Editorial |
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Alan R. Schwartz
Obstructive sleep apnea is characterized by recurrent periods of upper airway obstruction (apneas and hypopneas) during sleep, leading to nocturnal hypercapnia, repeated oxyhemoglobin desaturations and arousals [1]. It is a highly prevalent condition affecting 4 to 24% of men and 2 to 9% of women, and well over 50% of obese individuals [2–6]. Obstructive sleep apnea is a major cause of morbidity and mortality in Western society [7–11], and contributes significantly to the development and progression of neurocognitive, metabolic, cardiovascular, and oncologic diseases [2,8,12–21].
Jeanie McGee, Alireza Minagar
Multiple sclerosis (MS) is presumably an immune-mediated and degenerative disease of human central nervous system, which usually affects the younger individuals and leads to permanent disability. While the cause and cure for MS remain unrecognized, many neurologists and neuroscientists attempt to explain the diverse nature of its clinical presentations and natural history by establishing clinical classifications. The present classification of MS into four main clinical types is far from perfect and has left the clinicians with many unanswered questions.
Xingzhi Guo, Peng Tang, Peng Liu, Yue Liu, Chen Hou, Rui Li
The aim of this study is to evaluate the association between two neprilysin variants (rs989692 and rs3736187) and Alzheimer's disease (AD).
Sasan Andalib, Manouchehr Seyedi Vafaee, Albert Gjedde
Parkinson's disease (PD) is a common disorder of the central nervous system in the elderly. The pathogenesis of PD is a complex process, with genetics as an important contributing factor. This factor may stem from mitochondrial gene variations and mutations as well as from nuclear gene variations and mutations. More recently, a particular role of mitochondrial dysfunction has been suggested, arising from mitochondrial DNA variations or acquired mutations in PD pathogenesis. The present review summarizes and weighs the evidence in support of mitochondrial DNA (mtDNA) variations as important contributors to the development and course of PD.
Carlos R. Camara-Lemarroy, Beatriz E. Ibarra-Yruegas, Fernando Gongora-Rivera
Ischemic stroke is an important cause of morbidity and mortality, and currently the leading cause of adult disability in developed countries. Stroke is associated with various non-neurological medical complications, including infections and thrombosis. Gastrointestinal complications after stroke are also common, with over half of all stroke patients presenting with dysphagia, constipation, fecal incontinence or gastrointestinal bleeding. These complications are associated with increased hospital length of stay, the development of further complications and even increased mortality.
Rajesh Verma, Ritesh Sahu, Vikram Holla
Dengue is a common arboviral infection in tropical and sub-tropical areas of the world transmitted by Aedes mosquitoes and caused by infection with one of the 4 serotypes of dengue virus. Neurologic manifestations are increasingly recognised but the exact incidence is unknown. Dengue infection has a wide spectrum of neurological complications such as encephalitis, myositis, myelitis, Guillain–Barré syndrome (GBS) and mononeuropathies. Encephalopathy is the most common reported complication. In endemic regions, dengue infection should be considered as one of the aetiologies of encephalitis.
Francesca Porro, Paola Rinchetti, Francesca Magri, Giulietta Riboldi, Monica Nizzardo, Chiara Simone, Chiara Zanetta, Irene Faravelli, Stefania Corti
Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal–muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin μ-binding protein. SMARD1 patients usually present low birth weight, diaphragmatic palsy and distal muscular atrophy. Clinical features are still the most important factor that leads to the diagnosis of SMARD1, due to the fact that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity.
Lana Zhovtis Ryerson, Joseph Herbert, Jonathan Howard, Ilya Kister
Adult-onset, chronic progressive spastic paraparesis may be due to a large number of causes and poses a diagnostic challenge. There are no recent evidence-based guidelines or comprehensive reviews to help guide diagnostic work-up. We survey the literature on chronic progressive spastic paraparesis, with special emphasis on myelopathies, and propose a practical, MRI-based approach to facilitate the diagnostic process. Building on neuro-anatomic and radiographic conventions, we classify spinal MRI findings into six patterns: extradural; intradural/extramedullary; Intramedullary; Intramedullary-Tract specific; Spinal Cord Atrophy; and Normal Appearing Spinal Cord.
Original Articles |
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De-shui Yu, Yang Cao, Xi-fan Mei, Yan-feng Wang, Zhong-kai Fan, Yan-song Wang, Gang Lv
Previous studies have shown that curcumin (Cur) can produce potent neuroprotective effects against damage due to spinal cord injury (SCI). However, whether Cur can preserve the function of the blood–spinal cord barrier (BSCB) is unclear. The present study was performed to investigate the mechanism underlying BSCB permeability changes, which were induced by treatment with Cur (75, 150, and 300 mg/kg, i.p.) after compressive SCI in rats. BSCB permeability was evaluated by Evans blue leakage. Motor recovery of rats with SCI was assessed using the Basso, Beattie, and Bresnahan scoring system every day until the 21st days post-injury.
