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Subcortical white matter abnormalities of the brain

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https://www.readbyqxmd.com/read/28588848/a-case-of-megalencephalic-leukoencephalopathy-with-subcortical-cysts-type-1-was-identified-with-a-novel-compound-heterozygous-alteration-c-135delc-c-423-2dupt-in-china
#1
Cong-Ling Dai, Wen-Bin He, Juan Du, Yue-Qiu Tan, Guang-Xiu Lu, Wen Li
We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing analysis for the c.423+2dupT variant revealed skipping of exon 5.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28573962/anatomical-integration-and-rich-club-connectivity-in-euthymic-bipolar-disorder
#2
S O'Donoghue, L Kilmartin, D O'Hora, L Emsell, C Langan, S McInerney, N J Forde, A Leemans, B Jeurissen, G J Barker, P McCarthy, D M Cannon, C McDonald
BACKGROUND: Although repeatedly associated with white matter microstructural alterations, bipolar disorder (BD) has been relatively unexplored using complex network analysis. This method combines structural and diffusion magnetic resonance imaging (MRI) to model the brain as a network and evaluate its topological properties. A group of highly interconnected high-density structures, termed the 'rich-club', represents an important network for integration of brain functioning. This study aimed to assess structural and rich-club connectivity properties in BD through graph theory analyses...
July 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28549449/fatal-familial-insomnia-with-abnormal-signals-on-routine-mri-a-case-report-and-literature-review
#3
Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu, Wei Qiu
BACKGROUND: Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presenting with diffuse abnormal signals on MRI, later confirmed as combined with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CASE PRESENTATION: The patient was a 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration...
May 26, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28470822/pericyte-derived-bone-morphogenetic-protein-4-underlies-white-matter-damage-after-chronic-hypoperfusion
#4
Maiko T Uemura, Masafumi Ihara, Takakuni Maki, Takayuki Nakagomi, Seiji Kaji, Kengo Uemura, Tomohiro Matsuyama, Raj N Kalaria, Ayae Kinoshita, Ryosuke Takahashi
Subcortical small vessel disease (SVD) is characterized by white matter damage resulting from arteriolosclerosis and chronic hypoperfusion. Transforming growth factor beta 1 (TGFB1) is dysregulated in the hereditary SVD, CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy). However, very little is known about the role of the largest group in the TGFB superfamily - the bone morphogenetic proteins (BMPs) - in SVD pathogenesis. The aim of this study was to characterize signaling abnormalities of BMPs in sporadic SVD...
May 4, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28467985/effects-of-antenatal-melatonin-treatment-on-the-cerebral-vasculature-in-an-ovine-model-of-fetal-growth-restriction
#5
Margie Castillo-Melendez, Tamara Yawno, Amy Sutherland, Graham Jenkin, Euan M Wallace, Suzanne L Miller
Chronic moderate hypoxia, such as occurs in fetal growth restriction (FGR) during gestation, compromises the blood-brain barrier (BBB) and results in structural abnormalities of the cerebral vasculature. We have previously determined the neuroprotective and antioxidant effects of maternal administration of melatonin (MLT) on growth-restricted newborn lambs. The potential of maternal MLT therapy for the treatment of cerebrovascular dysfunction-associated developmental hypoxia has also been demonstrated in newborn lambs...
