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Cerebellar syndrome

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https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#1
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29769509/joubert-s-syndrome-a-report-of-two-cases
#2
M M Rahman, S M Rahman
Joubert's syndrome and related disorders are primarily disorder of cerebellar development. It has heterogeneity of presentation that varies from patient to patient. In the recent past we encountered a pair of children who presented with developmental delay, hypotonia and abnormal eye movements. Classic Joubert's syndrome was confirmed on the basis of clinical and neuro-imaging findings. So careful clinical assessment and appropriate neuro-imaging should be done in suspected cases for confirmation of diagnosis...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29764912/mitochondrial-pitrm1-peptidase-loss-of-function-in-childhood-cerebellar-atrophy
#3
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS: Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in patients' cells and in yeast. RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psychotic episodes...
May 15, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29764786/instability-in-patients-with-canvas-can-computerized-dynamic-posturography-help-in-diagnosis
#4
Alba Marina Milá de la Roca-Morales, Joan F Andreo-Marroig, Sofía Santos-Pérez, Andrés Soto-Varela
OBJECTIVE: To describe the pattern of dynamic posturography or its role in diagnosis in patients with cerebellar ataxia with neuropathy and vestibular arreflexia syndrome (CANVAS). MATERIALS AND METHODS: We present and describe posturographic data of four patients diagnosed with the CANVAS syndrome in a tertiary hospital. RESULTS: In all patients, the average balance score was diminished. Two patients presented a pattern of visual dependence...
April 2018: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/29760657/purkinje-cell-signaling-deficits-in-animal-models-of-ataxia
#5
REVIEW
Eriola Hoxha, Ilaria Balbo, Maria Concetta Miniaci, Filippo Tempia
Purkinje cell (PC) dysfunction or degeneration is the most frequent finding in animal models with ataxic symptoms. Mutations affecting intrinsic membrane properties can lead to ataxia by altering the firing rate of PCs or their firing pattern. However, the relationship between specific firing alterations and motor symptoms is not yet clear, and in some cases PC dysfunction precedes the onset of ataxic signs. Moreover, a great variety of ionic and synaptic mechanisms can affect PC signaling, resulting in different features of motor dysfunction...
2018: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/29753895/infected-intradural-dermoid-cyst-with-complete-dermal-sinus-of-posterior-fossa
#6
Félix K K Ségbédji, A J Tokpo, A A Nubukpo-Guménu, N K Alaoui, L M A Quenum, K Chakour, M F Chaoui, M Benzagmout
BACKGROUND: Intracranial dermoid cysts represent benign embryologic tumors. Children and young adults are most affected. Infected intradural dermoid cyst with complete dermal sinus of posterior fossa is exceptional. The main feature of this dermal sinus leads from the midline intradural cyst through an opening in the occipital bone to be attached to the skin. METHOD: We report two cases of infected intradural dermoid cyst with complete dermal sinus of posterior fossa in children, with special attention to the clinical, anatomical features of this rare combination...
May 10, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29749493/a-novel-pnpla6-compound-heterozygous-mutation-identified-in-a-chinese-patient-with-boucher%C3%A2-neuh%C3%A3-user-syndrome
#7
Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Yuanmei Wang, Jian-Ling Liu, Zhi-Ling Zhou, Xiao-Tao Zhou, Dan-Na Chen, Wei-Hua Liao, Jia-Da Li
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher‑Neuhäuser syndrome (BNS), which has been associated with autosomal‑recessive mutations in the patatin‑like phospholipase domain containing 6 (PNPLA6) gene. However, no BNS cases have been reported in mainland China. In the present study, to the best of the authors' knowledge, the first patient with BNS was identified in China. A 39‑year‑old male was first diagnosed with hypogonadotropic hypogonadism...
May 3, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29748705/hearing-loss-in-phace-syndrome-clinical-and-radiologic-findings
#8
Mark D Mamlouk, Bree Zimmerman, Erin F Mathes, Kristina W Rosbe
PURPOSE: To characterize the types of hearing loss, auditory-related imaging findings, and hemangioma characteristics in patients with Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects, and abnormalities of the Eye (PHACE) syndrome. METHODS: Retrospective medical records, audiologic data, and imaging review of all patients presenting to a tertiary care children's hospital with a proven diagnosis of PHACE syndrome from 2005 to 2016. RESULTS: Twelve patients were identified with hearing and imaging data...