Cristiana Borges Pereira, Aline Kozoroski Kanashiro, Fernanda Martins Maia, Egberto Reis Barbosa
Perception of verticality is essential for postural control. On the other hand, postural instability is one of the cardinal features in Parkinson's disease (PD). Thus, the objective of this study was to evaluate the vertical perception using the subjective visual vertical test in PD patients with different degrees of postural instability and in different stages of disease. Forty five idiopathic PD patients were evaluated using the Unified Parkinson's Disease Rating Scale (UPDRS), the Hoehn and Yahr Scale, the clinical test for postural instability, and the subjective visual vertical test.
Eve E. Kelland, Wendy Gilmore, Liat Hayardeny, Leslie P. Weiner, Brett T. Lund
Laquinimod is an orally active immunomodulatory small molecule that has shown clear clinical benefit in trials for relapsing–remitting multiple sclerosis and in experimental rodent models that emulate multiple sclerosis (MS). Studies in healthy mice, and in mice with experimental autoimmune encephalomyelitis, have demonstrated that laquinimod is capable of entering the central nervous system. It is therefore important to determine if laquinimod is capable of a direct influence on basic functions of neural stem cells (NSC) or oligodendrocyte progenitor cells (OPC)—cells critical for myelin repair in MS.
Takahiro Furukawa, Naoko Matsui, Koji Fujita, Ai Miyashiro, Hiroyuki Nodera, Yuishin Izumi, Fumitaka Shimizu, Katsuichi Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki, Ryuji Kaji
Multifocal motor neuropathy (MMN) is characterized by clinical improvement with intravenous immunoglobulin and the frequent detection of anti-ganglioside antibodies. However, the immunological background of the neuronal damage in MMN is still unclear.
I. Basta, T. Pekmezovic, S. Peric, A. Nikolic, V. Rakocevic-Stojanovic, Z. Stevic, I. Marjanovic, D. Lavrnic
Myasthenia gravis (MG) may be associated with extrathymic malignancies, especially in patients with thymoma.
J. De Reuck, V. Deramecourt, F. Auger, N. Durieux, C. Cordonnier, D. Devos, L. Defebvre, C. Moreau, D. Caparros-Lefebvre, R. Bordet, C.A. Maurage, F. Pasquier, D. Leys
Until recently cortical microinfarcts (CMIs) were considered as the invisible lesions in clinical–radiological correlation studies that rely on conventional structural magnetic resonance imaging. The present study investigates the presence of CMIs on 7.0-T magnetic resonance imaging (MRI) in post-mortem brains with different neurodegenerative and cerebrovascular diseases.
Shiu-Dong Chung, Jau-Jiuan Sheu, Li-Ting Kao, Herng-Ching Lin, Jiunn-Horng Kang
Cognitive derangement and neurological symptoms are observed in patients with anemia. Although it is still controversial, a few studies suggested that anemia may increase the risk of dementia. This study aimed to explore the association between iron-deficiency anemia (IDA) and dementia in a population-based case–control study. We retrieved our study sample from the Taiwan Longitudinal Health Insurance Database 2000. We extracted 8300 subjects with a diagnosis of dementia and 8300 age- and gender-matched controls.
Tan Zhang, Yinyan Wang, Xing Fan, Jun Ma, Shaowu Li, Tao Jiang, Lei Wang
Accumulating evidence has suggested that tumor location is linked to the genetic profile of gliomas. Therefore, the aim of this study was to investigate the anatomical characteristics of p53-mutated glioblastomas. We also sought to provide new insight into the possible niche locations of cells of glioblastoma origin. In order to accomplish this, preoperative magnetic resonance images from 163 patients with primary glioblastomas were retrospectively analyzed. All tumors were manually marked and registered to the standard space.
J.P. Stellmann, E. Vettorazzi, J. Poettgen, C. Heesen
Mobility assessment in Multiple Sclerosis (MS) is crucial for trials and individual patient counseling. Up to now, standard tests as the Timed 25-Foot Walk (T25FW) are restricted by floor effects in mildly disabled patients. The 3-meter Timed Tandem Walk (TTW) as a possibly more sensitive measure has not been investigated yet.
Dan Wang, Jiuhan Zhao, Jian Wang, Jingqing Li, Shengyuan Yu, Xinjin Guo
The midbrain periaqueductal gray (PAG) is a substantial component of the descending modulatory network to control on nociceptive transmission and autonomic functions. Also, accumulated evidence has suggested that the PAG plays a crucial role in regulating migraine headache, a neurovascular disorder. The purpose of this study was to employ ELISA methods to examine the levels of prostaglandin E2 (PGE2) and calcitonin-gene related peptide (CGRP) in the PAG of rats who received ovariectomy and subsequent hormone replacement with 17β-estradiol, progesterone, or the combination of 17β-estradiol and progesterone.
Mun Kyung Sunwoo, Jin Yong Hong, Ji E. Lee, Hye Sun Lee, Phil Hyu Lee, Young H. Sohn
Dysphonia is common in Parkinson's disease (PD), but the mechanism underlying the development remains unclear. This study investigated possible clinical factors related to PD dysphonia.
Virgilio Gerald H. Evidente, Daniel Truong, Joseph Jankovic, Cynthia L. Comella, Susanne Grafe, Angelika Hanschmann
Typically, botulinum toxin injections for blepharospasm or cervical dystonia (CD) are administered at approximately 3-month intervals, reflecting concerns that shorter intervals might increase the risk of adverse events (AEs) and development of neutralizing antibodies. These post-hoc analyses investigated flexible incobotulinumtoxinA (Xeomin®) injection intervals (6–20 weeks) in patients with blepharospasm or CD. Patients received up to 6 injections at intervals ≥6 weeks, as determined by physician assessment upon patient request.