May 4, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28441824/-clinical-and-neuroimaging-features-of-acute-encephalopathy-after-status-epilepticus-in-dravet-syndrome
#6
X J Tian, Y H Zhang, A J Liu, X L Yang, Q Zeng, Z X Yang, J T Ye, X Y Liu, Y W Jiang, X R Wu
Objective: To investigate the clinical and neuroimaging characteristics of acute encephalopathy (AE) after status epilepticus (SE) of patients with Dravet syndrome (DS). Method: The clinical data of DS patients who had AE (coma ≥24 h) after SE were retrospectively collected from February 2005 to August 2016 in Peking University First Hospital and SCN1A gene tests were performed.The clinical and neuroimaging features were summarized. Result: Twenty-two patients (9 males and 13 females) with AE were collected among 412 DS patients during follow-up...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28414663/not-another-acs-rule-out
#7
S Preston, R Nelson, M Watts, D Smith, T Dewenter, D Spruill
CASE: A 50 year old African-American woman with diabetes, hypertension, and hyperlipidemia presented with progressively worsening retro-sternal chest pain, exacerbated by activity and relieved by rest. She also endorsed a thirty-pound unintentional weight loss, and dysphagia. She was dysarthric with left-sided Bell's Palsy and a palpable left axillary lymph node. She had been evaluated at several hospitals in the previous months for similar typical chest pain. Her troponin values were normal, and an EKG showed T-wave inversions in leads I and aVL...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28413125/transient-dysautonomia-in-an-acute-phase-of-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#8
Yuko Ichimiya, Noriyuki Kaku, Yasunari Sakai, Fumiya Yamashita, Wakato Matsuoka, Mamoru Muraoka, Satoshi Akamine, Soichi Mizuguchi, Michiko Torio, Yoshitomo Motomura, Yuichiro Hirata, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Hidetoshi Takada, Yoshihiko Maehara, Shouichi Ohga
Paroxysmal sympathetic hyperactivity (PSH) is a dysautonomic condition that is associated with various types of acquired brain injuries. Traumatic brain lesions have been documented as the leading cause of PSH. However, detailed clinical features of pediatric PSH caused by intrinsic brain lesions remain to be elusive. We present a 3-year-old boy, who had been diagnosed as having cerebral palsy, developmental delay and epilepsy after perinatal hypoxia-induced brain injury. He developed status epilepticus with fever on the third day of respiratory infection...
April 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28324197/the-spectrum-of-magnetic-resonance-findings-in-cerebrotendinous-xanthomatosis-redefinition-and-evidence-of-new-markers-of-disease-progression
#9
Andrea Mignarri, Maria Teresa Dotti, Antonio Federico, Nicola De Stefano, Marco Battaglini, Irene Grazzini, Paolo Galluzzi, Lucia Monti
Cerebrotendinous xanthomatosis (CTX) is a metabolic disease characterized by systemic signs and neurological impairment, which can be prevented if chenodeoxycholic acid (CDCA) treatment is started early. Despite brain MRI represents an essential diagnostic tool, the spectrum of findings is worth to be reappraised, and follow-up data are needed. We performed clinical evaluation and brain MRI in 38 CTX patients. Sixteen of them who were untreated at baseline examination underwent clinical and MRI follow-up after long-term treatment with CDCA...
March 21, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28222523/anomalous-white-matter-structure-and-the-effect-of-age-in-down-syndrome-patients
#10
Raquel Fenoll, Jesus Pujol, Susanna Esteba-Castillo, Susana de Sola, Núria Ribas-Vidal, Javier García-Alba, Gonzalo Sánchez-Benavides, Gerard Martínez-Vilavella, Joan Deus, Mara Dierssen, Ramón Novell-Alsina, Rafael de la Torre
BACKGROUND: Neural tissue alterations in Down syndrome are fully expressed at relatively late developmental stages. In addition, there is an early presence of neurodegenerative changes in the late life stages. OBJECTIVE: The aims of this study were both to characterize white matter abnormalities in the brain of adult Down syndrome patients using diffusion tensor imaging (DTI) and to investigate whether degenerative alterations in white matter structure are detectable before dementia is clinically evident...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28159909/organization-of-the-anterior-limb-of-the-internal-capsule-in-the-rat
#11
Veronique Coizet, Sarah R Heilbronner, Carole Carcenac, Philippe Mailly, Julia F Lehman, Marc Savasta, Oivier David, Jean-Michel Deniau, Henk J Groenewegen, Suzanne N Haber
Dysfunction of the orbitofrontal (OFC) and anterior cingulate (ACC) cortices has been linked with several psychiatric disorders, including obsessive-compulsive disorder, major depressive disorder, posttraumatic stress disorder, and addiction. These conditions are also associated with abnormalities in the anterior limb of the internal capsule, the white matter (WM) bundle carrying ascending and descending fibers from the OFC and ACC. Furthermore, deep-brain stimulation (DBS) for psychiatric disorders targets these fibers...
