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https://www.readbyqxmd.com/read/28643035/clinical-and-imaging-presentation-of-a%C3%A2-patient-with-beta-propeller-protein-associated-neurodegeneration-a%C3%A2-rare-and-sporadic-form-of-neurodegeneration-with-brain-iron-accumulation-nbia
#1
Elke Hattingen, Nikolaus Handke, Kirsten Cremer, Sabine Hoffjan, Guido Matthias Kukuk
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus...
June 22, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28642266/t1-signal-measurements-in-pediatric-brain-findings-after-multiple-exposures-to-gadobenate-dimeglumine-for-imaging-of-nonneurologic-disease
#2
G K Schneider, J Stroeder, G Roditi, C Colosimo, P Armstrong, M Martucci, A Buecker, P Raczeck
BACKGROUND AND PURPOSE: Signal intensity increases possibly suggestive of gadolinium retention have recently been reported on unenhanced T1-weighted images of the pediatric brain following multiple exposures to gadolinium-based MR contrast agents. Our aim was to determine whether T1 signal changes suggestive of gadolinium deposition occur in the brains of pediatric nonneurologic patients after multiple exposures to gadobenate dimeglumine. MATERIALS AND METHODS: Thirty-four nonneurologic patients (group 1; 17 males/17 females; mean age, 7...
June 22, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28640695/gadolinium-brain-deposition-after-macrocyclic-gadolinium-administration-a-pediatric-case-control-study
#3
Daniel Tibussek, Christin Rademacher, Julian Caspers, Bernd Turowski, Jörg Schaper, Gerald Antoch, Dirk Klee
Purpose To determine whether signal intensity (SI) in T1 sequences as a potential indicator of gadolinium deposition increases after repeated administration of the macrocyclic gadolinium-based contrast agents (GBCAs) gadoteridol and gadoterate meglumine in a pediatric cohort. Materials and Methods This retrospective case-control study of children with brain tumors who underwent nine or more contrast material-enhanced brain magnetic resonance (MR) imaging studies from 2008 to 2015 was approved by the local ethics board...
June 21, 2017: Radiology
https://www.readbyqxmd.com/read/28640143/relationship-between-postural-instability-and-subcortical-volume-loss-in-alzheimer-s-disease
#4
Young-Wook Lee, Hyung Lee, In-Sung Chung, Hyon-Ah Yi
The relationship between postural instability and subcortical structure in AD has received less attention. The aims of this study were to assess whether there are differences in the ability to control balance between Alzheimer's disease (AD) and controls, and to investigate the association between subcortical gray matter volumes and postural instability in AD.We enrolled 107 consecutive AD patients and 37 controls. All participants underwent detailed neuropsychological evaluations, T1-weighted MRI at 3 T, and posture assessment using computerized dynamic posturography...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28633499/lateralized-basal-ganglia-vulnerability-to-pesticide-exposure-in-asymptomatic-agricultural-workers
#5
Mechelle M Lewis, Nicholas W Sterling, Guangwei Du, Eun-Young Lee, Grace Shyu, Michael Goldenberg, Thomas Allen, Christy Stetter, Lan Kong, Shedra Amy Snipes, Byron C Jones, Honglei Chen, Richard B Mailman, Xuemei Huang
Background: Pesticide exposure is linked to Parkinson's disease (PD), a neurodegenerative disorder marked by dopamine cell loss in the substantia nigra of the basal ganglia (BG) that often presents asymmetrically. We previously reported that pesticide-exposed agricultural workers (AW) have nigral diffusion tensor (DTI) changes. The current study sought to confirm this finding, and explore its hemisphere and regional specificity within BG structures using an independent sample population...
