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https://www.readbyqxmd.com/read/28634552/inherited-paediatric-motor-neuron-disorders-beyond-spinal-muscular-atrophy
#1
REVIEW
Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar
Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28634349/synuclein-impairs-trafficking-and-signaling-of-bdnf-in-a-mouse-model-of-parkinson-s-disease
#2
Fang Fang, Wanlin Yang, Jazmin B Florio, Edward Rockenstein, Brian Spencer, Xavier M Orain, Stephanie X Dong, Huayan Li, Xuqiao Chen, Kijung Sung, Robert A Rissman, Eliezer Masliah, Jianqing Ding, Chengbiao Wu
Recent studies have demonstrated that hyperphosphorylation of tau protein plays a role in neuronal toxicities of α-synuclein (ASYN) in neurodegenerative disease such as familial Alzheimer's disease (AD), dementia with Lewy bodies (DLB) and Parkinson's disease. Using a transgenic mouse model of Parkinson's disease (PD) that expresses GFP-ASYN driven by the PDGF-β promoter, we investigated how accumulation of ASYN impacted axonal function. We found that retrograde axonal trafficking of brain-derived neurotrophic factor (BDNF) in DIV7 cultures of E18 cortical neurons was markedly impaired at the embryonic stage, even though hyperphosphorylation of tau was not detectable in these neurons at this stage...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#3
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28631336/a-neuroimaging-approach-to-capture-cognitive-reserve-application-to-alzheimer-s-disease
#4
Anna C van Loenhoud, Alle Meije Wink, Colin Groot, Sander C J Verfaillie, Jos Twisk, Frederik Barkhof, Bart van Berckel, Philip Scheltens, Wiesje M van der Flier, Rik Ossenkoppele
Cognitive reserve (CR) explains interindividual differences in the ability to maintain cognitive function in the presence of neuropathology. We developed a neuroimaging approach including a measure of brain atrophy and cognition to capture this construct. In a group of 511 Alzheimer's disease (AD) biomarker-positive subjects in different stages across the disease spectrum, we performed 3T magnetic resonance imaging and predicted gray matter (GM) volume in each voxel based on cognitive performance (i.e. a global cognitive composite score), adjusted for age, sex, disease stage, premorbid brain size (i...
June 20, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28629404/white-matter-lesions-characterise-brain-involvement-in-moderate-to-severe-chronic-obstructive-pulmonary-disease-but-cerebral-atrophy-does-not
#5
Catherine A Spilling, Paul W Jones, James W Dodd, Thomas R Barrick
BACKGROUND: Brain pathology is relatively unexplored in chronic obstructive pulmonary disease (COPD). This study is a comprehensive investigation of grey matter (GM) and white matter (WM) changes and how these relate to disease severity and cognitive function. METHODS: T1-weighted and fluid-attenuated inversion recovery images were acquired for 31 stable COPD patients (FEV1 52.1% pred., PaO2 10.1 kPa) and 24 age, gender-matched controls. T1-weighted images were segmented into GM, WM and cerebrospinal fluid (CSF) tissue classes using a semi-automated procedure optimised for use with this cohort...
June 19, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28626410/neuromyelitis-optica-spectrum-disorder-coinciding-with-spinocerebellar-ataxia-type-31
#6
Yoshiaki Takahashi, Yasuhiro Manabe, Ryuta Morihara, Hisashi Narai, Toru Yamashita, Koji Abe
We report the unusual case of a 63-year-old man with spinocerebellar ataxia (SCA) type 31 who developed neuromyelitis optica spectrum disorder (NMOSD) 14 years after the onset of cerebellar symptoms. In addition to cerebellar atrophy, magnetic resonance imaging showed multiple high-intensity areas in the brain and a long thoracic cord lesion from Th1/2 to Th11. The combination of NMOSD and SCA31 is accidental. However, our case suggests that inflammatory processes could be involved in the pathogenesis of NMOSD and SCA31...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28625674/regional-cerebral-cortical-thickness-correlates-with-autonomic-outflow
#7
REVIEW
Katelyn N Wood, Mark B Badrov, Mark R Speechley, J Kevin Shoemaker
Dysregulation of autonomic control often develops with advancing age, favoring a chronic state of heightened sympathetic outflow with parasympathetic withdrawal. However, the mechanisms of this age-related autonomic impairment are not known. This study tested the hypothesis that inter-individual differences in autonomic outflow across the adult age-span are related to cerebral cortex thickness. A total of 55 healthy, active individuals participated in this study (21-73years; 18 female). Physical fitness was treated as a possible covariate (VO2peak: 26-81mL/kg/min)...
