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https://www.readbyqxmd.com/read/28629604/novel-fkrp-mutations-in-a-japanese-mdc1c-sibship-clinically-diagnosed-with-fukuyama-congenital-muscular-dystrophy
#1
Mieko Yoshioka, Kazuhiro Kobayashi, Tatsushi Toda
INTRODUCTION: Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD. We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries. PATIENTS: Two affected siblings, individuals 1 (I-1, male) and 2 (I-2, female), were born uneventfully to unaffected, non-consanguineous parents. Severe hypotonia was soon apparent and serum CK levels were elevated: I-1: 1025 IU/L (normal range <130 IU/L) and I-2: 5350 IU/L...
June 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28629576/differentiation-of-brain-tumor-related-edema-based-on-3d-t1rho-imaging
#2
J E Villanueva-Meyer, R F Barajas, M C Mabray, W Chen, A Shankaranarayanan, P Koon, I J Barani, T Tihan, S Cha
BACKGROUND AND PURPOSE: Cerebral edema associated with brain tumors is an important source of morbidity. Its type depends largely on the capillary ultra-structures of the histopathologic subtype of underlying brain tumor. The purpose of our study was to differentiate vasogenic edema associated with brain metastases and infiltrative edema related to diffuse gliomas using quantitative 3D T1 rho (T1ρ) imaging. MATERIALS AND METHODS: Preoperative MR examination including whole brain 3D T1ρ imaging was performed in 23 patients with newly diagnosed brain tumors (9 with metastasis, 8 with lower grade glioma, LGG, 6 with glioblastoma, GBM)...
June 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28628708/brain-calcifications-in-adult-onset-genetic-leukoencephalopathies-a-review
#3
Xavier Ayrignac, Gaël Nicolas, Clarisse Carra-Dallière, Didier Hannequin, Pierre Labauge
Importance: Adult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a heterogeneous group of disorders with new diagnostic approaches and potential treatments. In the new era of genomics, the challenging interpretation of individual genetic variations requires an accurate phenotypic description and classification. Clinical and magnetic resonance imaging (MRI)-based approaches have been proposed to improve the diagnostic process of adult-onset leukoencephalopathies...
June 19, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28602597/performance-comparison-of-10-different-classification-techniques-in-segmenting-white-matter-hyperintensities-in-aging
#4
Mahsa Dadar, Josefina Maranzano, Karen Misquitta, Cassandra J Anor, Vladimir S Fonov, M Carmela Tartaglia, Owen T Carmichael, Charles Decarli, D Louis Collins
INTRODUCTION: White matter hyperintensities (WMHs) are areas of abnormal signal on magnetic resonance images (MRIs) that characterize various types of histopathological lesions. The load and location of WMHs are important clinical measures that may indicate the presence of small vessel disease in aging and Alzheimer's disease (AD) patients. Manually segmenting WMHs is time consuming and prone to inter-rater and intra-rater variabilities. Automated tools that can accurately and robustly detect these lesions can be used to measure the vascular burden in individuals with AD or the elderly population in general...
June 10, 2017: NeuroImage
https://www.readbyqxmd.com/read/28600458/structural-mri-markers-of-brain-aging-early-after-ischemic-stroke
#5
Emilio Werden, Toby Cumming, Qi Li, Laura Bird, Michele Veldsman, Heath R Pardoe, Graeme Jackson, Geoffrey A Donnan, Amy Brodtmann
OBJECTIVE: To examine associations between ischemic stroke, vascular risk factors, and MRI markers of brain aging. METHODS: Eighty-one patients (mean age 67.5 ± 13.1 years, 31 left-sided, 61 men) with confirmed first-ever (n = 66) or recurrent (n = 15) ischemic stroke underwent 3T MRI scanning within 6 weeks of symptom onset (mean 26 ± 9 days). Age-matched controls (n = 40) completed identical testing. Multivariate regression analyses examined associations between group membership and MRI markers of brain aging (cortical thickness, total brain volume, white matter hyperintensity [WMH] volume, hippocampal volume), normalized against intracranial volume, and the effects of vascular risk factors on these relationships...
