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Pyramidal syndrome

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https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#1
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28258683/-patient-with-creutzfeld-jakob-disease-a-case-report
#2
Żanna Pastuszak, Kazimierz Tomczykiewicz, Adam Stępień, Renata Piusińska-Macoch, Joanna Klimczuk, Agnieszka Rolewska, Dariusz Galbarczyk
Creutzfeldt-Jakob disease (CJD) is a rare syndrome of central nervous system caused by infectious protein called prion. There are four types of CJD: sporadic (sCJD), familial (fCJD), jatrogenic (jCJD) and variant (vCJD). The most frequent symptoms are rapidly progressing dementia, mioclonias, akinetic mutism and signs of cerebellum dysfunction. In sCJD, MRI often shows high signal intensity in the putamen and caudate nucleus on T2-weighted images while in vCJD pulvinar sign is often observed. 70% patients with CJD often has characteristic generalized periodic sharp wave pattern in electroencephalography...
February 20, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28256436/parkinsonian-pyramidal-syndromes-a-systematic-review
#3
REVIEW
Christine Tranchant, Meriam Koob, Mathieu Anheim
INTRODUCTION: Parkinsonian-Pyramidal syndrome (PPS), defined as the combination of both pyramidal and parkinsonian signs is a concept that recently emerged. PPS may manifest itself in numerous neurodegenerative diseases, many of these being inherited. Their diagnosis is a major challenge for the clinical management, for the prognosis, for genetic counselling and, in a few cases, which should not be neglected, for specific treatment. OBJECTIVE: Our objective is to provide a review of PPS and an algorithm in order to guide their diagnosis in clinical practice...
February 22, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28229087/modeling-williams-syndrome-with-induced-pluripotent-stem-cells
#4
Thanathom Chailangkarn, Alysson R Muotri
The development of induced pluripotent stem cells (iPSCs) like never before has opened novel opportunity to study diseases in relevant cell types. In our recent study, Williams syndrome (WS), a rare genetic neurodevelopmental disorder, that is caused by hemizygous deletion of 25-28 genes on chromosome 7, is of interest because of its unique cognitive and social profiles. Little is known about haploinsufficiency effect of those deleted genes on molecular and cellular phenotypes at the neural level due to the lack of relevant human cellular model...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28217086/increased-sparsity-of-hippocampal-ca1-neuronal-ensembles-in-a-mouse-model-of-down-syndrome-assayed-by-arc-expression
#5
Constance L Smith-Hicks, Peiling Cai, Alena V Savonenko, Roger H Reeves, Paul F Worley
Down syndrome (DS) is the leading chromosomal cause of intellectual disability, yet the neural substrates of learning and memory deficits remain poorly understood. Here, we interrogate neural networks linked to learning and memory in a well-characterized model of DS, the Ts65Dn mouse. We report that Ts65Dn mice exhibit exploratory behavior that is not different from littermate wild-type (WT) controls yet behavioral activation of Arc mRNA transcription in pyramidal neurons of the CA1 region of the hippocampus is altered in Ts65Dn mice...
2017: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/28216336/pathophysiology-of-absence-epilepsy-insights-from-genetic-models
#6
REVIEW
Antoine Depaulis, Stéphane Charpier
Absence Epilepsy (AE) is a prototypic epileptic syndrome that develops during brain maturation but cannot be fully explored in human patients. Genetic animal models, especially rats with spike-and-wave discharges recorded on the electroencephalogram, the hallmark of absence seizures, offer strong face validity with the human pathology that allows precise exploration of the pathophysiology of this form of epilepsy. Using an array of different methods, recent studies have demonstrated that spike-and-wave discharges are initiated in the primary somatosensory cortex and then rapidly propagate to motor cortices and thalamic nuclei...
