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https://www.readbyqxmd.com/read/28222300/free-and-cued-selective-reminding-test-accuracy-for-alzheimer-s-and-neurodegenerative-disease-differential-diagnosis-a-large-scale-biomarker-characterized-monocenter-cohort-study-clinad
#1
Marc Teichmann, Stéphane Epelbaum, Dalila Samri, Marcel Levy Nogueira, Agnès Michon, Harald Hampel, Foudil Lamari, Bruno Dubois
INTRODUCTION: The International Working Group recommended the Free and Cued Selective Reminding Test (FCSRT) as a sensitive detector of the amnesic syndrome of the hippocampal type in typical Alzheimer's disease (AD). But does it differentiate AD from other neurodegenerative diseases? METHODS: We assessed the FCSRT and cerebrospinal fluid (CSF) AD biomarkers in 992 cases. Experts, blinded to biomarker data, attributed in 650 cases a diagnosis of typical AD, frontotemporal dementia, posterior cortical atrophy, Lewy body disease, progressive supranuclear palsy, corticobasal syndrome, primary progressive aphasias, "subjective cognitive decline," or depression...
February 18, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28220718/the-big-imitator-strikes-again-a-case-report-of-neurosyphilis-in-a-patient-with-newly-diagnosed-hiv
#2
Sévérine de Bruijn, Chris Kenyon, Nicolas Léonard, Erika Vlieghe
BACKGROUND: Neurosyphilis is the result of an infection of the central nervous system caused by the spirochete Treponema pallidum. Its clinical presentation includes meningovascular syphilis, tabes dorsalis, and dementia paralytica, resulting in a wide range of symptoms such as psychosis, Parkinsonism, and depression. CASE REPORT: A 49-year-old male was admitted to a psychiatric hospital because of social withdrawal and self-neglect, indicative of a major depression...
February 21, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28219620/brain-structural-correlates-of-executive-and-social-cognition-profiles-in-behavioral-variant-frontotemporal-dementia-and-elderly-bipolar-disorder
#3
Sandra Baez, Clara Pinasco, María Roca, Jesica Ferrari, Blas Couto, Indira García-Cordero, Agustín Ibañez, Francy Cruz, Pablo Reyes, Diana Matallana, Facundo Manes, Marcelo Cetcovich, Teresa Torralva
An early stage of behavioral variant frontotemporal dementia (bvFTD) often displays a mix of behavioral disturbances and personality changes hindering a differential diagnosis from elderly bipolar disorder (BD), making this process a big challenge. However, no studies have compared these pathologies from neuropsychological and neuroanatomical perspectives. The aim of the present study was to compare the executive functions (EF) and social cognition profiles as well as the structural neuroimaging of bvFTD and elderly patients with BD...
February 17, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28217759/frontal-gamma-aminobutyric-acid-concentrations-are-associated-with-cognitive-performance-in-older-adults
#4
Eric C Porges, Adam J Woods, Richard A E Edden, Nicolaas A J Puts, Ashley D Harris, Huaihou Chen, Amanda M Garcia, Talia R Seider, Damon G Lamb, John B Williamson, Ronald A Cohen
BACKGROUND: Gamma-aminobutyric acid (GABA), the brain's principal inhibitory neurotransmitter, has been associated with perceptual and attentional functioning. Recent application of magnetic resonance spectroscopy (MRS) provides in vivo evidence for decreasing GABA concentrations during adulthood. It is unclear, however, how age-related decrements in cerebral GABA concentrations contribute to cognitive decline, or whether previously reported declines in cerebral GABA concentrations persist during healthy aging...
January 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/28213864/electrical-stimulation-of-denervated-rat-skeletal-muscle-ameliorates-bone-fragility-and-muscle-loss-in-early-stage-disuse-musculoskeletal-atrophy
#5
Hiroyuki Tamaki, Kengo Yotani, Futoshi Ogita, Keishi Hayao, Kouki Nakagawa, Kazuhiro Sugawara, Hikari Kirimoto, Hideaki Onishi, Norikatsu Kasuga, Noriaki Yamamoto
We tested whether daily muscle electrical stimulation (ES) can ameliorate the decrease in cortical bone strength as well as muscle and bone geometric and material properties in the early stages of disuse musculoskeletal atrophy. 7-week-old male F344 rats were randomly divided into three groups: age-matched control group (Cont); a sciatic denervation group (DN); and a DN + direct electrical stimulation group (DN + ES). Denervated tibialis anterior (TA) muscle in the DN + ES group received ES with 16 mA at 10 Hz for 30 min/day, 6 days/week...