Clemens Burtscher, Arlette Baxmann, Jan Kassubek, Magdolna Hornyak, William Matuja, Erich Schmutzhard, Andrea S. Winkler
Restless legs syndrome (RLS) is one of the most common neurological disorders in Caucasian populations with prevalence rates between 5% and 15%. A recent study conducted in rural northern Tanzania documented a prevalence of only 0.013%. This result requires further investigation of the epidemiology of RLS in Africa, as prevalence rates seem to vary among different ethnicities.
Elhachmia Ait Ben Haddou, Mounia Alhyan, Jehanne Aasfara, Wafa Regragui, Azeddine Ibrahimi, Rachid Razine, Redouane Abouqal, Ali Benomar, Mohamed Yahyaoui
5% of multiple sclerosis have their onset in childhood.
Hiroko Hori, Satoshi Yamashita, Nozomu Tawara, Tomoo Hirahara, Kensuke Kawakami, Tomo Nishikami, Yasushi Maeda, Yukio Ando
De-Sheng Zhu, Jue Fu, Yue Zhang, Shi-Xu Li, Guang-Xian Zhang, Yang-Tai Guan, Qiang Dong
Neurological antiphospholipid syndrome (NAPS) is often misdiagnosed or missed. Only limited clinical and neuroimaging information about it is available, and the pathological characteristics was rarely reported before. This study aimed to explore the clinical, neuroimaging, and pathological characteristics of NAPS.
Peiyu Huang, Xiaojun Xu, Quanquan Gu, Min Xuan, Xinfeng Yu, Wei Luo, Minming Zhang
Depression is a common occurrence in patients with Parkinson's disease (PD), however, its pathophysiology still remains unclear. With increasing evidence suggesting that depression is a disconnection syndrome, we hypothesized that depression in PD is caused by degenerated fiber connections in the brain. We examined whole brain white matter integrity in 15 depressed PD patients and 15 non-depressed PD patients. All the patients were assessed with the Unified Parkinson's Disease Rating Scale, the Hamilton Rating Scale for Depression, and the Mini-Mental State Examination.
Michelle Marneweck, Geoff Hammond
We investigated the link between the ability to perceive facial expressions of emotion and the ability to perceive visual form in Parkinson's disease (PD). We assessed in individuals with PD and healthy controls the ability to discriminate graded intensities of facial expressions of anger from neutral expressions and the ability to discriminate radial frequency (RF) patterns with modulations in amplitude from a perfect circle. Those with PD were, as a group, impaired relative to controls in discriminating graded intensities of angry from neutral expressions and discriminating modulated amplitudes of RF patterns from perfect circles; these two abilities correlated positively and moderately to highly, even after removing the variance that was shared with disease progression and general cognitive functioning.
Ana Paula Kallaur, Sayonara Rangel Oliveira, Andréa Name Colado Simão, Elaine Regina Delicato de Almeida, Helena Kaminami Morimoto, Daniela Frizon Alfieri, Wildea Lice de Carvalho Jennings Pereira, Sueli Donizete Borelli, Damácio Ramon Kaimen-Maciel, Michael Maes, Edna Maria Vissoci Reiche
To evaluate the association between the tumor necrosis factor beta (TNF-β) NcoI polymorphism and inflammatory and metabolic markers in patients with multiple sclerosis (MS) patients and the association of these markers with disease disability, a 782 base-pair fragment of the TNF-β gene was amplified from genomic DNA and digested with the NcoI restriction enzyme. The serum levels of numerous cytokines (IL-1β, IL-12, IL-6, TNF-α, IFN-γ, IL-4, IL-10, and IL-17) serum lipid levels, plasma insulin levels, and the Homeostasis Model Assessment—Insulin Resistance (HOMA-IR) levels were evaluated in 123 female and 43 male patients with MS.
Robert W. Figliozzi, Feng Chen, Matthew Balish, Amakoe Ajavon, S. Victor Hsia
A global HSV-1 gene repression occurs during latency in sensory neurons where most viral gene transcriptions are suppressed. The molecular mechanisms of gene silencing and how stress factors trigger the reactivation are not well understood. Thyroid hormones are known to be altered due to stress, and with its nuclear receptor impart transcriptional repression or activation depending upon the hormone level. Therefore we hypothesized that triiodothyronine (T3) treatment of infected differentiated neuron like cells would reduce the ability of HSV-1 to produce viral progeny compared to untreated infected cells.
Kyoung-Eun Kim
A brachial plexus lesion is not common in hereditary neuropathy with liability to pressure palsy (HNPP). We report the clinical and electrodiagnostic features of young soldiers with HNPP presenting with brachial plexopathy. By reviewing 2 year medical records from Korean military hospitals, we identified soldiers with brachial plexus lesions. Among them, patients diagnosed with HNPP were determined and clinical and electrophysiological findings were compared between HNPP and non-HNPP patients with a brachial plexus lesion.