June 7, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28624681/semantic-word-category-processing-in-semantic-dementia-and-posterior-cortical-atrophy
#8
Zubaida Shebani, Karalyn Patterson, Peter J Nestor, Lara Z Diaz-de-Grenu, Kate Dawson, Friedemann Pulvermüller
There is general agreement that perisylvian language cortex plays a major role in lexical and semantic processing; but the contribution of additional, more widespread, brain areas in the processing of different semantic word categories remains controversial. We investigated word processing in two groups of patients whose neurodegenerative diseases preferentially affect specific parts of the brain, to determine whether their performance would vary as a function of semantic categories proposed to recruit those brain regions...
April 29, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28624227/efficient-smn-rescue-following-subcutaneous-tricyclo-dna-antisense-oligonucleotide-treatment
#9
Valérie Robin, Graziella Griffith, John-Paul L Carter, Christian J Leumann, Luis Garcia, Aurélie Goyenvalle
Spinal muscular atrophy (SMA) is a recessive disease caused by mutations in the SMN1 gene, which encodes the protein survival motor neuron (SMN), whose absence dramatically affects the survival of motor neurons. In humans, the severity of the disease is lessened by the presence of a gene copy, SMN2. SMN2 differs from SMN1 by a C-to-T transition in exon 7, which modifies pre-mRNA splicing and prevents successful SMN synthesis. Splice-switching approaches using antisense oligonucleotides (AONs) have already been shown to correct this SMN2 gene transition, providing a therapeutic avenue for SMA...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28622141/analysis-of-structural-brain-mri-and-multi-parameter-classification-for-alzheimer-s-disease
#10
Yingteng Zhang, Shenquan Liu
Incorporating with machine learning technology, neuroimaging markers which extracted from structural Magnetic Resonance Images (sMRI), can help distinguish Alzheimer's Disease (AD) patients from Healthy Controls (HC). In the present study, we aim to investigate differences in atrophic regions between HC and AD and apply machine learning methods to classify these two groups. T1-weighted sMRI scans of 158 patients with AD and 145 age-matched HC were acquired from the ADNI database. Five kinds of parameters (i...
June 15, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#11
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#12
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28619178/changes-in-subcortical-shape-and-cognitive-function-in-patients-with-chronic-insomnia
#13
Dae Lim Koo, Jeong-Hyeon Shin, Jae-Sung Lim, Joon-Kyung Seong, Eun Yeon Joo
OBJECTIVE: The aim of this study was to examine morphological changes in subcortical structures via surface-based analysis and to correlate local shape changes with cognitive function. METHODS: We analyzed subcortical brain morphology and compared the shape changes with clinical and neuropsychological features in patients with chronic insomnia. RESULTS: Hippocampal atrophy was associated with higher Pittsburgh Sleep Quality Index scores (r = -0...
July 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28617152/impact-of-immunoablation-and-autologous-hematopoietic-stem-cell-transplantation-on-gray-and-white-matter-atrophy-in-multiple-sclerosis
#14
Hyunwoo Lee, Kunio Nakamura, Sridar Narayanan, Robert Brown, Jacqueline Chen, Harold L Atkins, Mark S Freedman, Douglas L Arnold
BACKGROUND: Immunoablation and autologous hematopoietic stem cell transplantation (IA/aHSCT) halts relapses, white matter (WM) lesion formation, and pathological whole-brain (WB) atrophy in multiple sclerosis (MS) patients. Whether the latter was due to effects on gray matter (GM) or WM warranted further exploration. OBJECTIVE: To model GM and WM volume changes after IA/aHSCT to further understand the effects seen on WB atrophy. METHODS: GM and WM volume changes were calculated from serial baseline and follow-up magnetic resonance imaging (MRI) ranging from 1...
