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https://www.readbyqxmd.com/read/28430790/whole-genome-sequencing-suggests-mechanisms-for-22q11-2-deletion-associated-parkinson-s-disease
#1
Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett
OBJECTIVES: To investigate disease risk mechanisms of early-onset Parkinson's disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD. METHODS: In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigate sequence variants in nine adults with 22q11.2DS, three with neuropathologically confirmed early-onset PD and six without PD. Adopting an approach used recently to study schizophrenia in 22q11...
2017: PloS One
https://www.readbyqxmd.com/read/28430294/grn-mutation-in-a-patient-with-a-behavioral-variant-of-frontotemporal-lobar-degeneration-bvftd
#2
Sylwia Walczysková, Pavel Ressner, Šárka Hilscherová, Jaroslav Kotlas, Jiří Konrád, Věnceslava Svobodová
<i>The clinical spectrum of frontotemporal lobar degeneration (FTLD) is characterized by personality changes, language impairment, and executive function deficits. About 40% of FTLD cases have a family history of the disease, and the GRN gene is currently the most frequent genetic determinant. In cases of inherited FTLD with GRN mutations, parkinsonism is often an early sign due to greater grey matter atrophy in the caudate nucleus and bilateral atrophy in the thalamus. We investigated a female patient with signs of frontotemporal lobe atrophy and unilateral caudate nucleus atrophy on MRI...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28430290/frequency-and-topography-of-small-cerebrovascular-lesions-in-vascular-and-in-mixed-dementia-a-post-mortem-7-tesla-magnetic-resonance-imaging-study-with-neuropathological-correlates
#3
Jacques De Reuck, Florent Auger, Nicolas Durieux, Vincent Deramecourt, Claude-Alain Maurage, Charlotte Cordonnier, Florence Pasquier, Didier Leys, Regis Bordet
<i><b>Introduction</b>: Mixed dementia (MixD) refers to a combination of definite Alzheimer's disease (AD) and vascular encephalopathy. The existence of a "pure" type of vascular dementia (VaD) is controversial. There is a need to find magnetic resonance imaging (MRI) characteristics allowing the distinction between VaD and MixD. The present post-mortem 7.0-tesla MRI compares the frequency or severity and the topography of the small cerebrovascular lesions in brains of patients with VaD and with MixD...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28429640/spinal-alterations-of-reil-insula-in-alzheimer-s-disease
#4
Foivos E Petrides, Ioannis A Mavroudis, Martha Spilioti, Fotios G Chatzinikolaou, Vasiliki G Costa, Stavros J Baloyannis
Alzheimer's disease (AD) is a progressive neurodegenerative disease that involves numerous cellular and biochemical mechanisms resulting in synaptic alterations and extensive neuronal loss. It is primarily characterized by impairment of memory, associated frequently with mood disorders. Continuous studies have shown that insula may be an important target of AD, but neuropathological alterations have not been described extensively. In the present study, we attempted to describe the morphometric and morphological changes of the spines of Reil insula in AD in comparison with normal aging using a silver impregnation technique...
January 1, 2017: American Journal of Alzheimer's Disease and Other Dementias
https://www.readbyqxmd.com/read/28429635/congenital-hypothalamic-hamartoblastoma-versus-hamartoma
#5
C Dunham, D McFadden, L Dahlgren, B Butler, S Hamilton, M McKinnon
Pallister Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication in 1980, hypothalamic tumors have been recognized to be a cardinal feature of PHS. In their original description of the neuropathologic features of PHS, Clarren et al. coined the term "hamartoblastoma" to characterize what they deemed to be a dual malformative and neoplastic mass of the hypothalamus. In subsequent published cases/series of PHS, the term "hamartoma" was often substituted for hamartoblastoma given what appeared to be a benign natural history of this lesion...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28429448/white-matter-microstructure-variations-contribute-to-neurological-soft-signs-in-healthy-adults
#6
Dusan Hirjak, Philipp A Thomann, Robert C Wolf, Katharina M Kubera, Caspar Goch, Jan Hering, Klaus H Maier-Hein
OBJECTIVE: Neurological soft signs (NSS) are core features of psychiatric disorders with significant neurodevelopmental origin. However, it is unclear whether NSS correlates are associated with neuropathological processes underlying the disease or if they are confounded by medication. Given that NSS are also present in healthy persons (HP), investigating HP could reveal NSS correlates, which are not biased by disease-specific processes or drug treatment. Therefore, we used a combination of diffusion MRI analysis tools to provide a framework of specific white matter (WM) microstructure variations underlying NSS in HP...