June 19, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28627790/regional-cerebral-blood-flow-in-opiate-dependence-relates-to-substance-use-and-neuropsychological-performance
#6
Donna E Murray, Timothy C Durazzo, Thomas P Schmidt, Troy A Murray, Christoph Abé, Joseph Guydish, Dieter J Meyerhoff
Neuroimaging of opiate-dependent individuals indicates both altered brain structure and function. Magnetic resonance-based arterial spin labeling has been used to measure noninvasively cerebral blood flow (i.e. perfusion) in alcohol, tobacco and stimulant dependence; only one arterial spin labeling paper in opiate-dependent individuals demonstrated frontal and parietal perfusion deficits. Additional research on regional brain perfusion in opiate dependence and its relationship to cognition and self-regulation (impulsivity, risk taking and decision making) may inform treatment approaches for opiate-dependent individuals...
June 19, 2017: Addiction Biology
https://www.readbyqxmd.com/read/28626843/globally-optimal-label-fusion-with-shape-priors
#7
Ipek Oguz, Satyananda Kashyap, Hongzhi Wang, Paul Yushkevich, Milan Sonka
Multi-atlas label fusion methods have gained popularity in a variety of segmentation tasks given their attractive performance. Graph-based segmentation methods are widely used given their global optimality guarantee. We propose a novel approach, GOLF, that combines the strengths of these two approaches. GOLF incorporates shape priors to the label-fusion problem and provides a globally optimal solution even for the multi-label scenario, while also leveraging the highly accurate posterior maps from a multi-atlas label fusion approach...
October 2016: Medical Image Computing and Computer-assisted Intervention: MICCAI ..
https://www.readbyqxmd.com/read/28623417/a-validated-clinical-mri-injury-scoring-system-in-neonatal-hypoxic-ischemic-encephalopathy
#8
Shamik B Trivedi, Zachary A Vesoulis, Rakesh Rao, Steve M Liao, Joshua S Shimony, Robert C McKinstry, Amit M Mathur
BACKGROUND: Deep nuclear gray matter injury in neonatal hypoxic-ischemic encephalopathy (HIE) is associated with worse neurodevelopmental outcomes. We previously published a qualitative MRI injury scoring system utilizing serial T1-weighted, T2-weighted and diffusion-weighted imaging (DWI), weighted for deep nuclear gray matter injury. OBJECTIVES: To establish the validity of the MRI scoring system with neurodevelopmental outcome at 18-24 months. MATERIALS AND METHODS: MRI scans from neonates with moderate to severe HIE treated with therapeutic hypothermia were evaluated...
June 16, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28619471/oral-haloperidol-or-olanzapine-intake-produces-distinct-and-region-specific-increase-in-cannabinoid-receptor-levels-that-is-prevented-by-high-fat-diet
#9
Foteini Delis, Lauren Rosko, Aditya Schroff, Kenneth E Leonard, Panayotis K Thanos
Clinical studies show higher levels of cannabinoid CB1 receptors (CB1R) in the brain of schizophrenic patients while preclinical studies report a significant functional interaction between dopamine D2 receptors and CB1Rs as well as an upregulation of CB1Rs after antipsychotic treatment. These findings prompted us to study the effects of chronic oral intake of a first and a second generation antipsychotic, haloperidol and olanzapine, on the levels and distribution of CB1Rs in the rat brain. Rats consumed either regular chow or high-fat food and drank water, haloperidol drinking solution (1...