February 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28181693/frontotemporal-lobar-degeneration-tdp-with-multiple-system-atrophy-phenocopy-syndrome
#7
Ana Luísa Sousa, Ricardo Taipa, Niall Quinn, Tamas Revesz, Manuel Melo Pires, Marina Magalhães
Multiple system atrophy (MSA) is a neurodegenerative disorder presenting with parkinsonism, cerebellar involvement, autonomic dysfunction and pyramidal signs (1). Two main clinical subtypes of MSA are recognized: a parkinsonian-type (MSA-P) associated with predominant nigrostriatal degeneration and a cerebellar-type (MSA-C) with predominant olivopontocerebellar atrophy. A 'definite' diagnosis requires pathological confirmation with demonstration of glial cytoplasmic inclusions comprising alpha-synuclein protein aggregates (1)...
February 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28167472/mri-and-clinical-manifestations-of-delayed-encephalopathy-after-carbon-monoxide-poisoning
#8
Xiahong Wang, Zhenyu Li, Jacqueline Berglass, Wenlong He, Jianmin Zhao, Min Zhang, Chongyang Gao, Caixia Zhang, Huimin Zhang, Xuewei Yi
To explore the relationship between the clinical manifestations and functional magnetic resonance images of delayed encephalopathy after carbon monoxide intoxication. Six patients received the MRI were diagnosed with delayed encephalopathy after carbon monoxide (CO) poisoning. Clinical manifestations were observed in each patient. MRI revealed multiple lesions. The majority of the lesions were located in the globus pallidus, sub cortical white matter, and basal ganglia. The cognitive injury, akinetic mutism, fecal and uroclepsia, forced crying, forced laughing and extra pyramidal syndromes such as chorea and parkinsonism were manifested in clinic...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28164143/a-predictive-model-for-prognosis-in-motor-neuron-disease
#9
Mirian Conceicao Moura, Luiz Augusto Casulari, Maria Rita Carvalho Garbi Novaes
OBJECTIVES: There have been attempts to establish biomarkers for motor neuron disease, without success. The study aim to seek possible markers to be used in the clinical routine evaluation, to optimize timing for palliative interventions. METHODS: A cohort study evaluated clinical, respiratory and neurophysiological variables every 3-4 months across 20 months in 101 patients with motor neuron disease using riluzole. Primary endpoint was death or tracheostomy. The most significant parameters in cox regression analysis created a predictive model...
December 2016: Journal of Neurological Disorders
https://www.readbyqxmd.com/read/28140306/-retrospective-study-of-48-cases-of-primary-central-nervous-system-lymphoma
#10
Lucas Alessandro, José M Pastor Rueda, Juan F Villalonga, Verónica A Bruno, Federico Carpani, Juan B Blaquier, Sofía Tognarelli, Francisco J Varela, Alejandro Muggeri
Primary central nervous system lymphoma (PCNSL) is an infrequent form of non-Hodgkin lymphoma restricted to the CNS. More than 90% are type B and mainly affect patients aged 50-70 years. Immunodeficiency is the most important risk factor. The aim of our study was to evaluate the immune status, clinical presentation and findings in complementary studies of PCNSL patients. A retrospective analysis of 48 cases treated in our center between January 1992 and May 2015 was performed. Median age at diagnosis was 61 years (range 25-84); with male predominance (2...
2017: Medicina
https://www.readbyqxmd.com/read/28102468/mutation-of-the-herc-1-ubiquitin-ligase-impairs-associative-learning-in-the-lateral-amygdala
#11
Eva Mª Pérez-Villegas, José V Negrete-Díaz, Mª Elena Porras-García, Rocío Ruiz, Angel M Carrión, Antonio Rodríguez-Moreno, José A Armengol
Tambaleante (tbl/tbl) is a mutant mouse that carries a spontaneous Gly483Glu substitution in the HERC1 (HECT domain and RCC1 domain) E3 ubiquitin ligase protein (HERC1). The tbl/tbl mutant suffers an ataxic syndrome given the almost complete loss of cerebellar Purkinje cells during adult life. More recent analyses have identified alterations at neuromuscular junctions in these mice, as well as in other neurons of the central nervous system, such as motor neurons in the spinal cord, or pyramidal neurons in the hippocampal CA3 region and the neocortex...