February 17, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28213071/pla2g6-accumulates-in-lewy-bodies-in-park14-and-idiopathic-parkinson-s-disease
#6
Yasuo Miki, Kunikazu Tanji, Fumiaki Mori, Akiyoshi Kakita, Hitoshi Takahashi, Koichi Wakabayashi
The histopathological hallmark of Parkinson's disease (PD) and dementia with Lewy bodies (DLB) is the occurrence of insoluble fibrillary aggregates known as Lewy bodies, in which phosphorylated α-synuclein (α-syn) is a major component. To date, familial PD-linked gene products, including α-syn, parkin, PINK-1, DJ-1 and LRRK2, are known to be involved in Lewy body formation. Phospholipase A2, group VI (PLA2G6) is the causative gene for PARK14-linked parkinsonism (PARK14), a familial form of juvenile-onset dystonia parkinsonism...
February 14, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28208139/mri-based-neuroanatomical-predictors-of-dysphagia-dysarthria-and-aphasia-in-patients-with-first-acute-ischemic-stroke%C3%A2
#7
Heather L Flowers, Mohammed A AlHarbi, David Mikulis, Frank L Silver, Elizabeth Rochon, David Streiner, Rosemary Martino
BACKGROUND: Due to the high post-stroke frequency of dysphagia, dysarthria, and aphasia, we developed comprehensive neuroanatomical, clinical, and demographic models to predict their presence after acute ischemic stroke. METHODS: The sample included 160 randomly selected first-ever stroke patients with confirmed infarction on magnetic resonance imaging from 1 tertiary stroke center. We documented acute lesions within 12 neuroanatomical regions and their associated volumes...
February 16, 2017: Cerebrovascular Diseases Extra
https://www.readbyqxmd.com/read/28196890/dync1h1-mutations-associated-with-neurological-diseases-compromise-processivity-of-dynein-dynactin-cargo-adaptor-complexes
#8
Ha Thi Hoang, Max A Schlager, Andrew P Carter, Simon L Bullock
Mutations in the human DYNC1H1 gene are associated with neurological diseases. DYNC1H1 encodes the heavy chain of cytoplasmic dynein-1, a 1.4-MDa motor complex that traffics organelles, vesicles, and macromolecules toward microtubule minus ends. The effects of the DYNC1H1 mutations on dynein motility, and consequently their links to neuropathology, are not understood. Here, we address this issue using a recombinant expression system for human dynein coupled to single-molecule resolution in vitro motility assays...
February 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28193117/exome-sequencing-identifies-de-novo-dync1h1-mutations-associated-with-distal-spinal-muscular-atrophy-and-malformations-of-cortical-development
#9
Yulin Chen, Yufei Xu, Guoqiang Li, Niu Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Yiping Shen, Jian Wang
Exome sequencing has become a formidable tool for identifying potential de novo variants in causative genes of human diseases, such as neurodegenerative disorders. This article describes a 16-month-old girl with spinal muscular atrophy with lower extremity predominance and a 13-month-old girl with malformations of cortical development. Exome sequencing identified a novel de novo heterozygous missense mutation c.3395G>A (p.Gly1132Glu) and a previously reported de novo heterozygous missense mutation c.10151G>A (p...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28192686/the-down-syndrome-brain-in-the-presence-and-absence-of-fibrillar-%C3%AE-amyloidosis
#10
Tiina Annus, Liam R Wilson, Julio Acosta-Cabronero, Arturo Cardenas-Blanco, Young T Hong, Tim D Fryer, Jonathan P Coles, David K Menon, Shahid H Zaman, Anthony J Holland, Peter J Nestor
People with Down syndrome (DS) have a neurodevelopmentally distinct brain and invariably developed amyloid neuropathology by age 50. This cross-sectional study aimed to provide a detailed account of DS brain morphology and the changes occuring with amyloid neuropathology. Forty-six adults with DS underwent structural and amyloid imaging-the latter using Pittsburgh compound B (PIB) to stratify the cohort into PIB-positive (n = 19) and PIB-negative (n = 27). Age-matched controls (n = 30) underwent structural imaging...
