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https://www.readbyqxmd.com/read/28228833/disruption-of-the-photoreceptor-inner-segment-outer-segment-junction-in-a-6-year-old-girl-with-joubert-syndrome
#1
Shimpei Baba, Eri Takeshita, Hiroko Yamazaki, Mikako Tarashima, Masayuki Sasaki
Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Although JS patients often have retinal degeneration with varying severity, few investigators have utilised OCT in their investigations...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28208915/an-unusual-occurrence-of-methicillin-resistant-staphylococcal-endocarditis-with-vancomycin-creep-phenomenon-a-therapeutic-challenge
#2
S Sneha, Shanthan Venishetty, Shubha Seshadri, M Sudhakar Rao, Chiranjay Mukhopadhyay
Infective endocarditis by Methicillin Resistant Staphylococcus aureus (MRSA) bacteraemia is a common association and carries a high mortality. However, rising Minimum Inhibitory Concentrations (MICs) for vancomycin amongst MRSA strains is an emerging threat which carries poor prognosis and higher mortality. Here, we report a case of 41-year-old young non-addict gentleman presenting with fever of 3 days duration following recovery from an acute kidney injury necessitating haemodialysis. Systemic examination revealed signs of mitral regurgitation and left sided cerebellar signs...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203181/bilateral-superior-cerebellar-artery-embolic-occlusion-with-a-fetal-type-posterior-cerebral-artery-providing-collateral-circulation
#3
Taylor J Bergman, Rachael C Saporito, Thomas Hope
Bilateral infarction of the superior cerebellar arteries with sparing of the rest of the posterior circulation, particularly the posterior cerebral arteries, is an uncommon finding in neurological practice. Most commonly, the deficits of the superior cerebellar arteries and posterior cerebral arteries occur together due to the close proximity of their origins at the top of the basilar artery. A patient was transferred to the neurological intensive care unit with a history of recent-onset falls from standing, profound hypertension, dizziness, and headaches...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/28202694/pure-autonomic-failure-predictors-of-conversion-to-clinical-cns-involvement
#4
Wolfgang Singer, Sarah E Berini, Paola Sandroni, Robert D Fealey, Elizabeth A Coon, Mariana D Suarez, Eduardo E Benarroch, Phillip A Low
OBJECTIVE: Based on the observation that a subset of patients originally diagnosed with pure autonomic failure (PAF) eventually develops extrapyramidal or cerebellar involvement consistent with multiple system atrophy (MSA), Parkinson disease (PD), or dementia with Lewy bodies (DLB), we aimed to identify predictors of progression of PAF to more sinister synucleinopathies. METHODS: In this retrospective cohort study, we reviewed patients seen at Mayo Clinic Rochester by autonomic specialists between 2001 and 2011 and during initial evaluation diagnosed with orthostatic hypotension consistent with PAF (possible PAF)...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28195523/characteristics-of-implicit-sensorimotor-adaptation-revealed-by-task-irrelevant-clamped-feedback
#5
John Ryan Morehead, Jordan A Taylor, Darius Parvin, Richard B Ivry
Sensorimotor adaptation occurs when there is a discrepancy between the expected and actual sensory consequences of a movement. This learning can be precisely measured, but its source has been hard to pin down because standard adaptation tasks introduce two potential learning signals: task performance errors and sensory prediction errors. Here we employed a new method that induces sensory prediction errors without task performance errors. This method combines the use of clamped visual feedback that is angularly offset from the target and independent of the direction of motion, along with instructions to ignore this feedback while reaching to targets...
February 14, 2017: Journal of Cognitive Neuroscience
https://www.readbyqxmd.com/read/28195100/a-54-year-old-male-with-rapidly-progressive-neurologic-syndrome-clinicopathologic-correlation-of-a-rare-diagnosis
#6
Deepti Mutreja, Nikhil Moorchung, Salil Gupta, Rajeev Saxena, Rohini S Doshetty, Bhaskar Nandi
Diagnosis of systemic lupus erythematosus (SLE) as primary presentation with central nervous system involvement as a rapidly progressive neurologic syndrome is extremely rare. We present a rare case of a 54-year-old hypertensive male patient, who presented with a fulminant neurologic syndrome. He presented with cerebellar and meningeal signs, aseptic meningitis and had a rapid downhill course following admission. A postmortem revealed feature of systemic connective tissue fulfilling diagnostic criteria of SLE with lupus cerebritis...
