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Cerebellar dysfunction

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https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#1
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28634886/subcortical-brain-atrophy-in-gulf-war-illness
#2
Peka Christova, Lisa M James, Brian E Engdahl, Scott M Lewis, Adam F Carpenter, Apostolos P Georgopoulos
Gulf War Illness (GWI) is a multisystem disorder that has affected a substantial number of veterans who served in the 1990-1991 Gulf War. The brain is prominently affected, as manifested by the presence of neurological, cognitive and mood symptoms. Although brain dysfunction in GWI has been well documented (EBioMedicine 12:127-32, 2016), abnormalities in brain structure have been debated. Here we report a substantial (~10%) subcortical brain atrophy in GWI comprising mainly the brainstem, cerebellum and thalamus, and, to a lesser extent, basal ganglia, amygdala and diencephalon...
June 20, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28630251/valnoctamide-inhibits-cytomegalovirus-infection-in-developing-brain-and-attenuates-neurobehavioral-dysfunctions-and-brain-abnormalities
#3
Sara Ornaghi, Lawrence S Hsieh, Angélique Bordey, Patrizia Vergani, Michael J Paidas, Anthony N van den Pol
Cytomegalovirus (CMV) is the most common infectious cause of brain defects and neurological dysfunction in developing human babies. Due to the teratogenicity and toxicity of available CMV antivirals, treatment options during early development are markedly limited. Valnoctamide (VCD), a neuroactive mood stabilizer with no known teratogenic activity, was recently demonstrated to have anti-CMV potential. However, it is not known whether this can be translated into an efficacious therapeutic effect to improve CMV-induced adverse neurological outcomes...
June 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28626409/hiv-associated-cerebellar-dysfunction-and-improvement-with-aminopyridine-therapy-a-case-report
#4
Carolin Hoyer, Angelika Alonso, Beate Schlotter-Weigel, Michael Platten, Marc Fatar
Apart from infectious causes and cerebellar dysfunction associated with acquired immune deficiency syndrome dementia or HIV-associated neurocognitive disorder, cerebellar dysfunction in HIV-positive individuals has been ascribed to granule cell neuronopathy as well as primary cerebellar atrophy without identifiable etiology. We report the case of a patient with progressive cerebellar dysfunction as the primary manifestation of HIV infection. No symptom improvement was seen under combination antiretroviral therapy, which had been established upon diagnosis, but the patient improved rapidly under 4-aminopyridine treatment, which was recommended 1 year later...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28620085/a-sine-insertion-in-atp1b2-in-belgian-shepherd-dogs-affected-by-spongy-degeneration-with-cerebellar-ataxia-sdca2
#5
Nico Mauri, Miriam Kleiter, Elisabeth Dietschi, Michael Leschnik, Sandra Högler, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O'Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb
Spongy degeneration with cerebellar ataxia (SDCA) is a genetically heterogeneous neurodegenerative disorder with autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. Using a combined linkage and homozygosity mapping approach we identified a ~10.6 Mb critical interval on chromosome 5 in a Malinois family with four puppies affected by cerebellar dysfunction. Visual inspection of the 10.6 Mb interval in whole genome sequencing data from one affected puppy revealed a 227 bp SINE insertion into the ATP1B2 gene encoding the β2 subunit of the Na(+)/K(+)-ATPase holoenzyme (ATP1B2:c...
June 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28612953/eye-movements-sensori-motor-adaptation-and-cerebellar-dependent-learning-in-autism-towards-potential-biomarkers-and-sub-phenotypes
#6
Edward G Freedman, John J Foxe
Because of the wide range of symptoms expressed in individuals with Autism Spectrum Disorder (ASD) and their idiosyncratic severity it is unlikely that a single remedial approach will be universally effective. Resolution of this dilemma requires identifying subgroups within the autism spectrum, based on symptom set and severity, on an underlying neuro-structural difference, and on specific behavioral dysfunction. This will provide critical insight into the disorder and may lead to better diagnoses, and more targeted remediation in these subphenotypes of people with ASD...
June 14, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28606112/acute-cerebellitis-in-children-an-eleven-year-retrospective-multicentric-study-in-italy
#7
Laura Lancella, Susanna Esposito, Maria Luisa Galli, Elena Bozzola, Valeria Labalestra, Elena Boccuzzi, Andrzej Krzysztofiak, Laura Cursi, Guido Castelli Gattinara, Nadia Mirante, Danilo Buonsenso, Claudia Tagliabue, Luca Castellazzi, Carlotta Montagnani, Chiara Tersigni, Piero Valentini, Michele Capozza, Davide Pata, Maria Di Gangi, Piera Dones, Silvia Garazzino, Luca Baroero, Alberto Verrotti, Maria Luisa Melzi, Michele Sacco, Michele Germano, Filippo Greco, Elena Uga, Giovanni Crichiutti, Alberto Villani
BACKGROUND: Acute cerebellitis (AC) and acute cerebellar ataxia (ACA) are the principal causes of acute cerebellar dysfunction in childhood. Nevertheless. there is no accepted consensus regarding the best management of children with AC/ACA: the aim of the study is both to assess clinical, neuroimaging and electrophysiologic features of children with AC/ACA and to evaluate the correlation between clinical parameters, therapy and outcome. METHODS: A multicentric retrospective study was conducted on children ≤ 18 years old admitted to 12 Italian paediatric hospitals for AC/ACA from 01/01/2003 to 31/12/2013...