Paul M. Meadows, Mark C. Whitehead, Faisal N. Zaidi
Laboratory rats were acutely implanted with an electrode array composed of eight independently controllable contacts applied to ventral and dorsal aspects of the left and right hypoglossal nerves (HGNs) and their branches. Bipolar intramuscular electromyographic (EMG) electrodes were implanted into the left and right genioglossus, hyoglossus and styloglossus muscles to identify which muscles were activated during stimulation via the contacts. Elicited movements, including changes in the position of the tongue and in the size and the shape of the airway, were documented video-graphically through a surgery microscope and an endoscope.
Ausiliatrice Lucenti, Stefania Galimberti, Nadia Barizzone, Paola Naldi, PROGEMUS Group, PROGRESSO Group, Giancarlo Comi, Filippo Martinelli Boneschi, Sandra D'Alfonso, Maurizio A. Leone
Month of birth has been associated in some studies with the susceptibility to develop Multiple Sclerosis (MS). However, only few studies have evaluated whether birth timing also affects disease progression.
Wei Guo, Xu-Ying He, Xi-Feng Li, Dong-Xiang Qian, Jian-Quan Yan, De-Lin Bu, Chuan-Zhi Duan
Imaging methods are essential in evaluating cerebral artery aneurysms and they have evolved with recent technical advances. Sixty-four-row multi-section computed tomography (64-MSCT) angiography and three-dimensional digital subtraction angiography (3D-DSA) are two of the most popular methods. We sought to systematically explore and find out which one would be better in imaging cerebral artery aneurysm, and try to investigate the potential use and value of 64-MSCT angiography and 3D-DSA in cerebral artery aneurysm.
Ari Ylikoski, Kirsti Martikainen, Markku Partinen
Sleep disorders are among the most common non-motor symptoms in Parkinson's disease.
Mitsuru Hanada, Koji Tsutsumi, Hideyuki Arima, Ryuichi Shinjo, Yuki Sugiura, Shiro Imagama, Naoki Ishiguro, Yukihiro Matsuyama
Glial and fibrotic scars inhibit neural regeneration after spinal cord injury (SCI). N-[3,4-dimethoxycinnamoyl]-anthranilic acid (tranilast) inhibits transforming growth factor β, alleviates allergic reactions, and decreases hypertrophic skin scars. We evaluated its ability to improve motor function and inhibit the spread of tissue damage in rats with SCI.
Lina Gao, Shaodan Zhou, Haowei Cai, Zhongying Gong, Dawei Zang
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disorder involving both upper and lower motor neurons in the cerebral cortex, brainstem and spinal cord. Vascular endothelial growth factor (VEGF) was originally described as a factor with a regulatory role in vascular growth and development, and now it also functions as a neurotrophic factor protecting motoneurons from insults such as oxidative stress, hypoxia and glutamate-excitotoxicity, but the role of VEGF in ALS is still unclear.
Melissa A. Goddard, Emily Burlingame, Alan H. Beggs, Anna Buj-Bello, Martin K. Childers, Anthony P. Marsh, Valerie E. Kelly
X-linked myotubular myopathy (XLMTM) is a fatal pediatric disease where affected boys display profound weakness of the skeletal muscles. Possible therapies are under development but robust outcome measures in animal models are required for effective translation to human patients. We established a naturally-occurring canine model, where XLMTM dogs display clinical symptoms similar to those observed in humans. The aim of this study was to determine potential endpoints for the assessment of future treatments in this model.
Mangsuo Zhao, Liyan Qiao, Jie Shi, Fangjie Huang, Mingjie Zhang, Xianzhong Lin, Jing Wang, Tongchao Geng, Huancong Zuo
The cerebrospinal fluid (CSF) shows inflammatory changes in patients with idiopathic hypertrophic pachymeningitis (IHP), which is a rare disorder. However, systemic CSF research including immunoglobulins in patients with IHP are substantially lacking. In the study, clinical, laboratory, neuroradiologic and therapeutic data from 9 patients with IHP were retrospectively studied, and CSF changes were analyzed. Intracranial pressure was elevated in 4 patients. Protein levels in CSF were elevated in 5 patients (<1 g/L).
Lívia Maria Pala Anselmo, Fernando Crivelenti Vilar, José Eduardo Lima, Aparecida Yule Yamamoto, Valdes Roberto Bollela, Osvaldo Massaiti Takayanagui
The objective of the present study was to assess the performance and the best indication of the polymerase chain reaction (PCR) for the detection of Toxoplasmosis gondii DNA in cerebrospinal fluid (CSF) from patients with suspected neurotoxoplasmosis. CSF samples were collected from 79 patients for amplification of the T. gondii genome (gene B1) by two PCR techniques (nested and real time). Twenty-seven of the 79 patients were classified as probable cases of neurotoxoplasmosis on the basis of clinical criteria, neuroimaging and therapeutic response.
Katharina Erb-Eigner, Georg Bohner, Oender Goektas, Lutz Harms, Franca Holinski, Felix Alexander Schmidt, Bettina Dahlslett, Esther Dommes, Patrick Asbach, Lutz Lüdemann
To investigate diffusion tensor abnormalities, e.g. fractional anisotropy (FA), mean diffusivity (MD), and radial diffusivity (RD), in olfactory structures of multiple sclerosis (MS) patients using diffusion tensor imaging (DTI).