January 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28195034/treatment-of-spinocerebellar-ataxia-with-mesenchymal-stem-cells-a-phase-i-iia-clinical-study
#7
Yun-An Tsai, Ren-Shyan Liu, Jiing-Feng Lirng, Bang-Hung Yang, Chin-Hao Chang, YiChen Wang, Yu-Shan Wu, Jennifer Hui-Chun Ho, Oscar K Lee, Bing-Wen Soong
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there isn’tany effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases. We hereby report the results of a phase I/IIa clinical study conducted in Taiwan to primarily evaluate the safety, tolerability and, secondarily, the possible efficacy of intravenous administration of allogeneic adipose tissuederived MSCs from healthy donors...
February 14, 2017: Cell Transplantation
https://www.readbyqxmd.com/read/28193273/stub1-chip-mutations-cause-gordon-holmes-syndrome-as-part-of-a-widespread-multisystemic-neurodegeneration-evidence-from-four-novel-mutations
#8
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
BACKGROUND: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. METHODS: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations...
February 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28188217/hebbian-spike-timing-dependent-plasticity-at-the-cerebellar-input-stage
#9
M Sgritta, F Locatelli, T Soda, F Prestori, E D'Angelo
Spike-timing dependent plasticity (STDP) is a form of long-term synaptic plasticity exploiting the time relationship between postsynaptic action potentials (AP) and EPSPs. Surprisingly enough, very little was known about STDP in the cerebellum, although it is thought to play a critical role for learning appropriate timing of actions. We speculated that low-frequency oscillations observed in the granular layer may provide a reference for repetitive EPSP/AP phase coupling. Here we show that EPSP-spike pairing at 6Hz can optimally induce STDP at the mossy fiber - granule cell synapse in rats...
February 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28181693/frontotemporal-lobar-degeneration-tdp-with-multiple-system-atrophy-phenocopy-syndrome
#10
Ana Luísa Sousa, Ricardo Taipa, Niall Quinn, Tamas Revesz, Manuel Melo Pires, Marina Magalhães
Multiple system atrophy (MSA) is a neurodegenerative disorder presenting with parkinsonism, cerebellar involvement, autonomic dysfunction and pyramidal signs (1). Two main clinical subtypes of MSA are recognized: a parkinsonian-type (MSA-P) associated with predominant nigrostriatal degeneration and a cerebellar-type (MSA-C) with predominant olivopontocerebellar atrophy. A 'definite' diagnosis requires pathological confirmation with demonstration of glial cytoplasmic inclusions comprising alpha-synuclein protein aggregates (1)...
February 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28177040/clinical-pathological-and-molecular-evaluations-and-ct-scan-screening-of-coenurosis-coenurus-cerebralis-in-sheep-and-calves
#11
Abdullah Gazioglu, Sami Simsek, Omer Kizil, Ali Osman Ceribasi, Harun Kaya Kesik, Haroon Ahmed
The aims of this study were to diagnose coenurosis by means of computerized tomography (CT) scan imaging and molecular characterization of the CO1 gene using the polymerase chain reaction (PCR). Sheep and calves were necropsied, and CT scans on the cephalic region were performed on the animals. Sections of brain tissue infected with parasites were then stained with hematoxylin and eosin for microscopic examination. Material collected from brain cysts was fixed in 70% ethanol. PCR amplification was carried out using the CO1 mitochondrial gene...
February 6, 2017: Revista Brasileira de Parasitologia Veterinária, Brazilian Journal of Veterinary Parasitology
https://www.readbyqxmd.com/read/28176975/familial-aggregation-of-the-cerebellar-signs-in-familial-essential-tremor
#12
Elan D Louis, Nora Hernandez, Karen P Chen, Kelly V Naranjo, Jemin Park, Lorraine N Clark, Ruth Ottman
BACKGROUND: Although the hallmark feature of essential tremor (ET) is kinetic tremor, patients may exhibit additional motor features (e.g., intention tremor and mild gait ataxia) that are markers of an underlying abnormality of cerebellar function. ET is also a highly familial disorder, but we do not know whether the presence and expression of cerebellar signs are similar across family members. There are simply no published data. The alternative possibility is that these features are not heritable...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28166936/cerebellar-disease-of-ruminants
#13
REVIEW
Philippa Gibbons
Cerebellar disease can be congenital or acquired. Clinical signs of cerebellar disease include hypermetric gait in all limbs, normal to increased muscle tone, wide-based stance, swaying, intention tremor, and convulsions. Vestibular signs may be observed. Differential diagnoses for etiology include congenital (hypoplasia, abiotrophy, and lysosomal storage diseases), viral, bacterial, and toxic plants. Animals may present aborted as fetuses or stillborn, be affected at birth, develop disease at a few months old, or acquire the disease later in life...
