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https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#1
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28547652/histone-h3-k27m-mutations-in-adult-cerebellar-high-grade-gliomas
#2
Satoshi Nakata, Sumihito Nobusawa, Tatsuya Yamazaki, Tadashi Osawa, Keishi Horiguchi, Yasuhiro Hashiba, Hiroyuki Yaoita, Nozomi Matsumura, Hayato Ikota, Junko Hirato, Yuhei Yoshimoto, Hideaki Yokoo
Adult cerebellar high-grade gliomas (HGG) are rare and their molecular basis has not been fully elucidated. Although a diffuse midline glioma H3 K27M-mutant, a recently characterized variant of HGG, was reported to occasionally occur in the cerebellum, adult cases were rarely tested for this mutation; only five mutant cases have been reported to date. It currently remains unknown whether H3 K27M-mutant cerebellar gliomas share common histological features or have a uniformly dismal prognosis. In the present study, we assessed the prevalence of histone H3 K27M mutations in ten adult cerebellar HGG, identifying two H3F3A-mutant cases...
May 25, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28547531/neonatal-hyperoxia-perturbs-neuronal-development-in-the-cerebellum
#3
Till Scheuer, Yuliya Sharkovska, Victor Tarabykin, Katharina Marggraf, Vivien Brockmöller, Christoph Bührer, Stefanie Endesfelder, Thomas Schmitz
Impaired postnatal brain development of preterm infants often results in neurological deficits. Besides pathologies of the forebrain, maldeveolopment of the cerebellum is increasingly recognized to contribute to psychomotor impairments of many former preterm infants. However, causes are poorly defined. We used a hyperoxia model to define neonatal damage in cerebellar granule cell precursors (GCPs) and in Purkinje cells (PCs) known to be essential for interaction with GCPs during development. We exposed newborn rats to 24 h 80% O2 from age P6 to P7 to identify postnatal and long-term damage in cerebellar GCPs at age P7 after hyperoxia and also after recovery in room air thereafter until P11 and P30...
May 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28547032/car8-dorsal-root-ganglion-expression-and-genetic-regulation-of-analgesic-responses-are-associated-with-a-cis-eqtl-in-mice
#4
Roy C Levitt, Gerald Y Zhuang, Yuan Kang, Diana M Erasso, Udita Upadhyay, Mehtap Ozdemir, Eugene S Fu, Konstantinos D Sarantopoulos, Shad B Smith, William Maixner, Luda Diatchenko, Eden R Martin, Tim Wiltshire
Carbonic anhydrase-8 (Car8 mouse gene symbol) is devoid of enzymatic activity, but instead functions as an allosteric inhibitor of inositol trisphosphate receptor-1 (ITPR1) to regulate this intracellular calcium release channel important in synaptic functions and neuronal excitability. Causative mutations in ITPR1 and carbonic anhydrase-8 in mice and humans are associated with certain subtypes of spinal cerebellar ataxia (SCA). SCA mice are genetically deficient in dorsal root ganglia (DRG) Car8 expression and display mechanical and thermal hypersensitivity and susceptibility to subacute and chronic inflammatory pain behaviors...
May 25, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28546307/the-right-lateral-cerebellum-represents-linguistic-predictability
#5
Elise Lesage, Peter C Hansen, R Chris Miall
Mounting evidence indicates that posterolateral portions of the cerebellum (right Crus I/II) contribute to language processing, but the nature of this role remains unclear. Based on a well-supported theory of cerebellar motor function, which ascribes to the cerebellum a role in short-term prediction through internal modeling, we hypothesize that right cerebellar Crus I/II supports prediction of upcoming sentence content.We tested this hypothesis using event-related fMRI in human subjects by manipulating the predictability of written sentences...
May 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28545932/the-association-between-tau-pet-and-retrospective-cortical-thinning-in-clinically-normal-elderly
#6
Molly R LaPoint, Jasmeer P Chhatwal, Jorge Sepulcre, Keith A Johnson, Reisa A Sperling, Aaron P Schultz
Tau pathology has been associated with neuronal loss at autopsy, but the temporal evolution of tau pathology and atrophy remains unclear. Here, we investigate the association between cross-sectional AV-1451-PET as a marker of tau pathology and cortical thickness cross-sectionally. We also investigated retrospective rates of cortical thinning over the three years preceding the AV-1451 scan in a clinically normal cohort of 103 older adults from the Harvard Aging Brain Study. Tau measurements were Geometric Transfer Matrix partial volume corrected standardized uptake value ratios (SUVRs) with a cerebellar grey reference region...
May 22, 2017: NeuroImage
https://www.readbyqxmd.com/read/28545543/inhibition-of-colony-stimulating-factor-1-receptor-early-in-disease-ameliorates-motor-deficits-in-sca1-mice
#7
Wenhui Qu, Andrea Johnson, Joo Hyun Kim, Abigail Lukowicz, Daniel Svedberg, Marija Cvetanovic
BACKGROUND: Polyglutamine (polyQ) expansion in the protein Ataxin-1 (ATXN1) causes spinocerebellar ataxia type 1 (SCA1), a fatal dominantly inherited neurodegenerative disease characterized by motor deficits, cerebellar neurodegeneration, and gliosis. Currently, there are no treatments available to delay or ameliorate SCA1. We have examined the effect of depleting microglia during the early stage of disease by using PLX, an inhibitor of colony-stimulating factor 1 receptor (CSFR1), on disease severity in a mouse model of SCA1...