Rufus O. Akinyemi, Louise Allan, Mayowa O. Owolabi, Joshua O. Akinyemi, Godwin Ogbole, Akinlolu Ajani, Michael Firbank, Adesola Ogunniyi, Raj N. Kalaria
Sub-Saharan Africa faces a potential epidemic of non-communicable diseases including stroke and dementia but little is known about the burden of stroke-related cognitive dysfunction. We assessed the baseline profile and factors associated with vascular cognitive impairment (VCI) in stroke survivors participating in the Cognitive Function After STroke (CogFAST) Nigeria Study.
Shahamat Tauhid, Mohit Neema, Brian C. Healy, Howard L. Weiner, Rohit Bakshi
While disease categories (i.e. clinical phenotypes) of multiple sclerosis (MS) are established, there remains MRI heterogeneity among patients within those definitions. MRI-defined lesions and atrophy show only moderate inter-correlations, suggesting that they represent partly different processes in MS. We assessed the ability of MRI-based categorization of cerebral lesions and atrophy in individual patients to identify distinct phenotypes.
Ying-Fa Chen, Yu-Lung Tseng, Min-Yu Lan, Shun-Lon Lai, Chen-San Su, Jia-Shou Liu, Yung-Yee Chang
Vascular Parkinsonism (VP) is referred to as secondary Parkinsonian syndrome. It occurs with lacunar state or sub-cortical white matter micro-angiopathy and is highly associated with vascular risk factors and leukoaraiosis, also known as cerebral white matter lesions (WML). This study aimed to assess the prevalence of different vascular risk factors and WML in patients with VP, and their impact on clinical features. Sixty-two consecutive VP patients (70.2 ± 9.2 years) were evaluated for clinical severity using the Unified Parkinson's Disease Rating Scale (UPDRS).
Estela Natacha Brandt Busanello, Carolina Gonçalves Fernandes, Rafael Volter Martell, Vannessa Gonçalves Araujo Lobato, Stephen Goodman, Michael Woontner, Diogo Onofre Gomes de Souza, Moacir Wajner
The role of excitotoxicity on the neuropathology of glutaric acidemia type I (GA I) is still under debate. Therefore, in the present work, we evaluated glutamate uptake by brain slices and glutamate binding to synaptic membranes, as well as glutamine synthetase activity in cerebral cortex and striatum from glutaryl-CoA dehydrogenase deficient (Gcdh−/−) mice along development (7, 15, 30 and 60 days of life) in the hopes of clarifying this matter. We also tested the influence of glutaric acid (GA) added exogenously on these parameters.
Mauricio F. Farez, María E. Balbuena Aguirre, Francisco Varela, Alejandro A. Köhler, Vanesa Nagel, Jorge Correale
Multiple sclerosis is a complex disease in which genetic susceptibility plays a role and familial occurrence has long been recognized. To date, no studies of familial occurrence have been conducted in Argentina, a country with low to intermediate prevalence.
Mary A. Woo, Santosh K. Yadav, Paul M. Macey, Gregg C. Fonarow, Ronald M. Harper, Rajesh Kumar
Autonomic, pain, and neuropsychologic comorbidities appear in heart failure (HF), likely resulting from brain changes, indicated as loss of structural integrity and functional deficits. Among affected brain sites, the anterior insulae are prominent in serving major regulatory roles in many of the disrupted functions commonly seen in HF. Metabolite levels, including N-acetylaspartate (NAA), creatine (Cr), choline (Cho), and myo-inositol (MI), could indicate the nature of anterior insula tissue injury in HF.
Tomáš Veverka, Petr Hluštík, Pavel Hok, Pavel Otruba, Zbyněk Tüdös, Jana Zapletalová, Alois Krobot, Petr Kaňovský
Our aim was to use functional magnetic resonance imaging (fMRI) to compare brain activation changes due to botulinum toxin A (BoNT) application between two chronic stroke patient groups with different degree of weakness treated for upper limb spasticity.
Xiang Wang, Jin-xiu Chen, Qing Mao, Yan-hui Liu, Chao You
Intracranial pressure (ICP) is frequently elevated following aneurysmal subarachnoid hemorrhage (aSAH). In this prospective study, the factors associated with increased ICP and the relationship between ICP and the aSAH grade were evaluated.
Ryo Tokuchi, Nozomi Hishikawa, Tomoko Kurata, Kota Sato, Syoichiro Kono, Toru Yamashita, Kentaro Deguchi, Koji Abe
To identify clinical and demographic predictors for mild cognitive impairment (MCI) conversion to Alzheimer's disease (AD) or reversion to normal cognition, and sustained MCI.
Lei Chen, Cheng Du, Liang Wang, Chen Yang, Jia-rui Zhang, Nan Li, Yi Li, Xiao-dong Xie, Guo-dong Gao
Astrocytoma is the most common primary brain tumor and it is associated with poor prognosis. Accumulating evidences suggest that certain molecular abnormalities or genetic mutations are associated with its progression and prognosis. Human transcriptional coactivator 4 (PC4), originally identified as a transcriptional coactivator then as a DNA replication and repair factor has been shown to be involved in chromatin organization. Recently, it is reported to function both as tumor suppressor and promoter depending on the cellular settings.