April 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28429234/neuron-to-neuron-transfer-of-fus-in-drosophila-primary-neuronal-culture-is-enhanced-by-als-associated-mutations
#7
Sébastien Feuillette, Morgane Delarue, Gaëtan Riou, Anne-Lise Gaffuri, Jane Wu, Zsolt Lenkei, Olivier Boyer, Thierry Frébourg, Dominique Campion, Magalie Lecourtois
The DNA- and RNA-binding protein fused in sarcoma (FUS) has been pathologically and genetically linked to amyotrophic lateral sclerosis (ALS) or frontotemporal lobar degeneration (FTLD). Cytoplasmic FUS-positive inclusions were identified in the brain and spinal cord of a subset of patients suffering with ALS/FTLD. An increasing number of reports suggest that FUS protein can behave in a prion-like manner. However, no neuropathological studies or experimental data were available regarding cell-to-cell spread of these pathological protein assemblies...
April 20, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28427413/adiponectin-levels-in-the-serum-and-cerebrospinal-fluid-of-amyotrophic-lateral-sclerosis-patients-possible-influence-on-neuroinflammation
#8
Patrizia Bossolasco, Raffaella Cancello, Alberto Doretti, Claudia Morelli, Vincenzo Silani, Lidia Cova
BACKGROUND: Adiponectin (APN) is a key player in energy homeostasis strictly associated with cerebrovascular and neurodegenerative diseases. Since APN also belongs to anti-inflammatory-acting adipokines and may influence both neuroinflammation and neurodegenerative processes, we decided to study the APN levels in amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases. METHODS: We assessed APN levels by ELISA immunoassay in both the serum and cerebrospinal fluid of a cohort of familial and sporadic ALS patients, characterized by normal body mass index and absence of dysautonomic symptoms...
April 20, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28426417/neuropathological-lesions-of-clinical-and-sub-clinical-coenurosis-coenurus-cerebralis-in-organized-goat-farms-in-india
#9
Nayakwadi Shivasharanappa, Nitika Sharma, Dinesh Kumar Sharma, Rajveer Singh Pawaiya, Beena Vamadevan, Anil Kumar Mishra, Souvik Paul
Clinical and sub clinical cases of Coenurosis due to Coenurus cerebralis in goats were documented based on clinical, post mortem examination, identification of parasitic stages, gross and histopathological lesions in brain of animals died due to abnormal neurological symptoms. The most prominent site of predilection of coenuri cysts in brain was cerebral hemispheres and multiple cysts were found in majority of the cases. Generalized congestion, thinning of brain parenchyma due to pressure atrophy, gliosis, neuronal degeneration, protoscolices in brain parenchyma and inflammatory cell reactions predominantly comprised of lymphocytes and macrophages were prominent neuropathological lesions observed in brain...
