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Functional neurological

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https://www.readbyqxmd.com/read/29150919/a-focus-on-the-beneficial-effects-of-alpha-synuclein-and-a-re-appraisal-of-synucleinopathies
#1
Larisa Ryskalin, Carla L Busceti, Fiona Limanaqi, Francesca Biagioni, Stefano Gambardella, Francesco Fornai
Alpha synuclein (α-syn) belongs to a class of proteins which are commonly considered to play a detrimental role in neuronal survival. This assumption is based on the occurrence of a severe neuronal degeneration in patients carrying a multiplication of the α-syn gene (SNCA) and in a variety of experimental models, where overexpression of α-syn leads to cell death and neurological impairment. In these conditions, a higher amount of normally structured α-syn produces a damage, which is even worse compared with that produced by α-syn owing an abnormal structure (as occurring following point gene mutations)...
November 16, 2017: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/29149697/characteristics-of-motor-speech-phenotypes-in-multiple-sclerosis
#2
Jan Rusz, Barbora Benova, Hana Ruzickova, Michal Novotny, Tereza Tykalova, Jan Hlavnicka, Tomas Uher, Manuela Vaneckova, Michaela Andelova, Klara Novotna, Lucie Kadrnozkova, Dana Horakova
BACKGROUND: Motor speech disorders in multiple sclerosis (MS) are poorly understood and their quantitative, objective acoustic characterization remains limited. Additionally, little data regarding relationships between the severity of speech disorders and neurological involvement in MS, as well as the contribution of pyramidal and cerebellar functional systems on speech phenotypes, is available. METHODS: Speech data were acquired from 141 MS patients with Expanded Disability Status Scale (EDSS) ranging from 1 to 6...
November 8, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29149600/repair-of-uv-induced-dna-damage-independent-of-nucleotide-excision-repair-is-masked-by-mutyh
#3
Abdelghani Mazouzi, Federica Battistini, Sarah C Moser, Joana Ferreira da Silva, Marc Wiedner, Michel Owusu, Charles-Hugues Lardeau, Anna Ringler, Beatrix Weil, Jürgen Neesen, Modesto Orozco, Stefan Kubicek, Joanna I Loizou
DNA lesions caused by UV damage are thought to be repaired solely by the nucleotide excision repair (NER) pathway in human cells. Patients carrying mutations within genes functioning in this pathway display a range of pathologies, including an increased susceptibility to cancer, premature aging, and neurological defects. There are currently no curative therapies available. Here we performed a high-throughput chemical screen for agents that could alleviate the cellular sensitivity of NER-deficient cells to UV-induced DNA damage...
November 16, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29148269/salidroside-attenuates-neuroinflammation-and-improves-functional-recovery-after-spinal-cord-injury-through-microglia-polarization-regulation
#4
Chenggui Wang, Qingqing Wang, Yiting Lou, Jianxiang Xu, Zhenhua Feng, Yu Chen, Qian Tang, Gang Zheng, Zengjie Zhang, Yaosen Wu, Naifeng Tian, Yifei Zhou, Huazi Xu, Xiaolei Zhang
Spinal cord injury (SCI) is a severe neurological disease; however, few drugs have been proved to treat SCI effectively. Neuroinflammation is the major pathogenesis of SCI secondary injury and considered to be the therapeutic target of SCI. Salidroside (Sal) has been reported to exert anti-inflammatory effects in airway, adipose and myocardial tissue; however, the role of Sal in SCI therapeutics has not been clarified. In this study, we showed that Sal could improve the functional recovery of spinal cord in rats as revealed by increased BBB locomotor rating scale, angle of incline, and decreased cavity of spinal cord injury and apoptosis of neurons in vivo...
November 17, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29147631/automated-whole-brain-tractography-affects-preoperative-surgical-decision-making
#5
Hesham Zakaria, Sameah Haider, Ian Lee
Surgery in and around eloquent brain structures poses a technical challenge when the goal of surgery is maximal safe resection. Magnetic resonance imaging (MRI) has revolutionized the diagnosis and treatment of neurological disorders, but tractography still remains limited in terms of utility because of the requisite manual labor and time required combined with the high risk of bias and inaccuracy. Automated whole brain tractography (AWBT) has simplified this workflow, overcoming historical barriers, and allowing for integration into modern neuronavigation...
