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https://www.readbyqxmd.com/read/29141275/roles-of-the-declive-folium-and-tuber-cerebellar-vermian-lobules-in-sportspeople
#1
In Sung Park, Nam Joon Lee, Im Joo Rhyu
The cerebellum plays vital roles in balance control and motor learning, including in saccadic adaptation and coordination. It consists of the vermis and two hemispheres and is anatomically separated into ten lobules that are designated as I-X. Although neuroimaging and clinical studies suggest that functions are compartmentalized within the cerebellum, the function of each cerebellar lobule is not fully understood. Electrophysiological and lesion studies in animals as well as neuroimaging and lesion studies in humans have revealed that vermian lobules VI and VII (declive, folium, and tuber) are critical for controlling postural balance, saccadic eye movements, and coordination...
September 28, 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29123519/two-distinct-myeloid-subsets-at-the-term-human-fetal-maternal-interface
#2
Maria Laura Costa, Michelle L Robinette, Mattia Bugatti, Mark S Longtine, Bryanne N Colvin, Erica Lantelme, William Vermi, Marco Colonna, D Michael Nelson, Marina Cella
During pregnancy, immune cells infiltrate the placenta at different stages of fetal development. NK cells and macrophages are the most predominant cell types. These immune cells play pleiotropic roles, as they control spiral artery remodeling to ensure appropriate blood supply and maintain long-term tolerance to a true allograft; yet, they must be able to mount appropriate immune defenses to pathogens that may threaten the fetus. Whether the same cell type accomplishes all these tasks or if there are dedicated subsets remains controversial...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29106825/recurrent-de-novo-mutations-disturbing-the-gtp-gdp-binding-pocket-of-rab11b-cause-intellectual-disability-and-a-distinctive-brain-phenotype
#3
Ideke J C Lamers, Margot R F Reijnders, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B A de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J F Letteboer, Sylvia E C van Beersum, Simone Dusseljee, Han G Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman
The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change induced by GTP-binding, allowing interactions with downstream effectors. Here, we report five individuals with two recurrent de novo missense mutations in RAB11B; c.64G>A; p.Val22Met in three individuals and c.202G>A; p.Ala68Thr in two individuals. An overlapping neurodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals...
October 23, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29105572/mild-adverse-childhood-experiences-increase-neural-efficacy-during-affective-theory-of-mind
#4
Benedetta Vai, Martina Riberto, Davide Ghiglino, Irene Bollettini, Andrea Falini, Francesco Benedetti, Sara Poletti
Adverse childhood experiences (ACEs) affect the development of social cognition (and identify a risk factor for several physical and mental disorders). Theory of Mind (ToM) is a key predictor of social functioning, mental health, and quality of life. No previous study explored the effect of mild ACEs on the neural correlates of ToM in healthy humans. In 23 healthy participants, we used brain blood oxygen level-dependent fMRI to study the effect of ACEs on the neural responses to tasks targeting affective and cognitive ToM...
November 5, 2017: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/29104177/olfactory-stimulation-induces-cerebellar-vermis-activation-during-sexual-learning-in-male-rats
#5
Zuleyma Samaria Hernández-Briones, Paulina García-Bañuelos, María Elena Hernández, María-Leonor López, Armando Martínez Chacón, Porfirio Carrillo, Genaro Coria-Avila, Jorge Manzo, Luis Isauro García
The cerebellum is a complex structure mainly recognized for its participation in motor activity and balance, and less understood for its role in olfactory processing. Herein, we assessed Fos immunoreactivity (Fos-IR) in the cerebellar vermis following exposure to different odors during sexual training in male rats. Males were allowed to copulate for either one, three or five sessions. One day after the corresponding session they were exposed during 60 min to woodshaving that was either: clean (Control), sprayed with almond scent (Alm) or from cages of sexually receptive females (RF)...
November 7, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29097243/intra-vermis-h4-receptor-agonist-impairs-performance-in-anxiety-and-fear-mediated-models
#6
C E M Fernandes, K R Serafim, A C L Gianlorenco, R Mattioli
The neural histaminergic system modulates cognitive performance in various animal models. However, little is known about the effects of the H4 histaminergic receptor in the central nervous system. The purpose of this study was to investigate the effect of histaminergic H4 agonist VUF-8430 microinjection into the cerebellar vermis on the consolidation of emotional memory in mice subjected to the elevated plus maze (EPM) and inhibitory avoidance task (IAT). All experiments were performed on two consecutive days: exposure (T1 and D1) and 24h after, which we called re-exposure (T2 and D2)...
October 31, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/29089158/cerebellar-ataxia-with-neuropathy-and-vestibular-areflexia-syndrome-canvas
#7
Masakatsu Taki, Takashi Nakamura, Hiraku Matsuura, Tatsuhisa Hasegawa, Hirofumi Sakaguchi, Kanako Morita, Ryotaro Ishii, Ikuko Mizuta, Takashi Kasai, Toshiki Mizuno, Shigeru Hirano
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a novel ataxic disorder consisting of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a somatosensory deficit. We report the first Japanese case of CANVAS. The patient is a 68-year-old Japanese male. He was referred to our university for further evaluation of progressive gait disturbance and ataxia. He exhibited horizontal gaze-evoked nystagmus and sensory deficit. Nerve conduction studies showed sensory neuronopathy...