Short Communication |
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Alaina Borden, David Wallon, Romain Lefaucheur, Stéphane Derrey, Damien Fetter, Marc Verin, David Maltête
An early and transient verbal fluency (VF) decline and impairment in frontal executive function, suggesting a cognitive microlesion effect may influence the cognitive repercussions related to subthalamic nucleus deep brain stimulation (STN-DBS).
Shin Hisahara, Takashi Matsushita, Mizuki Kitamura, Shinichi Mezawa, Michio Nonaka, Tomihiro Imai, Shun Shimohama
Neurological manifestations are common in patients with decompensated cirrhosis. The majority of these patients show hepatic encephalopathy or chronic acquired (non-Wilsonian) hepatocerebral degeneration (CAHD). They characteristically present with dysarthria, ataxia, involuntary movements, and altered mental status. Neuroradiological examination in patients with hepatic encephalopathy often shows abnormal signals in multiple regions of the brain, such as the pallidum, putamen, caudate nucleus, hemispheric white matter, and ventral midbrain.
Mercè Falip, Júlia Miró, Mar Carreño, Sònia Jaraba, Juan Luís Becerra, Núria Cayuela, Manuel Perez Maraver, Francesc Graus
(1) To determine the characteristics of seizures and/or epilepsy among patients with adult onset type 1 diabetes mellitus (T1DM), and (2) to determine glutamic acid decarboxylase antibody (antiGADab) titres and other autoimmune characteristics of T1DM patients with seizure and/or epilepsy.
Jeong-Ho Hong, Seong Joon Ahn, Se Joon Woo, Cheolkyu Jung, Jun Young Chang, Jin-Heon Chung, Moon-Ku Han
We report 2 cases of central retinal artery occlusion with concomitant ipsilateral cerebral infarction after cosmetic facial injections and a literature review. The 2 patients were two healthy women, in which cosmetic facial injections with autologous fat and filler were performed, respectively. The patients had no light perception at the final visit and their conditions led to memory retrieval disturbance in case 1 and right arm weakness, dysarthria, facial palsy, and ophthalmoplegia in case 2.
Esra Ozkan, Rahsan Gocmen, Mehmet Akif Topcuoglu, Ethem Murat Arsava
Blood-brain-barrier dysfunction is well known to accompany hypertensive posterior reversible encephalopathy syndrome (PRES) and is considered as the culprit of vasogenic edema and cerebral hemorrhage observed as part of this syndrome. An 84-year-old female was admitted with a diagnosis of PRES in the setting of malignant hypertension. The clinical course was further complicated by ischemic stroke and seizures. Contrast enhanced fluid attenuated inversion recovery (FLAIR) studies revealed diffuse enhancement within the subarachnoid space extending to regions without evidence of cytotoxic or vasogenic edema.
Ilona Eliasova, Lubomira Anderkova, Radek Marecek, Irena Rektorova
Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive tool for modulating cortical activity.
Hiroshi Koshihara, Kenya Oguchi, Yo-ichi Takei, Kazuo Kitazawa, Kayoko Higuchi, Shinji Ohara
Acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS) are both CNS inflammatory demyelinating diseases with overlapping clinical features. A case is reported of a 51-year-old female who presented with headache, progressive aphasia and hemiparesis without preceding infection or vaccination. Brain MRI revealed multiple, often confluent, subcortical white matter lesions without enhancement, affecting predominantly the left cerebral hemisphere. CSF examination failed to reveal oligoclonal bands.
Georgios Tsivgoulis, Georgios Dervenoulas, Panagiotis Kokotis, Christina Zompola, John S. Tzartos, Socrates J. Tzartos, Konstantinos I. Voumvourakis
The detection of low density lipoprotein-4 (LRP4) antibodies in double seronegative (dSN) myasthenia gravis (MG) patients has provided new insights in the diagnosis and treatment of MG. However, there are limited data regarding the clinical presentation and treatment response in dSN MG patients with LRP4-antibodies. We present a case series of three Caucasian dSN MG patients with positive LRP4-antibodies sharing a common ethnic background that presented with isolated ocular symptoms (MGFA I). The demographic and clinical characteristics, the diagnostic work-up as well as the treatment response during a follow-up period of 12–24 months are described in detail.
Letters to the Editor |
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T. Hagenacker, J. Brenck, O. Kastrup
Transthyretin (TTR) amyloidosis is a rare systemic disorder characterized by the extracellular deposition of amyloid fibrils composed of the plasma protein transthyretin. TTR exists as a native tetramer. The protein aggregates into amyloid fibrils when mutant misfolded proteins dissociate into monomeric form [1]. The amyloid fibrils accumulate in various organs and cause a progressive fatal disease that affects the nerves, heart, kidneys and the autonomic nervous system. The peripheral nervous system is often affected by progressive axonal sensory and motor autonomic neuropathy, which results in a severe gate disorder during middle age [2], but forms of TTR amyloidosis with isolated organ affection (i.e., cardiomyopathy) also exist.
