctional) territory...
November 8, 2016: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/27834748/early-magnetic-resonance-imaging-and-cognitive-markers-of-hereditary-cerebral-amyloid-angiopathy
#17
Sanneke van Rooden, Anna M van Opstal, Gerda Labadie, Gisela M Terwindt, Marieke J H Wermer, Andrew G Webb, Huub A M Middelkoop, Steven M Greenberg, Jeroen van der Grond, Mark A van Buchem
BACKGROUND AND PURPOSE: Early markers for cerebral amyloid angiopathy are largely unknown. We aimed to identify which magnetic resonance imaging (MRI) (performed at 7 and 3T) and cognitive markers are an early sign in (pre) symptomatic subjects with hereditary cerebral hemorrhage with amyloidosis-Dutch type. METHODS: Twenty-seven DNA-proven Dutch-type mutation carriers (15 symptomatic and 12 presymptomatic) (mean age of 45.9 years) and 33 controls (mean age of 45...
December 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27815693/bacterial-endocarditis-and-cerebrovascular-disease
#18
REVIEW
Brian Silver, Réza Behrouz, Scott Silliman
Cerebrovascular complications of endocarditis occur in 25-70% of patients with infective endocarditis. The cornerstone of treatment is early initiation of antibiotic treatment, which significantly reduces the risk of embolization after 1 week of treatment. In general, thrombolysis and anticoagulation of these patients should be avoided, while antiplatelet therapy may be considered in those with other indications. Endovascular treatment of acute septic emboli is uncertain, but a few case reports have demonstrated benefit...
December 2016: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/27806705/neuroimaging-in-vascular-cognitive-impairment-a-state-of-the-art-review
#19
REVIEW
Wolf-Dieter Heiss, Gary A Rosenberg, Alexander Thiel, Rok Berlot, Jacques de Reuck
Imaging is critical in the diagnosis and treatment of dementia, particularly in vascular cognitive impairment, due to the visualization of ischemic and hemorrhagic injury of gray and white matter. Magnetic resonance imaging (MRI) and positron emission tomography (PET) provide structural and functional information. Clinical MRI is both generally available and versatile - T2-weighted images show infarcts, FLAIR shows white matter changes and lacunar infarcts, and susceptibility-weighted images reveal microbleeds...
November 3, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27802236/cerebral-amyloid-angiopathy-related-microbleeds-and-cerebrospinal-fluid-biomarkers-in-alzheimer-s-disease
#20
Moeko Noguchi-Shinohara, Junji Komatsu, Miharu Samuraki, Ichiro Matsunari, Tokuhei Ikeda, Kenji Sakai, Tsuyoshi Hamaguchi, Kenjiro Ono, Hiroyuki Nakamura, Masahito Yamada
BACKGROUND: Alzheimer's disease (AD) commonly accompanies cerebral amyloid angiopathy (CAA). OBJECTIVE: We aimed to reveal associations between CAA-related brain microbleeds and cerebrospinal fluid (CSF) markers in AD patients. METHODS: Patients with probable AD (n = 88) from consecutive patients in our memory clinic were evaluated for patient demographics, vascular risk factors, neuropsychological tests, apolipoprotein E phenotype, MRI including T2*-weighted image and fluid attenuated inversion recovery sequence, and CSF amyloid and tau markers...
October 11, 2016: Journal of Alzheimer's Disease: JAD
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