October 28, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/29075558/the-medium-latency-muscle-response-to-a-vestibular-perturbation-is-increased-after-depression-of-the-cerebellar-vermis
#8
Chris K Lam, William R Staines, Craig D Tokuno, Leah R Bent
INTRODUCTION: Galvanic vestibular stimulation (GVS) is able to evoke distinct responses in the muscles used for balance. These reflexes, termed the short (SL) and medium latency (ML) responses, can be altered by sensory input; decreasing in size when additional sensory cues are available. Although much is known about these responses, the origin and role of the responses are still not fully understood. It has been suggested that the cerebellum, a structure that is involved in postural control and sensory integration, may play a role in the modulation of these reflexes...
October 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29062685/loss-of-inhibition-in-sensorimotor-networks-in-focal-hand-dystonia
#9
Cecile Gallea, Priyantha Herath, Valerie Voon, Alicja Lerner, John Ostuni, Ziad Saad, Shantalaxmi Thada, Jeffrey Solomon, Silvina G Horovitz, Mark Hallett
OBJECTIVE: To investigate GABA-ergic receptor density and associated brain functional and grey matter changes in focal hand dystonia (FHD). METHODS: 18 patients with FHD of the right hand and 18 age and gender matched healthy volunteers (HV) participated in this study. We measured the density of GABA-A receptors using [(11)C] Flumazenil and perfusion using [(15)O] H2O. Anatomical images were also used to measure grey matter volume with voxel-based morphometry (VBM)...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29052102/changes-in-cerebellar-functional-connectivity-and-autonomic-regulation-in-cancer-patients-treated-with-the-neuro-emotional-technique-for-traumatic-stress-symptoms
#10
Daniel A Monti, Anna Tobia, Marie Stoner, Nancy Wintering, Michael Matthews, Chris J Conklin, Feroze B Mohamed, Inna Chervoneva, Andrew B Newberg
PURPOSE: A growing number of research studies have implicated the cerebellum in emotional processing and regulation, especially with regard to negative emotional memories. However, there currently are no studies showing functional changes in the cerebellum as a result of treatment for traumatic stress symptoms. The Neuro Emotional Technique (NET) is an intervention designed to help improve symptoms related to traumatic stress using an integrative approach that combines emotional, cognitive, and motor processing, with a particular focus on autonomic nervous system regulation...
October 19, 2017: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/29046629/cerebellar-vermis-and-midbrain-hypoplasia-upon-conditional-deletion-of-chd7-from-the-embryonic-mid-hindbrain-region
#11
Alex P A Donovan, Tian Yu, Jacob Ellegood, Kimberley L H Riegman, Christa de Geus, Conny van Ravenswaaij-Arts, Cathy Fernandes, Jason P Lerch, M Albert Basson
Reduced fibroblast growth factor (FGF) signaling from the mid-hindbrain or isthmus organizer (IsO) during early embryonic development results in hypoplasia of the midbrain and cerebellar vermis. We previously reported evidence for reduced Fgf8 expression and FGF signaling in the mid-hindbrain region of embryos heterozygous for Chd7, the gene mutated in CHARGE (Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genitourinary anomalies and Ear defects) syndrome. However, Chd7(+/-) animals only exhibit mild cerebellar vermis anomalies...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29043563/malformation-of-the-posterior-cerebellar-vermis-is-a-common-neuroanatomical-phenotype-of-genetically-engineered-mice-on-the-c57bl-6-background
#12
Joshua A Cuoco, Anthony W Esposito, Shannon Moriarty, Ying Tang, Sonika Seth, Alyssa R Toia, Elias B Kampton, Yevgeniy Mayr, Mussarah Khan, Mohammad B Khan, Brian R Mullen, James B Ackman, Faez Siddiqi, John H Wolfe, Olga V Savinova, Raddy L Ramos
C57BL/6 mice exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the posterior vermis, indicative of neuronal migration defect during cerebellar development. Recognizing that many genetically engineered (GE) mouse lines are produced from C57BL/6 ES cells or backcrossed to this strain, we performed histological analyses and found that cerebellar heterotopia were a common feature present in the majority of GE lines on this background. Furthermore, we identify GE mouse lines that will be valuable in the study of cerebellar malformations including diverse driver, reporter, and optogenetic lines...