Daniel Ninello Polesel, Keity Mey Okazaki, Karen Tieme Nozoe, Monica Levy Andersen, Sergio Tufik
Recently, Cao and colleagues presented an interesting article titled "Association of heme oxygenase-1 gene rs2071746 polymorphism with vascular outcomes in patients with atherosclerotic stroke" [1] that demonstrated that a larger neck circumference was considered an independent variable associated with a higher risk of early stage atherosclerosis in a sample of Chinese adults. We would like to congratulate the authors for carrying out such a complex study and for the detailed methodology used in this atherosclerosis investigation.
Liping Cao, Biyang Cai, Xuegan Lian, Gelin Xu
We thank Polesel and colleagues [1] for their interest in our study [2]. Considering that some sleep disorders such as obstructive sleep apnea (OSA) are related to atherosclerosis, we think their suggestion that employing a sleep questionnaire to evaluate the possible cause of carotid atherosclerosis is interesting and of clinical importance.
Dale Ding
I have read, with interest, a recently published article in the Journal of the Neurological Sciences by Fujii et al. titled 'Cannabinoid type 2 receptor stimulation attenuates brain edema by reducing cerebral leukocyte infiltration following subarachnoid hemorrhage in rats' [1]. Using an endoluminal vessel perforation model of subarachnoid hemorrhage (SAH) in rats, the authors evaluated the molecular, histologic, and systemic effects of cannabinoid type 2 receptor (CBR2) activation with the selective agonist JWH133.
Mutsumi Fujii, Prativa Sherchan, Yoshiteru Soejima, Yu Hasegawa, Jerry Flores, Desislava Doycheva, John H. Zhang
We would like to thank Dr. Ding for his interest in our paper. Dr. Ding provides constructive comments for the potential clinical translation of cannabinoid receptor agonists in SAH patients. We agree with Dr. Ding that immunohistochemical staining to visualize leukocyte infiltration in cerebral vessels may strengthen the findings in our study. Although not after subarachnoid hemorrhage (SAH) but in LPS induced encephalitis, Ramirez et al. reported that vascular leukocyte adhesion was attenuated by the administration of cannabinoid type 2 receptor (CB2R) agonists which was visualized by intravital microscope [1].
Zhu Zhu, Xiang Han, Feng Qian, Wei Shi, Weijun Tang, Qiang Dong
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of vasculature development characterized by telangiectases and arteriovenous malformations. Although the central nervous system (CNS) lesions such as intracranial arteriovenous malformations, ischemic strokes and brain abscesses are not uncommon [1], the multiple system degeneration mimicking manifestation in HHT is rare. We report a patient who presented with multiple lesions in brain due to hyperammonemia induced by hepatic portal vein to hepatic vein shunts.
Yara Dadalti Fragoso, Tarso Adoni, Alfredo Damasceno, Carlos Augusto de Albuquerque Damasceno, Maria Lucia Brito Ferreira, Alessandro Finkelzstejn, Sidney Gomes, Marcus Vinicius Magno Goncalves, Anderson Kuntz Grzesiuk, Suellen Lins, Maria Fernanda Mendes, Francisco Tomaz Meneses de Oliveira, Monica Fiuza Konke Parolin, Cristiane Franklin Rocha, Carlos Bernardo Tauil
Treatment of multiple sclerosis (MS) with high doses of vitamin D has never been proven effective or safe. Attracted by the option of a "natural" and "curative" treatment for MS, some patients abandon their conventional therapy in order to try this highly desirable alternative.
Valentina Damato, Cristina Cuccagna, Emanuele M. Costantini, Simona Gaudino, Cesare Colosimo, Piero Parchi, Serenella Servidei, Marco Luigetti
Creutzfeldt–Jakob disease (CJD) is a transmissible, progressive and fatal spongiform encephalopathy [1] caused by brain accumulation/deposition of misfolded proteins called prions [2]. The cardinal manifestations of the disease are rapidly progressive dementia, myoclonus and periodic sharp wave complexes (PSWCs) on EEG [3]. However, recent findings show that CJD is more heterogeneous than expected and the spectrum of the disease broadened to include uncommon variants [4–6].
Andrea Rigamonti, Giuseppe Lauria, Paola Melzi, Vittorio Mantero, Daniela Vismara, Giorgio Rossi, Antonio Tetto, Andrea Salmaggi
Waldenstrom macroglobulinemia (WM) is a lymphoplasmocytic lymphoma with bone marrow and lymphatic tissue involvement and IgM monoclonal gammopathy. Neurological complications occur in approximately 25% of patients [3]. Malignant infiltration of the central nervous system (CNS) or leptomeningeal spaces are very rare and are referred to as a Bing–Neel syndrome [7]. Epidural metastasis causing spinal cord compression in lymphoid neoplasms is a well known condition [2] that has been reported only exceptionally in WM [1].
João Sargento-Freitas, Fernando Silva, João Pego, Cristina Duque, Gustavo Cordeiro, Luís Cunha
Dabigatran Etexilate (DE) was the first oral direct thrombin inhibitor approved for the prevention of stroke and systemic embolism in patients with non-valvular atrial fibrillation (AF) [1,2]. One of its main advantages relies on predictable pharmacokinetics allowing a fixed dosage for each patient. In fact, although a range of pharmacokinetic response to DE has been demonstrated, up until now no case has been described of clinical and pharmacologic resistance.