March 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28132975/a-case-of-neuromyelitis-optica-spectrum-disorder-nmosd-with-sj%C3%A3-gren-s-syndrome-manifested-only-brain-involvement-by-preceding-parotitis
#12
Takahiro Furukawa, Naoko Matsui, Keiko Tanaka, Yuishin Izumi, Ryuji Kaji
A 33 year-old woman presented with intentional incontinence, motor aphasia, supranuclear gaze palsy, and spasticity after parotitis. Brain magnetic resonance images (MRI) showed abnormal signaling in long corticospinal tract involving internal capsules and cerebral peduncles, middle cerebellar peduncle, and frontal subcortical white matter lesions. She had a long history of dry eye and mouth. Immunoserological study showed that she was positive for anti-SS-A, aquaporin 4 (AQP4), and AQP5 antibodies. She clinically showed not only Sjögren's syndrome but also neuromyelitis optica spectrum disorder (NMOSD) without optic neuritis or myelitis...
February 25, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28105707/binge-drinking-differentially-affects-cortical-and-subcortical-microstructure
#13
Laurel S Morris, Nicholas G Dowell, Mara Cercignani, Neil A Harrison, Valerie Voon
Young adult binge drinkers represent a model for endophenotypic risk factors for alcohol misuse and early exposure to repeated binge cycles. Chronic or harmful alcohol use leads to neurochemical, structural and morphological neuroplastic changes, particularly in regions associated with reward processing and motivation. We investigated neural microstructure in 28 binge drinkers compared with 38 matched healthy controls. We used a recently developed diffusion magnetic resonance imaging acquisition and analysis, which uses three-compartment modelling (of intracellular, extracellular and cerebrospinal fluid) to determine brain tissue microstructure features including neurite density and orientation dispersion index (ODI)...
January 20, 2017: Addiction Biology
https://www.readbyqxmd.com/read/28059798/sporadic-cases-with-novel-mutations-and-pedigree-in-hereditary-leukoencephalopathy-with-axonal-spheroids
#14
Liyong Wu, Jia Liu, Longze Sha, Xianling Wang, Jieying Li, Jing Dong, Jianping Jia
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant hereditary disease, featured by cerebral white matter degeneration with demyelination and axonal spheroids. We collected three gene-confirmed HDLS cases in our neurodegenerative clinic. Two HDLS cases were sporadic with novel mutations, while another case had a family history with previously described mutations. All three cases suffered memory problems with white matter lesions and pyramid signs. No obvious clinical differences were observed between sporadic and familial HDLS cases...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28046822/su-f-i-17-white-matter-track-based-analysis-at-limbic-abnormalities-in-cognitive-impairment
#15
R Juh, T Suh, J Han, C Kim, C Oh
PURPOSE: Mild cognitive impairment with depression (MCID) is common and associated with disability and cognitive impairment, with high probability of relapse. Hypothesize that a sign of WM disintegration would be observed in MCID than MCI nondepression (MCIND), especially in frontal and limbic regions and patients with depression would show reduced GM density in the hippocampus, amygdala, anterior gyrus cingulate, and dorsolateral prefrontal cortex (DLPFC) and dorsomedial prefrontal cortex (DMPFC) the abnormalities of long association fiber tracts integrity are correlated with geriatric depression...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28019685/tauopathy-with-hippocampal-4-repeat-tau-immunoreactive-spherical-inclusions-a-report-of-three-cases
#16
Gabor G Kovacs, Linda K Kwong, Murray Grossman, David J Irwin, Edward B Lee, John L Robinson, Eunran Suh, Vivianna M Van Deerlin, Virginia M Lee, John Q Trojanowski
Tauopathies are a major group of neurodegenerative proteinopathies characterized by the accumulation of abnormal and hyperphosphorylated tau proteins in the brain. Tau pathology is characterized as 3R (repeat) or 4R predominant or mixed 3R and 4R type. Here we report three cases lacking mutations in the microtubule associated protein tau (MAPT) gene with unusual tau pathology. The age at onset and duration of illness, respectively, were 63 and 20 years (male), 67 and 5 years (female) and 72 and 20 years (female)...