June 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28616036/correlation-between-white-matter-damage-and-gray-matter-lesions-in-multiple-sclerosis-patients
#15
Xue-Mei Han, Hong-Ji Tian, Zheng Han, Ce Zhang, Ying Liu, Jie-Bing Gu, Rohit Bakshi, Xia Cao
We observed the characteristics of white matter fibers and gray matter in multiple sclerosis patients, to identify changes in diffusion tensor imaging fractional anisotropy values following white matter fiber injury. We analyzed the correlation between fractional anisotropy values and changes in whole-brain gray matter volume. The participants included 20 patients with relapsing-remitting multiple sclerosis and 20 healthy volunteers as controls. All subjects underwent head magnetic resonance imaging and diffusion tensor imaging...
May 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28616022/therapeutic-opportunities-and-challenges-of-induced-pluripotent-stem-cells-derived-motor-neurons-for-treatment-of-amyotrophic-lateral-sclerosis-and-motor-neuron-disease
#16
REVIEW
Manoj Kumar Jaiswal
Amyotrophic lateral sclerosis (ALS) and motor neuron diseases (MNDs) are progressive neurodegenerative diseases that affect nerve cells in the brain affecting upper and lower motor neurons (UMNs/LMNs), brain stem and spinal cord. The clinical phenotype is characterized by loss of motor neurons (MNs), muscular weakness and atrophy eventually leading to paralysis and death due to respiratory failure within 3-5 years after disease onset. No effective treatment or cure is currently available that halts or reverses ALS and MND except FDA approved drug riluzole that only modestly slows the progression of ALS in some patients...
May 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28612835/coexisting-variants-in-ostm1-and-maneal-cause-a-complex-neurodegenerative-disorder-with-nbia-like-brain-abnormalities
#17
Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has not been associated with human disease so far. The child suffered from severe infantile-onset neurodegeneration that could not be stopped by bone marrow transplantation...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28610948/adaptive-capacity-an-evolutionary-neuroscience-model-linking-exercise-cognition-and-brain-health
#18
REVIEW
David A Raichlen, Gene E Alexander
The field of cognitive neuroscience was transformed by the discovery that exercise induces neurogenesis in the adult brain, with the potential to improve brain health and stave off the effects of neurodegenerative disease. However, the basic mechanisms underlying exercise-brain connections are not well understood. We use an evolutionary neuroscience approach to develop the adaptive capacity model (ACM), detailing how and why physical activity improves brain function based on an energy-minimizing strategy. Building on studies showing a combined benefit of exercise and cognitive challenge to enhance neuroplasticity, our ACM addresses two fundamental questions: (i) what are the proximate and ultimate mechanisms underlying age-related brain atrophy, and (ii) how do lifestyle changes influence the trajectory of healthy and pathological aging?...
June 10, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28610695/a-fuzzy-based-system-reveals-alzheimer-s-disease-onset-in-subjects-with-mild-cognitive-impairment
#19
Sabina Tangaro, Annarita Fanizzi, Nicola Amoroso, Roberto Bellotti
Alzheimer's Disease (AD) is the most frequent neurodegenerative form of dementia. Although dementia cannot be cured, it is very important to detect preclinical AD as early as possible. Several studies demonstrated the effectiveness of the joint use of structural Magnetic Resonance Imaging (MRI) and cognitive measures to detect and track the progression of the disease. Since hippocampal atrophy is a well known biomarker for AD progression state, we propose here a novel methodology, exploiting it as a searchlight to detect the best discriminating features for the classification of subjects with Mild Cognitive Impairment (MCI) converting (MCI-c) or not converting (MCI-nc) to AD...
June 2017: Physica Medica: PM
https://www.readbyqxmd.com/read/28609544/acute-glucose-and-lactate-metabolism-are-associated-with-cognitive-recovery-following-traumatic-brain-injury
#20
Christina Mannino, Thomas C Glenn, David A Hovda, Paul M Vespa, David L McArthur, John D Van Horn, Matthew J Wright
Traumatic brain injury (TBI) is associated with acute cerebral metabolic crisis (ACMC). ACMC-related atrophy appears to be prominent in frontal and temporal lobes following moderate-to-severe TBI. This atrophy is correlated with poorer cognitive outcomes in TBI. The current study investigated ability of acute glucose and lactate metabolism to predict long-term recovery of frontal-temporal cognitive function in participants with moderate-to-severe TBI. Cerebral metabolic rate of glucose and lactate were measured by the Kety-Schmidt method on days 0-7 post-injury...
June 13, 2017: Journal of Neuroscience Research
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