January 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28099355/hereditary-spastic-paraplegia-due-to-a-novel-mutation-of-the-reep1-gene-case-report-and-literature-review
#12
REVIEW
Sébastien Richard, Julie Lavie, Guillaume Banneau, Nathalie Voirand, Karine Lavandier, Marc Debouverie
RATIONALE: Hereditary spastic paraplegia (HSP) is a heterogeneous group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis. This results in an underestimation of HSP leading to belated diagnosis and management. In depth diagnosis is based on clinical presentation and identification of genomic mutations. We describe the clinical presentation and pathogeny of HSP through a report of a case due to a novel mutation of the REEP1 gene (SPG31)...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#13
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28088913/a-comparative-study-of-short-term-efficacy-of-aripiprazole-and-risperidone-in-schizophrenia
#14
P B Sajeev Kumar, Ravi S Pandey, Jagadisha Thirthali, P T Siva Kumar, C Naveen Kumar
Objective To compare the short term anti-schizophrenic efficacy and side effect profile of aripiprazole with risperidone. Methodology The study was a non-randomized, naturalistic, rater blinded, prospective, 8-12 weeks, comparative trial between risperidone and aripiprazole in patients with schizophrenia. Patients already getting treatment with aripiprazole (10 to 30 mg/day) or risperidone (3 to 8mg/day) are recruited. Mini International Neuropsychiatric Interview (MINI) Plus, Positive and Negative Syndrome Scale (PANSS), Abnormal Involuntary Movement Scale (AIMS), Simpson Angus Scale (SAS), Udvalg for Klinske Undersogelser (UKU) Scale, Clinical Global Impression-severity scales were administered by principal investigator on the day of recruitment...
January 12, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28077511/altered-connectivity-and-synapse-maturation-of-the-hippocampal-mossy-fiber-pathway-in-a-mouse-model-of-the-fragile-x-syndrome
#15
F Scharkowski, Michael Frotscher, David Lutz, Martin Korte, Kristin Michaelsen-Preusse
The Fragile X syndrome (FXS) as the most common monogenetic cause of cognitive impairment and autism indicates how tightly the dysregulation of synapse development is linked to cognitive deficits. Symptoms of FXS include excessive adherence to patterns that point to compromised hippocampal network formation. Surprisingly, one of the most complex hippocampal synapses connecting the dentate gyrus (DG) to CA3 pyramidal neurons has not been analyzed in FXS yet. Intriguingly, we found altered synaptic function between DG and CA3 in a mouse model of FXS (fmr1 knockout [KO]) demonstrated by increased mossy fiber-dependent miniature excitatory postsynaptic current (mEPSC) frequency at CA3 pyramidal neurons together with increased connectivity between granule cells and CA3 neurons...
January 10, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28042026/dexamethasone-prevents-motor-deficits-and-neurovascular-damage-produced-by-shiga-toxin-2-and-lipopolysaccharide-in-the-mouse-striatum
#16
Alipio Pinto, Adriana Cangelosi, Patricia A Geoghegan, Jorge Goldstein
Shiga toxin 2 (Stx2) from enterohemorrhagic Escherichia coli (EHEC) causes bloody diarrhea and Hemolytic Uremic Syndrome (HUS) that may derive to fatal neurological outcomes. Neurological abnormalities in the striatum are frequently observed in affected patients and in studies with animal models while motor disorders are usually associated with pyramidal and extra pyramidal systems. A translational murine model of encephalopathy was employed to demonstrate that systemic administration of a sublethal dose of Stx2 damaged the striatal microvasculature and astrocytes, increase the blood brain barrier permeability and caused neuronal degeneration...