May 10, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29748058/unusual-aspect-of-posterior-reversible-encephalopathy-syndrome-in-an-elderly-adult
#9
Benjamin Hebant, Omar Bennani
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) classically occurs in patients presenting with a sudden increase of arterial pressure or eclampsia, but the range of etiologies is very wide. Although the mechanisms underlying PRES remain unclear, research suggests that when the extent of hypertension exceeds the threshold of cerebral blood flow autoregulation, this induces blood-brain barrier disruption that leads to brain edema. Unusual presentations on magnetic resonance imaging (MRI) are possible, including the involvement of frontal or temporal lobes, cerebellar hemispheres, basal ganglia, brainstem, or deep white matter...
May 7, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29741225/prediction-of-vascular-abnormalities-on-ct-angiography-in-patients-with-acute-headache
#10
Imanda M E Alons, Ben F J Goudsmit, Korné Jellema, Marianne A A van Walderveen, Marieke J H Wermer, Ale Algra
OBJECTIVES: Patients with acute headache increasingly undergo CT-angiography (CTA) to evaluate underlying vascular causes. The aim of this study is to determine clinical and non-contrast CT (NCCT) criteria to select patients who might benefit from CTA. METHODS: We retrospectively included patients with acute headache who presented to the emergency department of an academic medical center and large regional teaching hospital and underwent NCCT and CTA. We identified factors that increased the probability of finding a vascular abnormality on CTA, performed multivariable regression analyses and determined discrimination with the c-statistic...
May 9, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29740431/omics-based-approach-reveals-complement-mediated-inflammation-in-chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-clippers
#11
Morten Blaabjerg, Anne Louise Hemdrup, Lylia Drici, Klemens Ruprecht, Peter Garred, Romana Höftberger, Bjarne W Kristensen, Daniel Kondziella, Tobias Sejbaek, Soren W Hansen, Helle H Nielsen, Pia Jensen, Morten Meyer, Friedemann Paul, Hans Lassmann, Martin R Larsen, Zsolt Illes
Objective: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare syndrome with relapsing brainstem/cerebellar symptoms. To examine the pathogenic processes and investigate potential biomarkers, we analyzed combined materials of brain and cerebrospinal fluid (CSF) by comprehensive methodologies. Materials and methods: To identify major pathways of perivascular inflammation in CLIPPERS, we first compared the CSF proteome ( n  = 5) to a neurodegenerative condition, Alzheimer's disease (AD, n  = 5)...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29740388/central-lesions-with-selective-semicircular-canal-involvement-mimicking-bilateral-vestibulopathy
#12
REVIEW
Luke Chen, G Michael Halmagyi
Bilateral vestibulopathy (BVP), which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC). Recent eye movement recordings with search coil and video head impulse test (HIT) have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC) impairment while leaving vertical SCC function unaffected...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29736421/exquisite-response-to-intravenous-immunoglobulin-in-susac-syndrome-during-pregnancy
#13
Enrique Gomez-Figueroa, Sofia Garcia-Trejo, Raul Anwar Garcia-Santos, Gerardo Quiñones-Pesqueira, Juan Manuel Calleja-Castillo
Introduction: From its initial report on two female patients in 1979 by J.O. Susac, Susac syndrome (SuS) or SICRET (small infarctions of cochlear, retinal and encephalic tissue) has persisted as an elusive entity. To date the available evidence for its treatment is based on case reports and case series. The largest systematic review described only 304 reported cases since the 1970s. Here we presented the first reported case to our knowledge in Mexican population and the unusual presentation in a pregnant patient...