June 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28603856/a-case-for-motor-network-contributions-to-schizophrenia-symptoms-evidence-from-resting-state-connectivity
#8
Jessica A Bernard, James R M Goen, Ted Maldonado
Though schizophrenia (SCZ) is classically defined based on positive symptoms and the negative symptoms of the disease prove to be debilitating for many patients, motor deficits are often present as well. A growing literature highlights the importance of motor systems and networks in the disease, and it may be the case that dysfunction in motor networks relates to the pathophysiology and etiology of SCZ. To test this and build upon recent work in SCZ and in at-risk populations, we investigated cortical and cerebellar motor functional networks at rest in SCZ and controls using publically available data...
June 12, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28588446/purkinje-cell-degeneration-and-motor-coordination-deficits-in-a-new-mouse-model-of-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#9
Man Ding, Chao Weng, Shanghua Fan, Qian Cao, Zuneng Lu
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder. In 2007, a novel locus, SAX2, which is located on chromosome 17p13 and contains 3 genes, ankyrin repeat and FYVE domain-containing 1 (ANKFY1), β-arrestin 2 (ARRB2) and kinesin family member 1C (KIF1C), was linked to ARSACS. We generated Ankfy1 heterozygous (Ankfy1/+) mice to establish an animal model and examine the pathophysiological basis of ARSACS. The transgenic mice displayed an abnormal gait with progressive motor and cerebellar nerve dysfunction that was highly reminiscent of ARSACS...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28583742/visual-and-motor-deficits-in-grown-up-mice-with-congenital-zika-virus-infection
#10
Liyuan Cui, Peng Zou, Er Chen, Hao Yao, Hao Zheng, Qian Wang, Jing-Ning Zhu, Shibo Jiang, Lu Lu, Jiayi Zhang
Human infants with congenital Zika virus (ZIKV) infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual dysfunctions, which can be accounted by anatomical defects in the retina and cerebellar cortex. In contrary, anxiety level of the ZIKV-infected mice is normal...
April 24, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28579482/precuneus-degeneration-and-isolated-apathy-in-patients-with-parkinson-s-disease
#11
Jung Hwan Shin, Seong A Shin, Jee-Young Lee, Hyunwoo Nam, Jae-Sung Lim, Yu Kyeong Kim
INTRODUCTION: To investigate isolated apathy in a set of consecutively enrolled Parkinson's disease (PD) patients without dementia, depression, and significant motor response fluctuations, by conducting neuropsychological and neuroimaging analyses. METHODS: One hundred twenty-four patients were eligible for inclusion in this study. Clinical information and data were collected from a predefined neuropsychological test battery, including the mini-mental status examination, apathy scale, geriatric depression scale, digit span test, Boston naming test, Seoul verbal learning test, controlled oral word association test, go-no-go test, and the Rey figure copy test...
June 1, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28578781/differences-between-alcoholic-and-nonalcoholic-patients-with-wernicke-encephalopathy-a-multicenter-observational-study
#12
Antonio J Chamorro, Beatriz Rosón-Hernández, José-A Medina-García, Roberto Muga-Bustamante, Joaquín Fernández-Solá, M-Candelaria Martín-González, Elena Seco-Hernández, Ignacio Novo-Veleiro, Carlos Suárez-Cuervo, Ana M Mateos-Díaz, Rafael Monte-Secades, Begoña Machado-Prieto, Rubén Puerta-Louro, Cristina Prada-González, Álvaro Fernández-Rial, Patricia Sabio-Repiso, Rocío Vázquez-Vigo, Ana-C Antolí-Royo, Aina Gomila-Grange, Nieves-C Felipe-Pérez, Arantza Sanvisens-Bergé, Emilia Antúnez-Jorge, Camino-M Fernández-Rodríguez, Lucía Alvela-Suárez, Alba Fidalgo-Navarro, Miguel Marcos
OBJECTIVE: To analyze the differences in characteristics and prognosis between alcoholic and nonalcoholic patients with Wernicke encephalopathy (WE). PATIENTS AND METHODS: A retrospective observational cohort of 468 patients diagnosed with WE with at least 2 Caine criteria was selected from all patients discharged with a diagnosis of WE from 21 medical centers in Spain from January 1, 2000, through December 31, 2012. Demographic, clinical, and outcome variables were described...
June 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28570327/gastroenterology-and-neurology
#13
Ronald F Pfeiffer
PURPOSE OF REVIEW: Just as gastrointestinal dysfunction may develop in the setting of neurologic disease, neurologic dysfunction may become evident in the setting of gastrointestinal disease. This article describes the range of neurologic features that have been described in three primary gastrointestinal diseases: celiac disease and gluten-related disorders, inflammatory bowel disease, and Whipple disease. Particular emphasis is placed on the controversial and evolving clinical picture of neurologic dysfunction in disorders of gluten sensitivity...