March 6, 2017: Neuroscience
https://www.readbyqxmd.com/read/28039031/worsening-of-memory-deficit-induced-by-energy-dense-diet-in-a-rat-model-of-early-alzheimer-s-disease-is-associated-to-neurotoxic-a%C3%AE-species-and-independent-of-neuroinflammation
#17
Pamela V Martino Adami, Pablo Galeano, Marina L Wallinger, Celia Quijano, Alejandro Rabossi, Eleonora S Pagano, Natividad Olivar, Carlos Reyes Toso, Daniel Cardinali, Luis I Brusco, Sonia Do Carmo, Rafael Radi, Goar Gevorkian, Eduardo M Castaño, A Claudio Cuello, Laura Morelli
Diet is a modifiable risk factor for Alzheimer's disease (AD), but the mechanisms linking alterations in peripheral metabolism and cognition remain unclear. Since it is especially difficult to study long-term effects of high-energy diet in individuals at risk for AD, we addressed this question by using the McGill-R-Thy1-APP transgenic rat model (Tg(+/-)) that mimics presymptomatic AD. Wild-type and Tg(+/-) rats were exposed during 6months to a standard diet or a Western diet (WD), high in saturated fat and sugar...
March 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27994193/association-and-expression-analyses-of-the-ucp2-and-ucp3-gene-polymorphisms-with-body-measurement-and-meat-quality-traits-in-qinchuan-cattle
#18
Yaning Wang, Wucai Yang, Linsheng Gui, Hongbao Wang, Linsen Zan
The uncoupling proteins (UCPs) belong to the mitochondrial inner membrane anion carrier superfamily and play an important role in energy homeostasis. Genetic studies have demonstrated that Ucp2 and Ucp3 gene variants are involved in obesity and metabolic syndrome. The aim of this study was to identify associations between polymorphisms of Ucp2 and Ucp3 genes and economically-important traits in Qinchuan cattle. In the present study, one single-nucleotide polymorphism (SNP) in the 5'UTR region (SNP1:g.C-754G) of the Ucp2 gene was identified by direct sequencing of 441 Qinchuan cattle...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27988240/intraoperative-spinal-cord-monitoring-lesional-level-diagnosis
#19
M Gavaret, S Pesenti, M S Diop-Sene, E Choufani, G Bollini, J-L Jouve
BACKGROUND: In spinal deformity surgery, iatrogenic spinal cord injury is the most feared complication. Intraoperative monitoring (IOM) of the spinal cord assesses its functional integrity and allows significant reduction of the rate of spinal cord injury. HYPOTHESIS: In case of severe IOM alert, lesional level diagnosis constitutes supplementary and useful information. MATERIAL AND METHODS: This study was retrospective and monocentric. In our institution, 1062 pediatric spinal deformity surgeries have been monitored since 2004...
December 14, 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27965538/lack-of-cdkl5-disrupts-the-organization-of-excitatory-and-inhibitory-synapses-and-parvalbumin-interneurons-in-the-primary-visual-cortex
#20
Riccardo Pizzo, Antonia Gurgone, Enrico Castroflorio, Elena Amendola, Cornelius Gross, Marco Sassoè-Pognetto, Maurizio Giustetto
Cyclin-dependent kinase-like 5 (CDKL5) mutations are found in severe neurodevelopmental disorders, including the Hanefeld variant of Rett syndrome (RTT; CDKL5 disorder). CDKL5 loss-of-function murine models recapitulate pathological signs of the human disease, such as visual attention deficits and reduced visual acuity. Here we investigated the cellular and synaptic substrates of visual defects by studying the organization of the primary visual cortex (V1) of Cdkl5(-/y) mice. We found a severe reduction of c-Fos expression in V1 of Cdkl5(-/y) mutants, suggesting circuit hypoactivity...
2016: Frontiers in Cellular Neuroscience
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