March 2017: Veterinary Clinics of North America. Food Animal Practice
https://www.readbyqxmd.com/read/28155600/green-tea-camellia-sinensis-protects-against-arsenic-neurotoxicity-via-antioxidative-mechanism-and-activation-of-superoxide-dismutase-activity
#14
Smarajit Maiti, Nirmallya Acharyya, Tamal K Ghosh, Sk Sajed Ali, Emili Manna, Aarifa Nazmeen, Nirmalya K Sinha
BACKGROUND: Chronic arsenic-exposure even at a low-dose results in the neural impairment and motor/cognitive dysfunction. However, several preventive approaches are made mainly against hepatic/gastrointestinal damages. Only a few investigations postulate therapeutic strategies for neural anomalies. Here, the protective role of Green tea (Camellia sinensis or CS; 10mg/ml aqueous) has been evaluated against arsenic-induced (0.6ppm/100g bw/28 days) cerebral/cerebellar tissue degeneration, oxidative-threats and neurotransmitter deregulation in female rats...
February 1, 2017: Central Nervous System Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/28138907/sialidosis-type-1-with-a-novel-mutation-in-the-neuraminidase-1-neu1-gene
#15
Vykuntaraju K Gowda, Varun M Srinivasan, Naveen Benakappa, Asha Benakappa
A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene...
January 31, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28137957/loss-of-function-mutations-in-the-atp13a2-park9-gene-cause-complicated-hereditary-spastic-paraplegia-spg78
#16
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Zuchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments...
February 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28131191/potential-multisystem-degeneration-in-asidan-patients
#17
Yasuyuki Ohta, Toru Yamashita, Nozomi Hishikawa, Kota Sato, Kosuke Matsuzono, Keiichiro Tsunoda, Noriko Hatanaka, Mami Takemoto, Toshihiko Takemi, Kazuhiro Takamatsu, Koji Abe
OBJECTIVE: To evaluate a potential multisystem involvement of neurodegeneration in Asidan, in addition to cerebellar ataxia and signs of motor neuron disease. METHODS: We compared the new Asidan patients and those identified in previous studies with Parkinson's disease (PD, n=21), and progressive supranuclear palsy (PSP, n=13) patients using (123)I-2β-Carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane ((123)I-FP-CIT) dopamine transporter single photon emission computed tomography (DAT-SPECT) and (123)I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy (Asidan, DAT: n=10; MIBG: n=15)...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28127172/orocraniofacial-findings-of-a-pediatric-patient-with-joubert-syndrome
#18
Mridula Goswami, Anju S Rajwar, Mahesh Verma
: Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28125082/molecular-genetic-findings-and-clinical-correlations-in-100-patients-with-joubert-syndrome-and-related-disorders-prospectively-evaluated-at-a-single-center
#19
Thierry Vilboux, Daniel A Doherty, Ian A Glass, Melissa A Parisi, Ian G Phelps, Andrew R Cullinane, Wadih Zein, Brian P Brooks, Theo Heller, Ariane Soldatos, Neal L Oden, Deniz Yildirimli, Meghana Vemulapalli, James C Mullikin, Nisc Comparative Sequencing Program, May Christine V Malicdan, William A Gahl, Meral Gunay-Aygun
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients. METHODS: In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES)...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28118383/methylmercury-causes-blood-brain-barrier-damage-in-rats-via-upregulation-of-vascular-endothelial-growth-factor-expression
#20
Tetsuya Takahashi, Masatake Fujimura, Misaki Koyama, Masato Kanazawa, Fusako Usuki, Masatoyo Nishizawa, Takayoshi Shimohata
Clinical manifestations of methylmercury (MeHg) intoxication include cerebellar ataxia, concentric constriction of visual fields, and sensory and auditory disturbances. The symptoms depend on the site of MeHg damage, such as the cerebellum and occipital lobes. However, the underlying mechanism of MeHg-induced tissue vulnerability remains to be elucidated. In the present study, we used a rat model of subacute MeHg intoxication to investigate possible MeHg-induced blood-brain barrier (BBB) damage. The model was established by exposing the rats to 20-ppm MeHg for up to 4 weeks; the rats exhibited severe cerebellar pathological changes, although there were no significant differences in mercury content among the different brain regions...
2017: PloS One
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