January 17, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28188918/evaluation-of-multimodal-segmentation-based-on-3d-t1-t2-and-flair-weighted-images-the-difficulty-of-choosing
#11
Tobias Lindig, Raviteja Kotikalapudi, Daniel Schweikardt, Pascal Martin, Friedemann Bender, Uwe Klose, Ulrike Ernemann, Niels K Focke, Benjamin Bender
Voxel-based morphometry is still mainly based on T1-weighted MRI scans. Misclassification of vessels and dura mater as gray matter has been previously reported. Goal of the present work was to evaluate the effect of multimodal segmentation methods available in SPM12, and their influence on identification of age related atrophy and lesion detection in epilepsy patients. 3D T1-, T2- and FLAIR-images of 77 healthy adults (mean age 35.8 years, 19-66 years, 45 females), 7 patients with malformation of cortical development (MCD) (mean age 28...
February 7, 2017: NeuroImage
https://www.readbyqxmd.com/read/28183367/selective-functional-disconnection-of-the-orbitofrontal-subregions-in-schizophrenia
#12
Y Xu, W Qin, C Zhuo, L Xu, J Zhu, X Liu, C Yu
BACKGROUND: As a disconnection syndrome, schizophrenia has shown impaired resting-state functional connectivity (rsFC) in the orbitofrontal cortex (OFC); however, the OFC is a rather heterogeneous region and the rsFC changes in the OFC subregions remain unknown. METHOD: A total of 98 schizophrenia patients and 102 healthy controls underwent resting-state functional MRI using a sensitivity-encoded spiral-in imaging sequence (SENSE-SPIRAL) to reduce susceptibility-induced signal loss and distortion...
February 10, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28182114/evolution-of-cerebral-atrophy-in-a-patient-with-super-refractory-status-epilepticus-treated-with-barbiturate-coma
#13
Christopher R Newey, Pravin George, Premkumar Nattanmai, Christine Ahrens, Stephen Hantus, Aarti Sarwal
Introduction. Status epilepticus is associated with neuronal breakdown. Radiological sequelae of status epilepticus include diffusion weighted abnormalities and T2/FLAIR cortical hyperintensities corresponding to the epileptogenic cortex. However, progressive generalized cerebral atrophy from status epilepticus is underrecognized and may be related to neuronal death. We present here a case of diffuse cerebral atrophy that developed during the course of super refractory status epilepticus management despite prolonged barbiturate coma...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28180083/lateralized-occipital-degeneration-in-posterior-cortical-atrophy-predicts-visual-field-deficits
#14
Rebecca S Millington, Merle James-Galton, Mari N Maia Da Silva, Gordon T Plant, Holly Bridge
BACKGROUND: Posterior cortical atrophy (PCA), the visual variant of Alzheimer's disease, leads to high-level visual deficits such as alexia or agnosia. Visual field deficits have also been identified, but often inconsistently reported. Little is known about the pattern of visual field deficits or the underlying cortical changes leading to this visual loss. METHODS: Multi-modal magnetic resonance imaging was used to investigate differences in gray matter volume, cortical thickness, white matter microstructure and functional activity in patients with PCA compared to age-matched controls...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28176436/differential-microstructural-and-morphological-abnormalities-in-mild-cognitive-impairment-and-alzheimer-s-disease-evidence-from-cortical-and-deep-gray-matter
#15
Nan-Jie Gong, Chun-Chung Chan, Lam-Ming Leung, Chun-Sing Wong, Russell Dibb, Chunlei Liu
One aim of this study is to use non-Gaussian diffusion kurtosis imaging (DKI) for capturing microstructural abnormalities in gray matter of Alzheimer's disease (AD). The other aim is to compare DKI metrics against thickness of cortical gray matter and volume of deep gray matter, respectively. A cohort of 18 patients with AD, 18 patients with amnestic mild cognitive impairment (MCI), and 18 normal controls underwent morphological and DKI MR imaging. Images were investigated using regions-of-interest-based analyses for deep gray matter and vertex-wise analyses for cortical gray matter...