June 1, 2017: Acta Parasitologica
https://www.readbyqxmd.com/read/28424764/diffusion-tensor-imaging-colour-mapping-threshold-for-identification-of-ventilation-induced-brain-injury-after-intrauterine-inflammation-in-preterm-lambs
#10
Dhafer M Alahmari, Beatrice Skiöld, Samantha K Barton, Ilias Nitsos, Courtney McDonald, Suzanne L Miller, Valerie Zahra, Robert Galinsky, Qizhu Wu, Michael John Farrell, Timothy J Moss, Stuart B Hooper, James T Pearson, Graeme R Polglase
PURPOSE: The aim of this study is to examine whether advanced magnetic resonance imaging (MRI) techniques can detect early brain injury caused by intrauterine inflammation and inappropriate initial respiratory support in preterm lambs. HYPOTHESIS: Neuropathology caused by intrauterine inflammation is exacerbated by mechanical ventilation at birth and is detectable with advanced MRI techniques. METHODS: Pregnant ewes received intra-amniotic lipopolysaccharide (LPS) 7 days prior to delivery at ~125 days of gestation (85% of gestation), whereupon lambs were delivered and randomised to receive an injurious (LPS + INJ, n = 6) or protective (LPS + PROT, n = 6) ventilation strategy...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28424745/distinguishing-the-unique-neuropathological-profile-of-blast-polytrauma
#11
W Brad Hubbard, Shaylen Greenberg, Carly Norris, Joseph Eck, Erin Lavik, Pamela VandeVord
Traumatic brain injury sustained after blast exposure (blast-induced TBI) has recently been documented as a growing issue for military personnel. Incidence of injury to organs such as the lungs has decreased, though current epidemiology still causes a great public health burden. In addition, unprotected civilians sustain primary blast lung injury (PBLI) at alarming rates. Often, mild-to-moderate cases of PBLI are survivable with medical intervention, which creates a growing population of survivors of blast-induced polytrauma (BPT) with symptoms from blast-induced mild TBI (mTBI)...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28424614/relationship-between-cognitive-and-sleep-wake-variables-in-asymptomatic-offspring-of-patients-with-late-onset-alzheimer-s-disease
#12
Carolina Abulafia, Bárbara Duarte-Abritta, Mirta F Villarreal, María S Ladrón-de-Guevara, Celeste García, Geraldine Sequeyra, Gustavo Sevlever, Leticia Fiorentini, Karl-Jürgen Bär, Deborah R Gustafson, Daniel E Vigo, Salvador M Guinjoan
Early neuropathological changes characteristic of late-onset Alzheimer's disease (LOAD) involve brain stem and limbic structures that regulate neurovegetative functions, including sleep-wake rhythm. Indeed, sleep pattern is an emerging biomarker and a potential pathophysiological mechanism in LOAD. We hypothesized that cognitively asymptomatic, middle-aged offspring of patients with LOAD (O-LOAD) would display a series of circadian rhythm abnormalities prior to the onset of objective cognitive alterations. We tested 31 children of patients with LOAD (O-LOAD) and 19 healthy individuals without family history of Alzheimer's disease (control subjects, CS) with basic tests of cognitive function, as well as actigraphy measures of sleep-wake rhythm, cardiac autonomic function, and bodily temperature...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28424287/protective-efficacy-of-formaldehyde-inactivated-whole-virus-vaccine-and-antivirals-in-a-murine-model-of-coxsackievirus-a10-infection
#13
Zhenjie Zhang, Zhaopeng Dong, Juan Li, Michael J Carr, Dongming Zhuang, Jianxing Wang, Yawei Zhang, Shujun Ding, Yigang Tong, Dong Li, Weifeng Shi
Coxsackievirus A10 (CVA10) is one of the major pathogens associated with hand, foot and mouth disease (HFMD). CVA10 infection can cause herpangina and viral pneumonia, which can be complicated by severe neurological sequelae. Morbidity and mortality of CVA10-associated HFMD has been increasing in recent years, particularly in the pan-Pacific region. There are limited studies however on the pathogenesis and immunology of CVA10-associated HFMD infections, and few antiviral drugs or vaccines have been reported...
April 19, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28424147/treatment-of-leukoencephalopathy-with-calcifications-and-cysts-with-bevacizumab
#14
Alex J Fay, Allison A King, Joshua S Shimony, Yanick J Crow, Jan E Brunstrom-Hernandez
BACKGROUND: Leukoencephalopathy with calcifications and cysts is a rare, autosomal recessive cerebral microangiopathy that causes progressive white matter disease, calcifications, and cysts within the brain. It is typically associated with slowly progressive psychomotor regression, seizures, and movement disorders. Although leukoencephalopathy with calcifications and cysts affects only the central nervous system, it demonstrates remarkable neuropathologic and radiologic overlap with Coats plus, a disorder of small vessels of the brain, eyes, gastrointestinal tract, and bone...
