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https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#1
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820279/mri-and-clinical-characteristics-of-suspected-cerebrovascular-accident-in-nine-cats
#2
Danielle E Whittaker, Randi Drees, Elsa Beltran
Objectives Cerebrovascular accidents (CVAs) are infrequently reported in cats. To date, clinical characteristics, including lesion localisation and MRI findings, have only been reported in two cats. The aim of the current study is to document MRI findings in cats presenting with CVAs over an 11 year period. Cases were reviewed according to initial clinical presentation, subsequent physical and neurological findings, predisposing systemic disease and short- and long-term (when available) outcome with a view to identifying any typical pattern in disease occurrence...
August 1, 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28819680/quantitative-approach-to-the-posterior-cranial-fossa-and-craniocervical-junction-in-asymptomatic-children-with-achondroplasia
#3
Rosalinda Calandrelli, Marco Panfili, Gabriella D'Apolito, Giuseppe Zampino, Alessandro Pedicelli, Fabio Pilato, Cesare Colosimo
PURPOSE: We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression. METHODS: We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume...
August 17, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28819302/generation-and-intracellular-trafficking-of-a-polysialic-acid-carrying-fragment-of-the-neural-cell-adhesion-molecule-ncam-to-the-cell-nucleus
#4
Nina Westphal, Gabriele Loers, David Lutz, Thomas Theis, Ralf Kleene, Melitta Schachner
Polysialic acid (PSA) and its major protein carrier, the neural cell adhesion molecule NCAM, play important roles in many nervous system functions during development and in adulthood. Here, we show that a PSA-carrying NCAM fragment is generated at the plasma membrane by matrix metalloproteases and transferred to the cell nucleus via endosomes and the cytoplasm. Generation and nuclear import of this fragment in cultured cerebellar neurons is induced by a function-triggering NCAM antibody and a peptide comprising the effector domain (ED) of myristoylated alanine-rich C kinase substrate (MARCKS) which interacts with PSA within the plane of the plasma membrane...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819090/management-of-spontaneous-intracerebral-hematoma
#5
Motohiro Morioka, Kimihiko Orito
The incidence of spontaneous intracerebral hematoma (SICH) is even now high worldwide, especially higher in Japan than in Western countries, despite the development of advances in blood pressure (BP) management and food/alcohol intake education. Although mortality and morbidity for SICH are high, some controversies remain regarding the appropriate acute phase of treatment. Recent studies have revealed that BP lowering treatment than 140 mmHg resulted in better outcomes. However the efficacy of surgical treatment for SICH has not been well established, with the exception of that for cerebellar SICH over 3 cm in diameter and life-saving procedures, although many randomized control studies and systematic reviews focused on surgical treatment have been reported...
August 15, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28819077/-gluten-ataxia-anti-transglutaminase-6-antibody-as-a-new-biomarker
#6
Kenji Sato, Kazunori Nanri
Gluten-related disorders (GRDs) are conditions that develop in response to the common trigger of gluten ingestion and manifest as a variety of clinical symptoms. GRDs have been considered rare in Asian countries, including Japan, because of lower consumption of wheat products than in Europe and the U.S.A. and differences in genetic background. Recently, however, GRDs, such as celiac disease and gluten ataxia, have been reported in Japan, albeit sporadically and their presence is now recognized in this country...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819076/-molecularly-targeted-therapy-of-spinocerebellar-ataxia-type-1-by-hmgb1
#7
Kyota Fujita, Hitoshi Okazawa
Spinocerebellar ataxia type 1 (SCA1) is an untreatable neurodegenerative disease. We reported a decrease in HMGB1 levels in the nucleus of cerebellar neurons in mouse SCA 1. The decrease in this DNA architectural protein leads to the impairment of DNA repair and transcription, the two essential nuclear functions, and eventually causes neurodegeneration. We have designed a gene therapy using AAV-HMGB1 and tested it using the mouse model. Based on the results of these proof of concept (POC) studies, we are now preparing GMP-level AAV vector and designing human clinical trials...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819072/-overview-of-hereditary-spinocerebellar-ataxias-in-japan
#8
Masayoshi Tada, Akio Yokoseki, Osamu Onodera
Hereditary spinocerebellar degenerations (SCD) are a group of neurodegenerative disorders characterized by slowly progressive ataxia associated with non-cerebellar neurological signs and symptoms. In the Japanese population, dominantly inherited SCDs are much more common than recessively inherited or X-linked SCDs. The most common dominantly inherited SCD in Japan, as well as in many other countries, is Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (MJD/SCA3). MJD/SCA3 is frequently accompanied by non-cerebellar symptoms, including progressive external ophthalmoplegia, pyramidal signs, dystonia, rigidity, dysarthria, and distal muscle atrophies...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28818825/mr-imaging-features-of-the-cerebellum-in-adult-onset-neuronal-intranuclear-inclusion-disease-8-cases
#9
A Sugiyama, N Sato, Y Kimura, T Maekawa, M Enokizono, Y Saito, Y Takahashi, H Matsuda, S Kuwabara
Neuronal intranuclear inclusion disease is a neurodegenerative disorder pathologically characterized by eosinophilic hyaline intranuclear inclusions. A high-intensity signal along the corticomedullary junction on DWI has been described as a specific MR imaging finding of the cerebrum in neuronal intranuclear inclusion disease. However, MR imaging findings of the cerebellum in neuronal intranuclear inclusion disease have not been fully evaluated. Here, we review MR imaging findings of the cerebellum in a series of 8 patients with pathologically confirmed neuronal intranuclear inclusion disease...