March 2018: ENeurologicalSci
https://www.readbyqxmd.com/read/29727687/variants-in-exosc9-disrupt-the-rna-exosome-and-result-in-cerebellar-atrophy-with-spinal-motor-neuronopathy
#14
David T Burns, Sandra Donkervoort, Juliane S Müller, Ellen Knierim, Diana Bharucha-Goebel, Eissa Ali Faqeih, Stephanie K Bell, Abdullah Y AlFaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Scavina, Laura Baker, Tara C Massini, Monkol Lek, Ying Hu, Daniel Ezzo, Fowzan S AlKuraya, Peter B Kang, Helen Griffin, A Reghan Foley, Markus Schuelke, Rita Horvath, Carsten G Bönnemann
The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination. Here, we report on four unrelated affected individuals with recessive variants in EXOSC9 and the effect of the variants on the function of the RNA exosome in vitro in affected individuals' fibroblasts and skeletal muscle and in vivo in zebrafish...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29718201/perk-inhibition-delays-neurodegeneration-and-improves-motor-function-in-a-mouse-model-of-marinesco-sj%C3%A3-gren-syndrome
#15
Valentina Grande, Francesca Ornaghi, Liliana Comerio, Elena Restelli, Antonio Masone, Alessandro Corbelli, Daniele Tolomeo, Vanessa Capone, Jeffrey M Axten, Nicholas J Laping, Fabio Fiordaliso, Michele Sallese, Roberto Chiesa
Marinesco-Sjögren syndrome (MSS) is a rare, early-onset, autosomal recessive multisystem disorder characterized by cerebellar ataxia, cataracts and myopathy. Most MSS cases are caused by loss-of-function mutations in the gene encoding SIL1, a nucleotide exchange factor for the molecular chaperone BiP which is essential for correct protein folding in the endoplasmic reticulum. Woozy mice carrying a spontaneous Sil1 mutation recapitulate key pathological features of MSS, including cerebellar atrophy with degeneration of Purkinje cells, and progressive myopathy...
April 28, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29713360/intestinal-duplication-revealed-by-posterior-reversible-encephalopathy-syndrome
#16
Yosra Kerkeni, Hela Louati, Mourad Hamzaoui
We report a unique case of intestinal duplication detected on posterior reversible encephalopathy syndrome (PRES) in a 13-year-old girl. She was admitted to the pediatric Emergency Department because of generalized seizures. Radiological assessment revealed a large, well-defined, thick-walled cystic lesion in the mid abdomen, suggestive of duplication cyst associated to a PRES. Exploration confirmed the diagnosis of ileal duplication cyst, and the mass was resected. The postoperative course was uneventful. Both hypertension and neurological dysfunction resolved after the mass resection...
April 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29704274/saccadic-oscillations-in-4-dogs-and-1-cat
#17
Edward J Ives, Edward MacKillop, Natasha J Olby
Disorders affecting the control of saccadic eye movements result in involuntary saccadic oscillations and are widely reported in human medicine. Information regarding the occurrence and potential importance of saccadic oscillations in veterinary medicine is currently limited. The clinical histories of three dogs and one cat displaying involuntary eye movements consistent with opsoclonus are presented, with final diagnoses including idiopathic generalized tremor syndrome and neuronal ceroid lipofuscinosis (NCL)...
April 27, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29697083/paraneoplastic-syndrome-associate-with-solitary-fibrous-tumor-of-pleura
#18
Apurwa Karki, John Yang, Sudheer Chauhan
Solitary fibrous tumor (SFT) is a rare mesenchymal tumor and several paraneoplastic syndromes have been related to it. We report the case of a 60-year-old male initially admitted to rule out cerebral vascular accident with the final diagnosis of SFT associated with paraneoplastic cerebellar degeneration and hypoglycemia. The diagnosis was confirmed by computed tomography-guided lung biopsy.
May 2018: Lung India: Official Organ of Indian Chest Society
https://www.readbyqxmd.com/read/29696497/cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-with-chronic-cough-and-preserved-muscle-stretch-reflexes-evidence-for-selective-sparing-of-afferent-ia-fibres
#19
Jon Infante, Antonio García, Karla M Serrano-Cárdenas, Rocío González-Aguado, José Gazulla, Enrique M de Lucas, José Berciano
The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patients were in the seventh decade of age, their gait imbalance having been initiated in the fifth decade. In four patients cough antedated gait imbalance between 15 and 29 years; cough was spasmodic and triggered by variable factors. Established clinical picture included severe hypopallesthesia predominating in the lower limbs with postural imbalance, and variable degree of cerebellar axial and appendicular ataxia, dysarthria and horizontal gaze-evoked nystagmus...
April 25, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29691940/novel-cask-mutations-in-cases-with-syndromic-microcephaly
#20
Francesca Cristofoli, Koen Devriendt, Erica E Davis, Hilde Van Esch, Joris R Vermeesch
Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of genetic information and population-based data remains a challenge. Using whole exome sequencing, we identified four novel CASK mutations in individuals with syndromic MC. To understand the functional consequences of the different point mutations on the development of MC and cerebellar defects we established a transient loss of function zebrafish model, and demonstrate recapitulation of relevant neuroanatomical phenotypes...
April 24, 2018: Human Mutation
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