May 25, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28545339/increased-survival-and-partly-preserved-cognition-in-a-patient-with-aco2-related-disease-secondary-to-a-novel-variant
#8
Siddharth Srivastava, Cynthia S Gubbels, Kira Dies, Anne Fulton, Timothy Yu, Mustafa Sahin
ACO2 encodes aconitase 2, catalyzing the second step of the tricarboxylic acid. To date, there are only 6 reported families with 5 unique ACO2 mutations. Affected individuals can develop intellectual disability, epilepsy, brain atrophy, hypotonia, ataxia, optic atrophy, and retinal degeneration. Here, we report an 18-year-old boy with a novel ACO2 variant discovered on whole-exome sequencing. He presented with childhood-onset ataxia, impaired self-help skills comparable to severe-profound intellectual disability, intractable epilepsy, cerebellar atrophy, peripheral neuropathy, optic atrophy, and pigmentary retinopathy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28544952/influence-of-both-cutaneous-input-from-the-foot-soles-and-visual-information-on-the-control-of-postural-stability-in-dyslexic-children
#9
Nathalie Goulème, Philippe Villeneuve, Christophe-Loïc Gérard, Maria Pia Bucci
Dyslexic children show impaired in postural stability. The aim of our study was to test the influence of foot soles and visual information on the postural control of dyslexic children, compared to non-dyslexic children. Postural stability was evaluated with TechnoConcept(®) platform in twenty-four dyslexic children (mean age: 9.3±0.29years) and in twenty-four non-dyslexic children, gender- and age-matched, in two postural conditions (with and without foam: a 4-mm foam was put under their feet or not) and in two visual conditions (eyes open and eyes closed)...
May 4, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28544275/recessive-mutations-in-msto1-cause-mitochondrial-dynamics-impairment-leading-to-myopathy-and-ataxia
#10
Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28543952/structural-signature-of-classical-versus-late-onset-friedreich-s-ataxia-by-multimodality-brain-mri
#11
Thiago Junqueira R Rezende, Alberto Rolim M Martinez, Ingrid Faber, Karen Girotto, José Luiz Pedroso, Orlando G Barsottini, Iscia Lopes-Cendes, Fernando Cendes, Andreia V Faria, Marcondes C França
INTRODUCTION: Friedreich's ataxia (FRDA) is the most common autosomal-recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities, and slowly progressive ataxia. However, some individuals manifest the disease after the age of 25 years and are classified as late-onset FRDA (LOFA). Therefore, we propose a transversal multimodal MRI-based study to investigate which anatomical substrates are involved in classical (cFRDA) and LOFA. METHODS: We enrolled 36 patients (13 with LOFA) and 29 healthy controls...
May 23, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28542923/the-polysialic-acid-mimetics-idarubicin-and-irinotecan-stimulate-neuronal-survival-and-neurite-outgrowth-and-signal-via-protein-kinase-c
#12
Gabriele Loers, Steven Astafiev, Yuliya Hapiak, Vedangana Saini, Bibhudatta Mishra, Sheraz Gul, Gurcharan Kaur, Melitta Schachner, Thomas Theis
Polysialic acid (PSA) is a large, negatively charged, linear homopolymer of alpha2-8-linked sialic acid residues. It is generated by two polysialyltransferases and attached to N- and/or O-linked glycans, and its main carrier is the neural cell adhesion molecule NCAM. PSA controls the development and regeneration of the nervous system by enhancing cell migration, axon pathfinding, synaptic targeting, synaptic plasticity, by regulating the differentiation of progenitor cells and by modulating cell-cell and cell-matrix adhesions...
May 24, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28542916/spatial-rearrangement-of-purkinje-cell-subsets-forms-the-transverse-and-longitudinal-compartmentalization-in-the-mouse-embryonic-cerebellum
#13
Suteera Vibulyaseck, Hirofumi Fujita, Yuanjun Luo, Anh Khoa Tran, Arata Oh-Nishi, Yuichi Ono, Shinji Hirano, Izumi Sugihara
Transversely-oriented lobules and longitudinally-arrayed stripes of Purkinje cell subsets subdivide the cerebellar cortex into multiple compartments that are involved in diverse functions. In the mammalian cerebellum, anterior and posterior lobules, which are involved in somatosensorimotor function, show an alternation of aldolase C (zebrin II) -positive and -negative stripes, whereas the central lobules (lobules VIb-VII and crus I), which are implicated in non-motor functions, show a laterally-expanded arrangement solely of aldolase C-positive stripes...