August 17, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28818149/cerebellar-infarction-presenting-with-acute-vestibular-syndrome-in-two-u-s-air-force-pilots
#10
Roger R Hesselbrock
BACKGROUND: Cerebellar infarction is an uncommon but serious cause of isolated acute vestibular symptoms, particularly in young, healthy individuals, and can easily be overlooked. We present two cases of cerebellar infarction in U.S. Air Force pilots, one of which occurred during flight. CASE REPORTS: A 41-yr-old man developed acute vertigo, disequilibrium, nausea, and headache, with progressive slow symptomatic improvement, and presented to medical attention 4 d after symptom onset...
September 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28816690/complications-of-the-middle-cranial-fossa-approach-for-acoustic-neuroma-removal
#11
Matthias Scheich, Christian Ginzkey, Desiree Ehrmann Müller, Wafaa Shehata Dieler, Rudolf Hagen
OBJECTIVE: To analyze postoperative complications after microsurgery for acoustic neuroma (AN) via the middle fossa approach (MFA). MATERIALS AND METHODS: In total, 203 consecutive patients of a tertiary skull base referral center at a university hospital were included in this retrospective chart and database analysis. All patients had undergone primary microsurgery at the Otorhinolaryngology department via MFA between December 2005 and October 2014. Postoperative complications were documented during the inpatient stay and outpatient follow-up...
August 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#12
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815574/age-related-reference-values-for-the-pediatric-scale-for-assessment-and-rating-of-ataxia-a-multicentre-study
#13
Tjitske F Lawerman, Rick Brandsma, Huibert Burger, Johannes G M Burgerhof, Deborah A Sival
AIM: For reliable assessment of ataxia severity in children, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society aimed to validate the Scale for Assessment and Rating of Ataxia (SARA) according to age. METHOD: Twenty-two pediatric ataxia experts from 15 international institutions scored videotaped SARA performances in 156 typically developing children (4-16y: m/f=1; 12 children per year of age; including nine different nationalities)...
August 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28815096/a-case-of-congenital-brainstem-oligodendroglioma-pathology-findings-and-review-of-the-literature
#14
Stefan Kostadinov, Suzanne de la Monte
Congenital and perinatal primary brain neoplasms are extremely rare. Brainstem neoplasms in the perinatal and neonatal period are typically of high-grade nature and have poor prognoses with survival rates of less than 2 years from diagnosis. Herein, we report an unusual case of congenital anaplastic oligodendroglioma that arose in the pons and was detected as diffuse pontine glioma on in utero imaging studies during prenatal evaluation at 26 weeks' gestation. A male infant was delivered at 36.4 weeks of gestation via Cesarean section who developed progressive dyspnea shortly after birth...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28814870/abnormal-intrinsic-functional-hubs-in-alcohol-dependence-evidence-from-a-voxelwise-degree-centrality-analysis
#15
Xiaoping Luo, Linghong Guo, Xi-Jian Dai, Qinglai Wang, Wenzhong Zhu, Xinjun Miao, Honghan Gong
OBJECTIVE: To explore the abnormal intrinsic functional hubs in alcohol dependence using voxelwise degree centrality analysis approach, and their relationships with clinical features. MATERIALS AND METHODS: Twenty-four male alcohol dependence subjects free of medicine (mean age, 50.21±9.62 years) and 24 age- and education-matched male healthy controls (mean age, 50.29±8.92 years) were recruited. The alcohol use disorders identification test and the severity of alcohol dependence questionnaire (SADQ) were administered to assess the severity of alcohol craving...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28813814/toward-quantitative-characterization-of-essential-tremor-for-future-tremor-suppression
#16
Steven K Charles, Daniel W Geiger, Andrew D Davidson, Adam C Pigg, C Paul Curtis, Brendon C Allen