March 23, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28424010/olfactory-development-part-1-function-from-fetal-perception-to-adult-wine-tasting
#15
Harvey B Sarnat, Laura Flores-Sarnat, Xing-Chang Wei
Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also documented by late prenatal and postnatal MRI. Olfactory axons project from nasal epithelium to telencephalon before olfactory bulbs form. Fetal olfactory maturation remains incomplete at term for neuronal differentiation, synaptogenesis, myelination, and persistence of the transitory fetal ventricular recess...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28424008/olfactory-development-part-2-neuroanatomic-maturation-and-dysgeneses
#16
Harvey B Sarnat, Laura Flores-Sarnat
Olfactory axons project from nasal epithelium to the primitive telencephalon before olfactory bulbs form. Olfactory bulb neurons do not differentiate in situ but arrive via the rostral migratory stream. Synaptic glomeruli and concentric laminar architecture are unlike other cortices. Fetal olfactory maturation of neuronal differentiation, synaptogenesis, and myelination remains incomplete at term and have a protracted course of postnatal development. The olfactory ventricular recess involutes postnatally but dilates in congenital hydrocephalus...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28422948/beyond-the-uterine-environment-nonhuman-primate-model-to-investigate-maternal-fetal-and-neonatal-outcomes-following-chronic-intrauterine-infection
#17
Meredith A Kelleher, Zheng Liu, Xiaojie Wang, Christopher D Kroenke, Lisa A Houser, Brandy L Dozier, Lauren D Martin, Ken B Waites, Cindy McEvoy, Robert L Schelonka, Peta L Grigsby
BACKGROUND: Intrauterine infection is a significant cause of early preterm birth. We have developed a fetal-neonatal model in the rhesus macaque to determine the impact of chronic intrauterine infection with Ureaplasma parvum on early neonatal reflexes and brain development. METHODS: Time-mated, pregnant rhesus macaques were randomized to be inoculated with U. parvum (serovar 1; 10(5)cfu) or control media at ~120 dGA. Neonates were delivered by elective hysterotomy at 135-147 dGA (term=167d) stabilized and cared for in our nonhuman primate neonatal intensive care unit...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422821/how-the-cognitive-reserve-interacts-with-%C3%AE-amyloid-deposition-in-mitigating-fdg-metabolism-an-observational-study
#18
Elena Carapelle, Laura Serra, Sergio Modoni, Michele Falcone, Carlo Caltagirone, Marco Bozzali, Luigi Maria Specchio, Carlo Avolio
This observational study had the aim to assess the interaction between cognitive reserve (CR) and cerebrospinal fluid β-amyloid1-42 (Aβ1-42) in modulating brain [18F]fluorodeoxyglucose positron emission tomography (FDG-PET) metabolism in patients with moderate Alzheimer disease (AD).Twenty-seven patients with probable AD and 25 neurological normal subjects (NNS) entered the study. All participants had an FDG-PET scan, and AD patients also received a lumbar puncture to measure Aβ1-42, 181p-tau, and Tau concentrations...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28420838/factors-associated-with-pneumonia-caused-death-in-older-adults-with-autopsy-confirmed-dementia
#19
Toshie Manabe, Katsuyoshi Mizukami, Hiroyasu Akatsu, Yoshio Hashizume, Takayoshi Ohkubo, Koichiro Kudo, Nobuyuki Hizawa
Objective A better understanding of risk factors for pneumonia-caused death may help to improve the clinical management of dementia. Methods A retrospective observational study was conducted by reviewing the medical charts and autopsy reports of 204 patients who were admitted to hospital, underwent a post-mortem examination, and who were neuropathologically diagnosed with dementia. The risk factors for pneumonia-caused death were examined both as underlying and immediate causes of death using logistic regression models...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28419634/contrast-enhanced-ultrasound-and-elastography-imaging-of-the-neonatal-brain-a-review
#20
REVIEW
Christopher Bailey, Thierry A G M Huisman, Robert M de Jong, Misun Hwang
Neonates presenting with neurologic symptoms require rapid, noninvasive imaging with high spatial resolution and tissue contrast. Magnetic resonance imaging (MRI) is currently the most sensitive and specific imaging modality for evaluation of neurological pathology. This modality does come with several challenges in the neonatal population, namely, the need to transport a possibly critically sick neonate to the MRI suite and the necessity of the neonate to remain still for a significant length of time, occasionally requiring sedation...
April 17, 2017: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
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