June 9, 2017: Neurology
https://www.readbyqxmd.com/read/28600443/prevalence-risk-factors-and-consequences-of-cerebral-small-vessel-diseases-data-from-three-asian-countries
#6
Saima Hilal, Vincent Mok, Young Chul Youn, Adrian Wong, Mohammad Kamran Ikram, Christopher Li-Hsian Chen
BACKGROUND: Cerebral small vessel disease (SVD) has been suggested to be more common in Asians compared with Caucasians. However, data from population-based studies in Asia are lacking. We report on the prevalence, risk factors and consequences of SVD from contemporary studies in three Asian countries using 3-Tesla MRI for the evaluation of SVD. METHODS: Clinical, cognitive and 3-Tesla brain MRI assessments were performed among participants of three studies from Singapore, Hong Kong and Korea...
June 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28596452/effect-of-long-term-vascular-care-on-progression-of-cerebrovascular-lesions-magnetic-resonance-imaging-substudy-of-the-prediva-trial-prevention-of-dementia-by-intensive-vascular-care
#7
Jan Willem van Dalen, Eric P Moll van Charante, Matthan W A Caan, Philip Scheltens, Charles B L M Majoie, Aart J Nederveen, Willem A van Gool, Edo Richard
BACKGROUND AND PURPOSE: This study aimed to evaluate the effect of a nurse-led multidomain cardiovascular intervention on white matter hyperintensity (WMH) progression and incident lacunar infarcts in community-dwelling elderly with hypertension. METHODS: The preDIVA trial (Prevention of Dementia by Intensive Vascular Care) was an open-label, cluster-randomized controlled trial in community-dwelling individuals aged 70 to 78 years. General practices were assigned by computer-generated randomization to 6-year nurse-led, multidomain intensive vascular care or standard care...
June 8, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28593511/de-novo-exonic-duplication-of-atp1a2-in-italian-patient-with-hemiplegic-migraine-a-case-report
#8
Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Nappi Giuseppe, Marcella Neri, Cristina Cereda
BACKGROUND: Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine. CASE PRESENTATION: We describe the case of a young woman (33 year old) who suffered from the age of 8 years of episodic weakness of the limbs, associated to other subjective and objective features...
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28588075/cerebral-perfusion-and-the-risk-of-dementia-a-population-based-study
#9
Frank J Wolters, Hazel I Zonneveld, Albert Hofman, Aad van der Lugt, Peter J Koudstaal, Meike W Vernooij, M Arfan Ikram
Background -Cerebral hypoperfusion has previously been associated with mild cognitive impairment and dementia in various cross-sectional studies, but whether hypoperfusion precedes neurodegeneration is unknown. We prospectively determined the association of cerebral perfusion with subsequent cognitive decline and development of dementia. Methods -Between 2005 and 2012, we measured cerebral blood flow by 2D phase-contrast magnetic resonance imaging (MRI) in non-demented participants of the population-based Rotterdam Study...
June 6, 2017: Circulation
https://www.readbyqxmd.com/read/28585568/brain-tissue-pulsatility-is-increased-in-mid-life-depression-a-comparative-study-using-ultrasound-tissue-pulsatility-imaging
#10
Thomas Desmidt, Bruno Brizard, Paul-Armand Dujardin, Redouane Ternifi, Jean-Pierre Réméniéras, Frédéric Patat, Frédéric Andersson, Jean-Philippe Cottier, Emilie Vierron, Valérie Gissot, Kang Kim, Howard Aizenstein, Wissam El-Hage, Vincent Camus
Cerebrovascular disease (CVD) is consistently associated with late-life depression but poorly documented in midlife depression. It can be hypothesized that the relatively low sensitivity of conventional neuroimaging techniques does not allow the detection of subtle CVD in midlife depression. We used Tissue Pulsatility Imaging (TPI), a novel ultrasound (US) neuroimaging technique that has demonstrated good sensitivity to detect changes in the pulsatility of small brain volumes, to identify early and subtle changes in brain vascular function in midlife depression...