December 26, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27942447/altered-structural-and-functional-thalamocortical-networks-in-secondarily-generalized-extratemporal-lobe-seizures
#17
Syu-Jyun Peng, Yue-Loong Hsin
Structural and functional abnormalities in the thalamocortical network in primary generalized epilepsies or mesial temporal lobe epilepsy have recently been identified by voxel-wise analyses of neuroimaging. However, evidence is needed regarding the profiles of the thalamocortical network in patients with secondarily generalized seizures from focal neocortical sources. We used high-resolution T1-weighted, diffusion-tensor and resting-state functional MR imaging (rs-fMRI) to examine 16 patients with secondarily generalized extratemporal lobe seizures and 16 healthy controls...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27913960/neuroimaging-abnormalities-in-clade-c-hiv-are-independent-of-tat-genetic-diversity
#18
Robert H Paul, Sarah Phillips, Jacqueline Hoare, David H Laidlaw, Ryan Cabeen, Gayla R Olbricht, Yuqing Su, Dan J Stein, Susan Engelbrecht, Soraya Seedat, Lauren E Salminen, Laurie M Baker, Jodi Heaps, John Joska
Controversy remains regarding the neurotoxicity of clade C human immunodeficiency virus (HIV-C). When examined in preclinical studies, a cysteine to serine substitution in the C31 dicysteine motif of the HIV-C Tat protein (C31S) results in less severe brain injury compared to other viral clades. By contrast, patient cohort studies identify significant neuropsychological impairment among HIV-C individuals independent of Tat variability. The present study clarified this discrepancy by examining neuroimaging markers of brain integrity among HIV-C individuals with and without the Tat substitution...
April 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/27899912/specific-mri-abnormalities-reveal-severe-perrault-syndrome-due-to-clpp-defects
#19
Tom E J Theunissen, Radek Szklarczyk, Mike Gerards, Debby M E I Hellebrekers, Elvira N M Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola G M van Berkel, Marjo S van der Knaap, Irenaeus F M de Coo, Hubert J M Smeets
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect but also to identify other patients with defects in the same gene. In an infant patient with sensorineural hearing loss, psychomotor retardation, and epilepsy, WES resulted in identification of a novel homozygous CLPP frameshift mutation (c...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27862544/brain-morphology-and-cortical-thickness-variations-in-systemic-lupus-erythematosus-patients-differences-among-neurological-psychiatric-and-nonneuropsychiatric-manifestations
#20
Nicolle Zimmermann, Diogo Goulart Corrêa, Gustavo Tukamoto, Tania Netto, Denis Batista Pereira, Rochele Paz Fonseca, Emerson Leandro Gasparetto
PURPOSE: To determine whether systemic lupus erythematosus (SLE) affecting subcortical white matter volumes, deep gray matter volumes, and cortical thickness differ between groups of SLE patients with psychiatric (P-SLE), neurological (N-SLE), or nonneuropsychiatric (non-NPSLE) presentations. MATERIALS AND METHODS: Sixty-seven participants were divided into three groups (P-SLE [n = 19], N-SLE [n = 12], and non-NPSLE [n = 36]) and examined with a 1.5T MRI scanner...
November 8, 2016: Journal of Magnetic Resonance Imaging: JMRI
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