October 17, 2017: Cerebellum
https://www.readbyqxmd.com/read/29042004/quantitative-functional-mri-and-neurophysiological-markers-in-a-case-of-gerstmann-str%C3%A3-ussler-scheinker-syndrome
#13
Silvia Marino, Rosa Morabito, S De Salvo, L Bonanno, A Bramanti, P Pollicino, R Giorgianni, Placido Bramanti
Gerstmann-Sträussler-Scheinker syndrome (GSS) is an inherited autosomal dominant prion disease, caused by a codon 102 proline to leucine substitution (P102L) in the prion protein gene (PRNP). We describe the case of a 40-year-old male, affected by a slowly progressive gait disturbance, leg weakness and cognitive impairment. Genomic DNA revealed a point mutation of PRNP at codon 102, resulting in P102L, and the diagnosis of GSS was confirmed. Somatosensory evoked potentials showed alterations of principal parameters, particularly in the right upper and lower limbs...
July 2017: Functional Neurology
https://www.readbyqxmd.com/read/29039169/-prenatal-diagnosis-of-joubert-syndrome-one-case-report-and-literature-review
#14
Hong Wen, Lu Chen, Kai Yan, Jing He
A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed 'molar tooth sign' in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29037562/dandy-walker-syndrome-with-duplex-kidney-abnormalities-in-trisomy-18-a-rare-case-report
#15
Tun-Jun Wang, Yi-Ying Li, Wan-Ju Wu, Chi-Kang Lin, Chun-Kai Wang, Chen-Yu Wang, Kwei-Shuai Hwang, Her-Young Su
OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29027670/chiari-like-malformation-in-two-cats
#16
S Minato, M Baroni
Two male, neutered, domestic, shorthaired cats were evaluated for progressive paresis and ataxia. Neurological examinations suggested a spinal cord lesion in each case. Complete blood examination and cerebrospinal fluid analysis were unremarkable in both cats. MRI revealed malformation of the occipital bone with herniation of the cerebellar vermis through the foramen magnum but without syringomyelia. Chiari-like malformation was suspected in both patients. MRI repeated one year later in both cats because of progression of clinical signs yielded the same findings as the initial scans...
October 13, 2017: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/28965847/hypomorphic-recessive-variants-in-sufu-impair-the-sonic-hedgehog-pathway-and-cause-joubert-syndrome-with-cranio-facial-and-skeletal-defects
#17
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28951423/potential-contribution-of-tumor-associated-slan-cells-as-anti-csf-1r-targets-in-human-carcinoma
#18
Silvia Lonardi, Sara Licini, Alessandra Micheletti, Giulia Finotti, William Vermi, Marco A Cassatella
The precise identification of the types and respective roles of the tumor-associated myeloid cells, which include tumor-associated Mϕs (TAMs), neutrophils, dendritic cells, and myeloid-derived suppressor cells, is under intensive investigation. Although tumor-associated myeloid cells may contribute to tumor cell eradication by virtue of their effector functions, they are retained to fulfill predominantly protumorigenic roles. It follows that depletion of tumor-associated myeloid cells represents one of the currently pursued therapeutic options in advanced malignancies...
September 26, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28934619/distinct-brain-metabolic-patterns-separately-associated-with-cognition-motor-function-and-aging-in-parkinson-s-disease-dementia
#19
Ji Hyun Ko, Audrey Katako, Maram Aljuaid, Andrew L Goertzen, Andrew Borys, Douglas E Hobson, Seok Min Kim, Chong Sik Lee
We explored whether patients with Parkinson's disease dementia (PDD) show a distinct spatial metabolic pattern that characterizes cognitive deficits in addition to motor dysfunction. Eighteen patients with PDD underwent 3 separate positron emission tomography sessions with [(18)F]fluorodeoxyglucose (for glucose metabolism), fluorinated N-3-fluoropropyl-2-beta-carboxymethoxy-3-beta-(4-iodophenyl) nortropane (for dopamine transporter density) and Pittsburgh compound-B (for beta-amyloid load). We confirmed in PDD versus normal controls, overall hypometabolism in the posterior and prefrontal brain regions accompanied with hypermetabolism in subcortical structures and the cerebellar vermis...
December 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28931838/cerebellar-anatomical-alterations-and-attention-to-eyes-in-autism
#20
Charles Laidi, Jennifer Boisgontier, M Mallar Chakravarty, Sevan Hotier, Marc-Antoine d'Albis, Jean-Franc Ois Mangin, Gabriel A Devenyi, Richard Delorme, Federico Bolognani, Christian Czech, Céline Bouquet, Elie Toledano, Manuel Bouvard, Doriane Gras, Julie Petit, Marina Mishchenko, Alexandru Gaman, Isabelle Scheid, Marion Leboyer, Tiziana Zalla, Josselin Houenou
The cerebellum is implicated in social cognition and is likely to be involved in the pathophysiology of autism spectrum disorder (ASD). The goal of our study was to explore cerebellar morphology in adults with ASD and its relationship to eye contact, as measured by fixation time allocated on the eye region using an eye-tracking device. Two-hundred ninety-four subjects with ASD and controls were included in our study and underwent a structural magnetic resonance imaging scan. Global segmentation and cortical parcellation of the cerebellum were performed...
September 20, 2017: Scientific Reports
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