Tremor is the most common movement deficit and manifests in a variety of disorders, including Essential Tremor, Parkinson's Disease, Dystonia, and Cerebellar Ataxia. Although medication and surgical interventions have significantly reduced patient suffering, they are only partially effective and can carry undesired side effects, leaving many patients without satisfactory treatment options. Wearable tremor-suppressing devices could provide an alternative to medication and surgery. Multiple research groups have developed orthotic prototypes to low-pass filter tremor, but these devices have not yet been optimized for in-vivo use...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28811513/altered-cerebellar-biochemical-profiles-in-infants-born-prematurely
#17
Marie Brossard-Racine, Jonathan Murnick, Marine Bouyssi-Kobar, Janie Coulombe, Taeun Chang, Catherine Limperopoulos
This study aims to compare the cerebellar biochemical profiles in preterm (PT) infants evaluated at term equivalent age (TEA) and healthy full-term newborns using proton magnetic resonance spectroscopy ((1)H-MRS). We explore the associations between altered cerebellar metabolite profiles and brain injury topography, severity of injury, and prematurity-related clinical complications. We prospectively collected high quality (1)H-MRS in 59 premature infants born ≤32 weeks and 61 healthy full term controls. (1)H-MRS data were processed using LCModel software to calculate absolute metabolite concentration for N-acetyl-aspartate (NAA), choline (Cho) and creatine (Cr)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28810923/the-chemokine-fractalkine-cx3cl1-attenuates-h2o2-induced-demyelination-in-cerebellar-slices
#18
Sinead A O'Sullivan, Kumlesh K Dev
BACKGROUND: Fractalkine/CX3CR1 signalling has been implicated in many neurodegenerative and neurological diseases of the central nervous system (CNS). This signalling pathway plays an important role in regulating reactive oxygen species (ROS), as well as itself being altered in conditions of oxidative stress. Here, we investigated the effects of recombinant fractalkine (rCX3CL1) in models of hydrogen peroxide (H2O2)-induced demyelination and astrocyte toxicity, within organotypic cerebellar slice cultures...
August 15, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28808827/distinctive-localization-and-mri-features-correlate-of-molecular-subgroups-in-adult-medulloblastoma
#19
Fu Zhao, Chunde Li, Qiangyi Zhou, Peiran Qu, Bo Wang, Xin Wang, Shun Zhang, Xingchao Wang, Chi Zhao, Jing Zhang, Lin Luo, Lin Ai, Lei Xu, Pinan Liu
Medulloblastoma (MB) is recognized as comprising four molecular subgroups with distinct transcriptional profiles, clinical features, and outcomes. Previous studies demonstrate that pediatric MBs present with subgroup-specific MRI manifestations. We hypothesized that combination of anatomical localization and conventional features based on MR imaging can predict these subgroups in adult MBs. MR Imaging manifestations of 125 adult patients with MB were analyzed retrospectively based on pre-operative MRI scans...
August 14, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28808785/conserved-dna-methylation-combined-with-differential-frontal-cortex-and-cerebellar-expression-distinguishes-c9orf72-associated-and-sporadic-als-and-implicates-serpina1-in-disease
#20
Mark T W Ebbert, Christian A Ross, Luc J Pregent, Rebecca J Lank, Cheng Zhang, Rebecca B Katzman, Karen Jansen-West, Yuping Song, Edroaldo Lummertz da Rocha, Carla Palmucci, Pamela Desaro, Amelia E Robertson, Ana M Caputo, Dennis W Dickson, Kevin B Boylan, Rosa Rademakers, Tamas Ordog, Hu Li, Veronique V Belzil
We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis. We have now generated complementary methylome data and combine these two data sets to perform a comprehensive "multi-omic" analysis to clarify the molecular mechanisms initiating RNA misregulation in ALS. We found that c9ALS and sALS patients have generally distinct but overlapping methylome profiles, and that the c9ALS- and sALS-affected genes and pathways have similar biological functions, indicating conserved pathobiology in disease...
August 14, 2017: Acta Neuropathologica
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