February 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28169581/gray-matter-trophism-cognitive-impairment-and-depression-in-patients-with-multiple-sclerosis
#16
Emanuele Pravatà, Maria A Rocca, Paola Valsasina, Gianna C Riccitelli, Claudio Gobbi, Giancarlo Comi, Andrea Falini, Massimo Filippi
BACKGROUND: Cognitive impairment and depression frequently affects patients with multiple sclerosis (MS). However, the relationship between the occurrence of depression and cognitive impairment and the development of cortical atrophy has not been fully elucidated yet. OBJECTIVES: To investigate the association of cortical and deep gray matter (GM) volume with depression and cognitive impairment in MS. METHODS: Three-dimensional (3D) T1-weighted scans were obtained from 126 MS patients and 59 matched healthy controls...
February 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28168853/prenatal-and-postnatal-presentations-of-corpus-callosum-agenesis-with-polymicrogyria-caused-by-egp5-mutation
#17
Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marlène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi-Buisson
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28159432/large-vessel-vasculopathy-in-children-with-sickle-cell-disease-a-magnetic-resonance-imaging-study-of-infarct-topography-and-focal-atrophy
#18
Kristin P Guilliams, Melanie E Fields, Dustin K Ragan, Yasheng Chen, Cihat Eldeniz, Monica L Hulbert, Michael M Binkley, James N Rhodes, Joshua S Shimony, Robert C McKinstry, Katie D Vo, Hongyu An, Jin-Moo Lee, Andria L Ford
BACKGROUND: Large-vessel vasculopathy (LVV) increases stroke risk in pediatric sickle cell disease beyond the baseline elevated stroke risk in this vulnerable population. The mechanisms underlying this added risk and its unique impact on the developing brain are not established. METHODS: We analyzed magnetic resonance imaging and angiography scans of 66 children with sickle cell disease and infarcts by infarct density heatmaps and Jacobian determinants, a metric utilized to delineate focal volume change, to investigate if infarct location, volume, frequency, and cerebral atrophy differed among hemispheres with and without LVV...
December 7, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28131236/regional-volumetric-change-in-parkinson-s-disease-with-cognitive-decline
#19
Myrlene Gee, Juergen Dukart, Bogdan Draganski, W R Wayne Martin, Derek Emery, Richard Camicioli
BACKGROUND: Parkinson's disease (PD), characterized by motor dysfunction and cognitive decline, may demonstrate specific patterns of brain atrophy. Although cross-sectional magnetic resonance imaging (MRI) studies show correlation between regional brain volume loss and cognitive impairment, there is only scarce evidence from longitudinal studies validating the link between cognition and brain anatomy in PD. OBJECTIVE: To test the relationship between magnitude and spatial extent of atrophy in PD patients with progressive, significant cognitive decline and dementia (PDD)...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28130700/higher-fasting-plasma-glucose-is-associated-with-increased-cortical-thinning-over-12-years-the-path-through-life-study
#20
Marnie E Shaw, Julia Nettersheim, Perminder S Sachdev, Kaarin J Anstey, Nicolas Cherbuin
Recent evidence suggests that type 2 diabetes (T2D) is associated with accelerated brain ageing, consistent with the observation of increased risk of cognitive impairment and dementia in affected individuals. Even non-diabetic individuals with impaired fasting plasma glucose (IFG) levels have shown increased cerebral atrophy, compared to individuals with normal glucose levels. We tested whether longitudinal rates of age-related cortical thinning were associated with fasting plasma glucose levels in a large sample (n = 322) of early-old age individuals (60-66 years) who were scanned with magnetic resonance imaging (1...
January 27, 2017: Brain Topography
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