May 24, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28542722/a-homozygous-potentially-pathogenic-variant-in-the-paxbp1-gene-in-a-large-family-with-global-developmental-delay-and-myopathic-hypotonia
#14
Essa Alharby, Alia M Albalawi, Abdul Nasir, Sabri A Alhijji, Amer Mahmood, Khushnooda Ramzan, Firoz Abdusamad, Abdulkarim Aljohani, Osama Abdelsalam, Amr Eldardear, Sulman Basit
PAX binding protein 1 (PAXBP1) is an adaptor protein linking the transcription factor PAX3 and PAX7 to the histone methylation machinery. PAXBP1 is a nuclear protein and its high expression is known in brain cerebellar hemisphere and cerebellum. Moreover, it is also found in abundance in muscle precursor cells that are involved in myogenesis and skeletal muscles formation. Whole genome SNP genotyping and exome sequencing in a family with distinct syndrome of global developmental delay and hypotonia mapped the disease locus to the chromosome 21q22...
May 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542524/ectopically-expressed-slc34a2a-sense-antisense-transcripts-cause-a-cerebellar-phenotype-in-zebrafish-embryos-depending-on-rna-complementarity-and-dicer
#15
Monica J Piatek, Victoria Henderson, Amy Fearn, Bill Chaudhry, Andreas Werner
Natural antisense transcripts (NATs) are complementary to protein coding genes and potentially regulate their expression. Despite widespread occurrence of NATs in the genomes of higher eukaryotes, their biological role and mechanism of action is poorly understood. Zebrafish embryos offer a unique model system to study sense-antisense transcript interplay at whole organism level. Here, we investigate putative antisense transcript-mediated mechanisms by ectopically co-expressing the complementary transcripts during early zebrafish development...
2017: PloS One
https://www.readbyqxmd.com/read/28542383/performance-in-eyeblink-conditioning-is-age-and-sex-dependent
#16
Karolina Löwgren, Rasmus Bååth, Anders Rasmussen, Henk-Jan Boele, Sebastiaan K E Koekkoek, Chris I De Zeeuw, Germund Hesslow
A growing body of evidence suggests that the cerebellum is involved in both cognition and language. Abnormal cerebellar development may contribute to neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD), autism, fetal alcohol syndrome, dyslexia, and specific language impairment. Performance in eyeblink conditioning, which depends on the cerebellum, can potentially be used to clarify the neural mechanisms underlying the cerebellar dysfunction in disorders like these. However, we must first understand how the performance develops in children who do not have a disorder...
2017: PloS One
https://www.readbyqxmd.com/read/28542277/first-report-of-a-japanese-family-with-spinocerebellar-ataxia-type-10-the-second-report-from-asia-after-a-report-from-china
#17
Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment...
2017: PloS One
https://www.readbyqxmd.com/read/28541889/distinct-responses-of-purkinje-neurons-and-roles-of-simple-spikes-during-associative-motor-learning-in-larval-zebrafish
#18
Thomas C Harmon, Uri Magaram, David L McLean, Indira M Raman
To study cerebellar activity during learning, we made whole-cell recordings from larval zebrafish Purkinje cells while monitoring fictive swimming during associative conditioning. Fish learned to swim in response to visual stimulation preceding tactile stimulation of the tail. Learning was abolished by cerebellar ablation. All Purkinje cells showed task-related activity. Based on how many complex spikes emerged during learned swimming, they were classified as multiple, single, or zero complex spike (MCS, SCS, ZCS) cells...
May 25, 2017: ELife
https://www.readbyqxmd.com/read/28540835/influence-of-temperature-on-cerebellar-metabolite-levels
#19
Zhicheng Yang, Jun Li
OBJECTIVE: The cerebellum is extremely sensitive to heat-induced injury because of the abundance of Purkinje cells. This study explored the influence of temperature on cerebellar metabolite levels by magnetic resonance spectroscopy (MRS). MATERIALS AND METHODS: Ten healthy volunteers were recruited to undergo a MRS examination in the summer and winter. Twenty-four ordinary patients with fever underwent the same examination during fever and after recovery. All MR spectras were recorded from the cerebellum...
May 23, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/28540665/different-molecular-mechanisms-mediate-direct-or-glia-dependent-prion-protein-fragment-90-231-neurotoxic-effects-in-cerebellar-granule-neurons
#20
Stefano Thellung, Elena Gatta, Francesca Pellistri, Valentina Villa, Alessandro Corsaro, Mario Nizzari, Mauro Robello, Tullio Florio
Glia over-stimulation associates with amyloid deposition contributing to the progression of central nervous system neurodegenerative disorders. Here we analyze the molecular mechanisms mediating microglia-dependent neurotoxicity induced by prion protein (PrP)90-231, an amyloidogenic polypeptide corresponding to the protease-resistant portion of the pathological prion protein scrapie (PrP(Sc)). PrP90-231 neurotoxicity is enhanced by the presence of microglia within neuronal culture, and associated to a rapid neuronal [Ca(++)] i increase...
May 25, 2017: Neurotoxicity Research
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