September 6, 2017: Curēus
https://www.readbyqxmd.com/read/29146880/optogenetic-inhibition-of-striatal-gabaergic-neuronal-activity-improves-outcomes-after-ischemic-brain-injury
#6
Lu Jiang, Wanlu Li, Muyassar Mamtilahun, Yaying Song, Yuanyuan Ma, Meijie Qu, Yifan Lu, Xiaosong He, Jieyu Zheng, Zongjie Fu, Zhijun Zhang, Guo-Yuan Yang, Yongting Wang
BACKGROUND AND PURPOSE: Striatal GABAergic neuron is known as a key regulator in adult neurogenesis. However, the specific role of striatal GABAergic neuronal activity in the promotion of neurological recovery after ischemic stroke remains unknown. Here, we used optogenetic approach to investigate these effects and mechanism. METHODS: Laser stimulation was delivered via an implanted optical fiber to inhibit or activate the striatal GABAergic neurons in Gad2-Arch-GFP or Gad2-ChR2-tdTomato mice (n=80) 1 week after 60-minute transient middle cerebral artery occlusion...
November 16, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29146700/phenotypic-spectrum-of-children-with-nephronophthisis-and-related-ciliopathies
#7
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#8
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29145497/rare-genetic-variants-in-the-endocannabinoid-system-genes-cnr1-and-dagla-are-associated-with-neurological-phenotypes-in-humans
#9
Douglas R Smith, Christine M Stanley, Theodore Foss, Richard G Boles, Kevin McKernan
Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants...
2017: PloS One
https://www.readbyqxmd.com/read/29145428/abnormal-brain-white-matter-microstructure-is-associated-with-both-pre-hypertension-and-hypertension
#10
Hideaki Suzuki, He Gao, Wenjia Bai, Evangelos Evangelou, Ben Glocker, Declan P O'Regan, Paul Elliott, Paul M Matthews
OBJECTIVES: To characterize effects of chronically elevated blood pressure on the brain, we tested for brain white matter microstructural differences associated with normotension, pre-hypertension and hypertension in recently available brain magnetic resonance imaging data from 4659 participants without known neurological or psychiatric disease (62.3±7.4 yrs, 47.0% male) in UK Biobank. METHODS: For assessment of white matter microstructure, we used measures derived from neurite orientation dispersion and density imaging (NODDI) including the intracellular volume fraction (an estimate of neurite density) and isotropic volume fraction (an index of the relative extra-cellular water diffusion)...
2017: PloS One
https://www.readbyqxmd.com/read/29145322/ptosis-as-the-only-manifestation-of-diabetic-superior-division-oculomotor-nerve-palsy-a-case-report
#11
Ping-Yin Chou, Kun-Han Wu, Poyin Huang
RATIONALE: Diabetic oculomotor nerve palsies, also called ischemic third nerve palsies, are the most common etiologic subset of oculomotor nerve palsy in adults. Diabetic oculomotor nerve palsies typically present with ptosis and diplopia, but pupillary function is often spared. The oculomotor nerve separates into superior division and inferior division, with the superior division innervating the superior rectus and levator palpebrae superioris. The diabetic oculomotor nerve palsy may affect isolated superior or inferior division of the oculomotor nerve, but diplopia usually exists...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145287/transforaminal-endoscopy-in-lumbar-burst-fracture-a-case-report
#12
Yuanyi Wang, Cong Ning, Liyu Yao, Xiuying Huang, Chengliang Zhao, Bin Chen, Nan Zhang
RATIONALE: Lumbar burst fractures are frequent injury resulting from high-energy trauma, and the patients suffer from pain and the neurologic dysfunction. Although minimally invasive techniques have advanced rapidly, it was the first time to apply transforaminal endoscopic combined with percutaneous pedicle screw fixation to treatment of lumbar burst fractures. PATIENT CONCERNS: A 33-year-old man underwent Magerl type A3.1 burst fracture at L2 and compression fractures at L3 due to falling from a height with severe lower back pain, sensory loss, and atony of the right leg...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145285/degeneration-of-paramedian-nuclei-in-the-thalamus-induces-holmes-tremor-in-a-case-of-artery-of-percheron-infarction
#13
Tz-Shiang Wei, Chun-Sheng Hsu, Yu-Chun Lee, Shin-Tsu Chang
RATIONALE: Holmes' tremor is an uncommon neurologic disorder following brain insults, and its pathogenesis is undefined. The interruption of the dento-rubro-thalamic tract and secondary deterioration of the nigrostriatal pathway are both required to initiate Holmes' tremor. We used nuclear medicine imaging tools to analyze a patient with concurrent infarction in different zones of each side of the thalamus. Finding whether the paramedian nuclear groups of the thalamus were injured was a decisive element for developing Holmes' tremor...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145183/catastrophe-reaction-and-emotionalism
#14
Antonio Carota, Julien Bogousslavsky
The catastrophic reaction (CR; a disruptive and uncontrolled behavior triggered by anger, irritability, and hostility) and emotionalism (a condition of uncontrolled crying or laughing) are disorders of the emotional regulation and expression, the prevalence of which is underestimated in neurology. Their occurrence is an additional factor of poor outcome for neurologic patients. Although they have been recognized and completely described in their clinical manifestations more than a century ago, many issues remain unsolved regarding their pathogenesis and the respective role of the brain damage and psychological factors...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145182/pathological-yawning-laughing-and-crying