June 12, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28616357/improvement-of-post-hypoxic-myoclonus-with-bilateral-pallidal-deep-brain-stimulation-a-case-report-and-review-of-the-literature
#10
Ritesh A Ramdhani, Steven J Frucht, Brian H Kopell
BACKGROUND: Post-hypoxic myoclonus (PHM) is a syndrome that occurs when a patient has suffered hypoxic brain injury. The myoclonus is usually multifocal and generalized, often stemming from both cortical and subcortical origins. In severe cases, pharmacological treatments with antiepileptic medications may not satisfactorily control the myoclonus. METHODS: We present a case of a 23-year-old male with chronic medication refractory PHM following a cardiopulmonary arrest related to an asthmatic attack who improved with bilateral globus pallidus internus (GPi) deep brain stimulation (DBS)...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28612835/coexisting-variants-in-ostm1-and-maneal-cause-a-complex-neurodegenerative-disorder-with-nbia-like-brain-abnormalities
#11
Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has not been associated with human disease so far. The child suffered from severe infantile-onset neurodegeneration that could not be stopped by bone marrow transplantation...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28610744/prenatal-manganese-exposure-and-intrinsic-functional-connectivity-of-emotional-brain-areas-in-children
#12
Erik de Water, Erika Proal, Victoria Wang, Sandra Martínez Medina, Lourdes Schnaas, Martha María Téllez-Rojo, Robert O Wright, Cheuk Y Tang, Megan K Horton
Manganese (Mn) is an essential trace metal that is neurotoxic at high levels of exposure. Disruption of brain maturation processes during the prenatal period may have lasting consequences. During this critical period, the developing human brain is uniquely vulnerable to exposure to environmental toxicants such as Mn, and prenatal Mn exposure has been associated with changes in brain areas involved in emotion processing and regulation. The goal of the present pilot study was to examine whether prenatal Mn exposure is associated with changes in the intrinsic functional connectivity (iFC) of the brain in childhood, focusing on changes in emotional brain areas...
June 10, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28609296/neuroanatomical-pathways-underlying-the-effects-of-hypothalamo-hypophysial-adrenal-hormones-on-exploratory-activity
#13
Robert Lalonde, Catherine Strazielle
When injected via the intracerebroventricular route, corticosterone-releasing hormone (CRH) reduced exploration in the elevated plus-maze, the center region of the open-field, and the large chamber in the defensive withdrawal test. The anxiogenic action of CRH in the elevated plus-maze also occurred when infused in the basolateral amygdala, ventral hippocampus, lateral septum, bed nucleus of the stria terminalis, nucleus accumbens, periaqueductal grey, and medial frontal cortex. The anxiogenic action of CRH in the defensive withdrawal test was reproduced when injected in the locus coeruleus, while the amygdala, hippocampus, lateral septum, nucleus accumbens, and lateral globus pallidus contribute to center zone exploration in the open-field...
June 13, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/28608288/substance-p-effects-exclusively-on-prototypic-neurons-in-mouse-globus-pallidus
#14
Kazuko Mizutani, Susumu Takahashi, Shinichiro Okamoto, Fuyuki Karube, Fumino Fujiyama
Previous studies have suggested that the neurokinin-1 receptor (NK-1R) expressing neurons in the globus pallidus (GP) receive substance P (SP), presumably released by axon collaterals of striatal direct neurons. However, the effect of SP on the GP remains unclear. In this study, we identified that the SP-responsive cells comprise a highly specific cell type in the GP with regard to immunofluorescence, electrophysiology, and projection properties. Morphologically, NK-1R-immunoreactive neurons occasionally co-expressed parvalbumin (PV) and/or Lim-homeobox 6 (Lhx6), but not Forkhead box protein P2 (FoxP2), which is mainly expressed by arkypallidal neurons...
June 12, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28604158/a-stepwise-approach-decreasing-infection-in-deep-brain-stimulation-for-childhood-dystonic-cerebral-palsy
#15
Stephen J Johans, Kevin N Swong, Ryan C Hofler, Douglas E Anderson
Dystonia is a movement disorder characterized by involuntary muscle contractions, which cause twisting movements or abnormal postures. Deep brain stimulation has been used to improve the quality of life for secondary dystonia caused by cerebral palsy. Despite being a viable treatment option for childhood dystonic cerebral palsy, deep brain stimulation is associated with a high rate of infection in children. The authors present a small series of patients with dystonic cerebral palsy who underwent a stepwise approach for bilateral globus pallidus interna deep brain stimulation placement in order to decrease the rate of infection...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28590521/seventy-years-with-the-globus-pallidus-pallidal-surgery-for-movement-disorders-between-1947-and-2017
#16
REVIEW
Laura Cif, Marwan Hariz
The year 2017 marks the 70th anniversary of the birth of human stereotactic neurosurgery. The first procedure was a pallidotomy for Huntington's disease. However, it was for Parkinson's disease that pallidotomy was soon adopted worldwide. Pallidotomy was abandoned in the late 1950s in favor of thalamotomy because of the latter's more striking effect on tremor. The advent of levodopa put a halt to all surgery for PD. In the mid-1980s, Laitinen reintroduced the posteroventral pallidotomy of Leksell, and this procedure spread worldwide thanks to its efficacy on most parkinsonian symptoms including levodopa-induced dyskinesias and thanks to basic scientific work confirming the role of the globus pallidus internus in the pathophysiology of PD...