June 6, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28578804/human-anterolateral-entorhinal-cortex-volumes-are-associated-with-cognitive-decline-in-aging-prior-to-clinical-diagnosis
#11
Rosanna K Olsen, Lok-Kin Yeung, Alix Noly-Gandon, Maria C D'Angelo, Arber Kacollja, Victoria M Smith, Jennifer D Ryan, Morgan D Barense
We investigated whether older adults without subjective memory complaints, but who present with cognitive decline in the laboratory, demonstrate atrophy in medial temporal lobe (MTL) subregions associated with Alzheimer's disease. Forty community-dwelling older adults were categorized based on Montreal Cognitive Assessment (MoCA) performance. Total gray/white matter, cerebrospinal fluid, and white matter hyperintensity load were quantified from whole-brain T1-weighted and fluid-attenuated inversion recovery magnetic resonance imaging scans, whereas hippocampal subfields and MTL cortical subregion volumes (CA1, dentate gyrus/CA2/3, subiculum, anterolateral and posteromedial entorhinal, perirhinal, and parahippocampal cortices) were quantified using high-resolution T2-weighted scans...
May 8, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28575478/the-preservation-of-cognition-1-yr-after-carotid-endarterectomy-in-patients-with-prior-cognitive-decline
#12
Robert J Dempsey, Daren C Jackson, Stephanie M Wilbrand, Carol C Mitchell, Sara E Berman, Sterling C Johnson, Nirvedh H Meshram, Tomy Varghese, Bruce P Hermann
BACKGROUND: Vascular cognitive decline is critically important in the course of atherosclerosis and stroke. OBJECTIVE: To explore the hypothesis that carotid endarterectomy (CEA) by removing an unstable plaque may slow the course of vascular cognitive decline in both symptomatic and asymptomatic patients. METHODS: Patients with clinically significant (>60%) carotid stenosis were studied preop and 1 yr post-CEA for clinical symptoms, vascular cognitive decline, instability of carotid plaque-presence of microemboli, brain white matter changes, and medical risk factors...
June 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28574812/associations-between-apoe-genotype-and-cerebral-small-vessel-disease-a-longitudinal-study
#13
Xiao Luo, Yerfan Jiaerken, Xinfeng Yu, Peiyu Huang, Tiantian Qiu, Yunlu Jia, Kaicheng Li, Xiaojun Xu, Zhujing Shen, Xiaojun Guan, Jiong Zhou, Minming Zhang
OBJECTIVE: It remains unclear if and how the interactions between APOE genotypes and cerebral small-vessel diseases (CSVD) lead to cognitive decline in the long term. Based on ADNI cohort, this longitudinal study aimed to clarify the potential relationship among APOE genotype, CSVD and cognition by integrating multi-level data. METHOD: There were 135 healthy elderly (including ε2, ε4 allele carriers and ε3 homozygotes) who had completed two years' follow-up. MRI markers of CSVD, including white matter hyperintensities (WMH), dilated perivascular space (dPVS), microbleeds and lacune, were assessed...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28574155/a-systematic-review-of-neuroimaging-in-delirium-predictors-correlates-and-consequences
#14
Anita Nitchingham, Varun Kumar, Susan Shenkin, Karen J Ferguson, Gideon A Caplan
OBJECTIVE: Neuroimaging advances our understanding of delirium pathophysiology and its consequences. A previous systematic review identified 12 studies (total participants N = 764, delirium cases N = 194; years 1989-2007) and found associations with white matter hyperintensities (WMH) and cerebral atrophy. Our objectives were to perform an updated systematic review of neuroimaging studies in delirium published since January 2006 and summarise the available literature on predictors, correlates or outcomes...