#15
Olivier Walusinski
Yawning, laughing, and crying are normal physiological behaviors of humans in good health. As with all physiological behaviors, their deregulation can reveal disorders. Pathological yawning occurs in salvos of 10-20 successive yawns, and the number of yawns per day can exceed one hundred. After listing the functional etiologies, we will give the clinical keys for differentiating the most serious causes: iatrogenic, tumors, strokes, amyotrophic lateral sclerosis, and intracranial hypertension. Sudden, uncontrollable episodes of emotional display involving pathological laughing and crying (PLC) may be encountered in various neurological diseases: amyotrophic lateral sclerosis, multiple system atrophy (cerebellar), cerebrovascular disease, traumatic brain injuries, mass lesions in the cerebellopontine junction, and epilepsy...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145178/minor-hemisphere-major-syndromes
#16
Antonio Carota, Julien Bogousslavsky
A right "minor hemisphere" does not exist as the right hemisphere is dominant for awareness (nosognosia), spatial attention, emotional regulation, facial and voice expressions, visual recognition, and topographical orientation. Without the right hemisphere, the world would be flat, deprived of general and spatial attentions, pointing preferentially to the right side of the space, lacking visual experiences and emotions, exhibiting diminished awareness of the self and environment. Clinical-related syndromes of the right hemisphere are unilateral spatial neglect, object and face visual agnosia, the anosognosia for hemiparesis and/or hemianopia, misidentification syndromes, mania, and other obsessions for the food and the body...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145032/intravenous-immunoglobulin-improves-glucose-control-and-%C3%AE-cell-function-in-human-iapp-transgenic-mice-by-attenuating-islet-inflammation-and-reducing-iapp-oligomers
#17
Yue Zhang, Xiao-Lin Yu, Jie Zhu, Shu-Ying Liu, Xiang-Meng Liu, Quan-Xiu Dong, Jia-Qian Chai, Rui-Tian Liu
Type 2 diabetes mellitus (T2DM) is a metabolic disorder characterized by β-cell loss, insulin resistance, islet inflammation and amyloid deposits derived from islet amyloid polypeptide (IAPP). Reducing toxic IAPP oligomers and inhibiting islet inflammation may provide therapeutic benefit in treating T2DM. Intravenous immunoglobulin (IVIg) is an efficient anti-inflammatory and immunomodulatory agent for the treatment of several autoimmune or inflammatory neurological diseases. However, whether IVIg has therapeutic potential on T2DM remains unclear...
November 13, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/29144106/cognitive-reserve-as-a-variable-impacting-the-effectiveness-of-rehabilitation-on-balance-in-parkinson-s-disease
#18
Giulia Piccinini, Isabella Imbimbo, Diego Ricciardi, Daniele Coraci, Claudia Santilli, Maria R Lo Monaco, Claudia Loreti, Maria C Vulpiani, Maria C Silveri, Luca Padua
BACKGROUND: Cognitive reserve (CR) can be considered an active expression of brain resilience in response to damage. Several studies have shown the influence of CR on cognitive impairment and its relationship with cognitive function in Parkinson's disease (PD). AIM: To show if CR influences the effectiveness of balance rehabilitation in PD patients who performed a conventional rehabilitative treatment. DESIGN: Observational longitudinal study...
November 16, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29143206/characteristics-of-two-distinct-clinical-phenotypes-of-functional-psychogenic-dystonia-follow-up-study
#19
Igor N Petrović, Aleksandra Tomić, Marija Mitković Vončina, Danilo Pešić, Vladimir S Kostić
BACKGROUND: The fixed dystonia phenotype was originally established as a prototype of functional dystonia. Nevertheless, in recent reports different functional dystonia phenotypes have been recognized with dystonic movement comprising phasic instead of tonic contraction. OBJECTIVES: To examine clinical characteristic in all patients with dystonia who fulfilled the criteria for functional movement disorders irrespective of phenotype in an attempt to determine parameters of clinical presentations that might impact the disease progression pattern and outcome...
November 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29141478/utility-of-quick-oculomotor-tests-for-screening-the-vestibular-system-in-the-subacute-and-chronic-populations
#20
Helen S Cohen, Jasmine Stitz, Haleh Sangi-Haghpeykar, Susan P Williams, Ajitkumar P Mulavara, Brian T Peters, Jacob J Bloomberg
OBJECTIVE: The goal of this study was to determine the sensitivity and specificity of some widely used, easily administered clinical tests. BACKGROUND: Simple tests of oculomotor function have become widely used for clinical screening of patients suspected of having vestibular disorders despite a paucity of evidence showing good statistical support for their use in this highly variable population. METHODS: Healthy controls with no history of otologic or neurologic disorders (n = 291) were compared to patients with known vestibular disorders (n = 62)...
November 16, 2017: Acta Oto-laryngologica
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