June 7, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28588455/circuits-regulating-pleasure-and-happiness-in-bipolar-disorder
#17
Anton J M Loonen, Ralph W Kupka, Svetlana A Ivanova
According to our model, the motivation for appetitive-searching vs. distress-avoiding behaviors is regulated by two parallel cortico-striato-thalamo-cortical (CSTC) re-entry circuits that include the core and the shell parts of the nucleus accumbens, respectively. An entire series of basal ganglia, running from the caudate nucleus on one side to the centromedial amygdala on the other side, control the intensity of these reward-seeking and misery-fleeing behaviors by stimulating the activity of the (pre)frontal and limbic cortices...
2017: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/28587807/association-of-mri-t1-relaxation-time-with-neuropsychological-test-performance-in-manganese-exposed-welders
#18
R M Bowler, C-L Yeh, S W Adams, E J Ward, R Ma, S Dharmadhikari, S A Snyder, E Zauber, C W Wright, U Dydak
This study examines the results of neuropsychological testing of 26 active welders and 17 similar controls and their relationship to welders' shortened MRI T1 relaxation time, indicative of increased brain manganese (Mn) accumulation. Welders were exposed to Mn for an average duration of 12.25 years to average levels of Mn in air of 0.11±0.05mg/m(3). Welders scored significantly worse than controls on Fruit Naming and the Parallel Lines test of graphomotor tremor. Welders had shorter MRI T1 relaxation times than controls in the globus pallidus, substantia nigra, caudate nucleus, and the anterior prefrontal lobe...
June 3, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28586458/disease-stabilization-of-dyt1-positive-primary-generalized-dystonia-with-deep-brain-stimulation-of-the-globus-pallidus-interna-a-15-yr-follow-up
#19
Derrick A Dupre, Raj Nangunoori, Sravanthi Koduri, Cindy Angle, Diane Cantella, Donald Whiting
BACKGROUND AND IMPORTANCE: Primary generalized dystonia (PGD) is a genetic form of dystonia that frequently displays pharmacological resistance and progresses quickly after onset. Deep brain stimulation (DBS) has been used successfully to treat refractory dystonia, specifically globus pallidus interna (GPi) DBS for DYT1-positive PGD patients. Long-term follow-up of the safety and efficacy falls short of the longevity seen in other diseases treated with DBS. CASE PRESENTATION: A male patient presented for neurosurgical evaluation with scapular winging, hand contractures, and violent truncal spasms, which forced him to be bedridden...
June 6, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28583861/genetic-deletion-of-gpr52-enhances-the-locomotor-stimulating-effect-of-an-adenosine-a2a-receptor-antagonist-in-mice-a-potential-role-of-gpr52-in-the-function-of-striatopallidal-neurons
#20
Keiji Nishiyama, Hirobumi Suzuki, Minoru Maruyama, Tomoki Yoshihara, Hiroyuki Ohta
G protein-coupled receptor 52 (GPR52) is largely co-expressed with dopamine D2 receptor (DRD2) in the striatum and nucleus accumbens, and this expression pattern is similar to that of adenosine A2A receptor (ADORA2A). GPR52 has been proposed as a therapeutic target for positive symptoms of schizophrenia, based on observations from pharmacological and transgenic mouse studies. However, the physiological role of GPR52 in dopaminergic functions in the basal ganglia remains unclear. Here, we used GPR52 knockout (KO) mice to examine the role of GPR52 in dopamine receptor-mediated and ADORA2A-mediated locomotor activity and dopamine receptor signaling...
June 2, 2017: Brain Research
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