June 2, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28571231/central-variant-of-posterior-reversible-encephalopathy-syndrome-a-rare-case-report
#15
K G Srinivasan, Padhmini Balasubramanian, K R Mayilvaganan, Usha Nandhini Kannan, Mohamed Bilal
Posterior Reversible Encephalopathy Syndrome (PRES) is a clinicoradiological condition associated with headache, altered mental status, dizziness and white matter vasogenic oedema in parieto-occipital region. It is often associated with hypertension but can also occur in diverse clinical settings like immunosuppression, eclampsia, etc. It is due to failure of autoregulatory mechanism of posterior circulation in response to change in blood pressure. We hereby report a rare case of central variant of PRES secondary to severe hypertension diagnosed with 3T MRI...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28566448/disease-progression-and-regression-in-sporadic-small-vessel-disease-insights-from-neuroimaging
#16
REVIEW
Esther M C van Leijsen, Frank-Erik de Leeuw, Anil M Tuladhar
Cerebral small vessel disease (SVD) is considered the most important vascular contributor to the development of dementia. Comprehensive characterization of the time course of disease progression will result in better understanding of aetiology and clinical consequences of SVD. SVD progression has been studied extensively over the years, usually describing change in SVD markers over time using neuroimaging at two time points. As a consequence, SVD is usually seen as a rather linear, continuously progressive process...
June 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28564681/association-of-microvascular-dysfunction-with-late-life-depression-a-systematic-review-and-meta-analysis
#17
Marnix J M van Agtmaal, Alfons J H M Houben, Frans Pouwer, Coen D A Stehouwer, Miranda T Schram
Importance: The etiologic factors of late-life depression are still poorly understood. Recent evidence suggests that microvascular dysfunction is associated with depression, which may have implications for prevention and treatment. However, this association has not been systematically reviewed. Objective: To examine the associations of peripheral and cerebral microvascular dysfunction with late-life depression. Data Sources: A systematic literature search was conducted in MEDLINE and EMBASE for and longitudinal studies published since inception to October 16, 2016, that assessed the associations between microvascular dysfunction and depression...
May 31, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28559496/magnetic-resonance-imaging-of-cardiovascular-function-and-the-brain-is-dementia-a-cardiovascular-driven-disease
#18
REVIEW
Albert de Roos, Jeroen van der Grond, Gary Mitchell, Jos Westenberg
The proximal aorta acts as a coupling device between heart and brain perfusion, modulating the amount of pressure and flow pulsatility transmitted into the cerebral microcirculation. Stiffening of the proximal aorta is strongly associated with age and hypertension. The detrimental effects of aortic stiffening may result in brain damage as well as heart failure. The resulting cerebral small vessel disease and heart failure may contribute to early cognitive decline and (vascular) dementia. This pathophysiological sequence of events underscores the role of cardiovascular disease as a contributory mechanism in causing cognitive decline and dementia and potentially may provide a starting point for prevention and treatment...
May 30, 2017: Circulation
https://www.readbyqxmd.com/read/28555103/blood-pressure-control-in-aging-predicts-cerebral-atrophy-related-to-small-vessel-white-matter-lesions
#19
Kyle C Kern, Clinton B Wright, Kaitlin L Bergfield, Megan C Fitzhugh, Kewei Chen, James R Moeller, Nooshin Nabizadeh, Mitchell S V Elkind, Ralph L Sacco, Yaakov Stern, Charles S DeCarli, Gene E Alexander
Cerebral small-vessel damage manifests as white matter hyperintensities and cerebral atrophy on brain MRI and is associated with aging, cognitive decline and dementia. We sought to examine the interrelationship of these imaging biomarkers and the influence of hypertension in older individuals. We used a multivariate spatial covariance neuroimaging technique to localize the effects of white matter lesion load on regional gray matter volume and assessed the role of blood pressure control, age and education on this relationship...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28554961/atrial-fibrillation-is-associated-with-anterior-predominant-white-matter-lesions-in-patients-presenting-with-embolic-stroke
#20
Yunis Mayasi, Johanna Helenius, David D McManus, Richard P Goddeau, Adalia H Jun-O'Connell, Majaz Moonis, Nils Henninger
OBJECTIVE: High white matter hyperintensity (WMH) burden is commonly found on brain MRI among patients with atrial fibrillation (AF). However, whether the link between AF and WMH extends beyond a common vascular risk factor profile is uncertain. We sought to determine whether AF relates to a distinct WMH lesion pattern which may suggest specific underlying pathophysiological relationships. METHODS: We retrospectively analysed a cohort of consecutive patients presenting with embolic stroke at an academic hospital and tertiary referral centre between March 2010 and March 2014...
May 27, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
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