June 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28568896/an-autopsied-case-of-mv2k%C3%A2-%C3%A2-c-type-sporadic-creutzfeldt-jakob-disease-presenting-with-widespread-cerebral-cortical-involvement-and-kuru-plaques
#14
Yasushi Iwasaki, Yufuko Saito, Ikuko Aiba, Atsushi Kobayashi, Maya Mimuro, Tetsuyuki Kitamoto, Mari Yoshida
MV2-type sporadic Creutzfeldt-Jakob disease (sCJD), which was previously called "Kuru-plaque variant", was gradually revealed to have a wide spectrum and has been classified into three pathological subtypes: MV2K, MV2C and MV2K + C. We herein describe the detailed clinical findings and neuropathologic observations from an autopsied MV2K + C-type Japanese sCJD case with widespread cerebral cortical pathology and Kuru plaques. In the early stages of the disease, the patient exhibited gait disturbance with ataxia and dysarthria as well as gradual appearance of cognitive dysfunction...
June 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28562425/rotational-and-collic-vestibular-evoked-myogenic-potential-testing-in-normal-developing-children-and-children-with-combined-attention-deficit-hyperactivity-disorder
#15
Younes Lotfi, Nima Rezazadeh, Abdollah Moossavi, Hojjat Allah Haghgoo, Reza Rostami, Enayatollah Bakhshi, Faride Badfar, Sedigheh Farokhi Moghadam, Vahid Sadeghi-Firoozabadi, Yousef Khodabandelou
OBJECTIVES: Vestibular dysfunction in childhood can have a major effect on a child's developmental process. Balance function has been reported to be poorer in children with attention deficit and hyperactivity disorder (ADHD) than in their typically developing peers. Due to contradictory available evidence and the paucity of research on vestibular function specifically in children with combined ADHD (cADHD), we designed this aged-matched study to assess vestibular function in children with cADHD...
May 26, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28559079/respiratory-and-swallowing-outcomes-based-on-aneurysm-location-in-360-patients-with-subarachnoid-hemorrhage
#16
Isaac Josh Abecassis, Ryan P Morton, Lynn McGrath, Josiah Hanson, Anna H Xue, Cory M Kelly, Michael R Levitt, Laligam N Sekhar, Louis J Kim
INTRODUCTION: Aneurysmal subarachnoid hemorrhage (aSAH) may result in abnormal respiratory and swallowing function. We analyzed factors that may influence long-term respiratory and swallowing function in aSAH patients, and compared patients with anterior and posterior aneurysm locations. METHODS: We retrospectively reviewed 360 consecutive aSAH patients. We recorded location of the aneurysm and respiratory indices on admission, in-hospital adverse respiratory events and the need for tracheostomy (for respiratory failure) or percutaneous endoscopic gastrostomy (PEG) tube (for prolonged dysphagia)...
May 27, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28556454/genetics-of-hereditary-ataxia-in-scottish-terriers
#17
G Urkasemsin, D M Nielsen, A Singleton, S Arepalli, D Hernandez, C Agler, N J Olby
BACKGROUND: Scottish Terriers have a high incidence of juvenile onset hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex and causing slowly progressive cerebellar dysfunction. OBJECTIVE: To identify chromosomal regions associated with hereditary ataxia in Scottish Terriers. ANIMALS: One hundred and fifty-three Scottish Terriers were recruited through the Scottish Terrier Club of America. MATERIALS AND METHODS: Prospective study...
May 29, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28556404/viral-mediated-oligodendroglial-alpha-synuclein-expression-models-multiple-system-atrophy
#18
Fares Bassil, Paul A Guerin, Nathalie Dutheil, Qin Li, Matthias Klugmann, Wassilios G Meissner, Erwan Bezard, Pierre-Olivier Fernagut
BACKGROUND: MSA is a fatal neurodegenerative disorder characterized by a combination of autonomic dysfunction, cerebellar ataxia, and l-dopa unresponsive parkinsonism. The hallmark of MSA is the accumulation of α-synuclein, forming cytoplasmic inclusions in oligodendrocytes. Adeno-associated viruses allow efficient targeting of disease-associated genes in selected cellular ensembles and have proven efficient for the neuronal overexpression of α-synuclein in the substantia nigra in the context of PD...
May 29, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28551753/cerebellar-and-striatal-pathologies-in-mouse-models-of-autism-spectrum-disorder
#19
Saša Peter, Chris I De Zeeuw, Tobias M Boeckers, Michael J Schmeisser
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component. To date, several hundred different genetic mutations have been identified to play a role in its aetiology. The heterogeneity of genetic abnormalities combined with the different brain regions where aberrations are found makes the search for causative mechanisms a daunting task. Even within a limited number of brain regions, a myriad of different neural circuit dysfunctions may lead to ASD. Here, we review mouse models that incorporate mutations of ASD risk genes causing pathologies in the cerebellum and striatum and highlight the vulnerability of related circuit dysfunctions within these brain regions in ASD pathophysiology...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#20
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
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