Ayako Shioya, Hiroshi Takuma, Seiji Yamaguchi, Akiko Ishii, Masahiko Hiroki, Tokiko Fukuda, Hideo Sugie, Yosuke Shigematsu, Akira Tamaoka
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), also known as glutaric acidemia type 2 (GA2), was first described in 1976 [1]. GA2 is a rare autosomal recessive disorder whose biochemical abnormalities result from a deficiency of one of the two electron transfer flavoproteins (ETF and ETFDH) that transfer electrons from acyl-CoA dehydrogenases to the respiratory chain [2]. The disorder affects multiple metabolic pathways involving branched amino acids, fatty acids, and tryptophan, and results in a variety of distinctive organic acids being discharged.
Cem İsmail Küçükali, Hazal Haytural, Gülçin Benbir, Arzu Çoban, Canan Ulusoy, Murat Giriş, Murat Kürtüncü, Erkingul Shugaiv, Derya Karadeniz, Erdem Tüzün
Sleep-related structures in the brain appear to be frequently affected in antibody-mediated autoimmune disorders of the central nervous system (CNS), such as autoimmune encephalitis and neuromyelitis optica (NMO), resulting in sleep disorders generally occurring in the form of excessive daytime sleepiness (EDS), narcolepsy, insomnia or rapid eye movement sleep behavior disorder (RBD) [1–5]. Orexin is a neurotransmitter that regulates arousal, wakefulness and appetite and is produced by a small population of hypothalamic cells.
M. Bonello, A.J. Larner, S.H. Alusi
Hereditary myoclonus dystonia (DYT11) results from mutations in the epsilon sarcoglycan gene (SGCE) located at chromosome 7q21.3 (OMIM# 159900 ) [1]. Onset of DYT11 is typically in the first or second decade of life, although onset as late as the fifth decade has been described [2]. The clinical phenotype comprises myoclonic jerks, sometimes alcohol responsive, affecting principally the proximal limb musculature, and dystonia, typically cervical dystonia and writer's cramp. Inter- and intra-familial clinical heterogeneity is well described, in part due to a maternal imprinting mechanism (reduced penetrance of phenotype associated with maternal inheritance of the mutated allele) [1].
Niem Tu Huynh, Philippe Huot
l-3,4-Dihydroxyphenylalanine (L-DOPA)-induced dyskinesia is a treatment-related complication that affects approximately 95% of patients with Parkinson's disease (PD) after 15 years of therapy [1]. The mechanisms underlying of L-DOPA-induced dyskinesia remain elusive, but several factors, such as striatal dopamine depletion, are regarded as important in dyskinesia pathophysiology [2]. Indeed, non-parkinsonian subjects do not seem to develop dyskinesia upon repeated exposure to L-DOPA. However, in the majority of studies in which L-DOPA was administered to non-parkinsonian individuals, the administration period was limited and there are no reports of subjects with functional movement disorders that were administered L-DOPA for several years.
Francisco de Assis Aquino Gondim, Florian P. Thomas
Human dental pulp is innervated by myelinated (Aδ) and non-myelinated (C) sensory fibers [4]. Most are non-myelinated and some modulate autonomic reflexes [3,4]. Cold stimulation of human teeth for 2 min causes 2 distinct painful sensations. The first has a short latency, is lancinating, sharp and well localized (mechanical Aδ mediation), whereas with temperatures 10 °C below the threshold for the first, a second pain with longer latency starts (C fibers) [4]. Orofacial nociceptive afferents are processed at the trigeminal spinal subnucleus caudalis and upper cervical spinal cord (C1) neurons, but the nucleus tractus solitarii and paratrigeminal nucleus also receive noxious input from the orofacial regions [3,6].
A. Michotte, J. Van Der Veken, M. Huylebrouck, J. Duerinck, J. D'Haens, A. Hoorens
We report a patient with a chordoid glioma, a rare tumour of the third ventricular region. Immunohistochemical examination revealed a nuclear positivity of the cells for thyroid-transcription factor-1 (TTF-1), an unreported finding so far. This may provide insight into the underlying molecular mechanisms of this peculiar tumour.
Guillaume Taieb, Dimitri Renard, Eric Thouvenot, Giovanna Servillo, Giovanni Castelnovo
We reported a 52-year-old woman with a relapsing–remitting MS treated by natalizumab since 3 years ago. JC virus (JCV) serostatus was positive (STRATIFY JCV test, Unilabs, Denmark). During this period no relapse occurred and her neurological state was stable (EDSS 1.5). Routine brain MRI performed at the 37th infusion of natalizumab displayed no new lesions (Fig. 1, month 37 [M37]). The day of the 41st natalizumab infusion, routine brain MRI revealed frontal, parietal and thalamic punctate gadolinium-enhancement in the absence of new lesions on FLAIR sequences in the corresponding areas (Fig. 1, M41).
Apostolos Safouris, Anne Demulder, Nikos Triantafyllou, Georgios Tsivgoulis
Novel oral anticoagulants (NOACs) are the recent therapeutic breakthrough in the thromboprophylaxis of non-valvular atrial fibrillation (NVAF). There are currently three different molecules approved for NVAF: dabigatran, rivaroxaban and apixaban. All three agents have demonstrated at least non-inferiority at major clinical endpoints compared to warfarin with their major advantage being the fixed-dose regimen that necessitates no regular blood tests and protects patients from the disastrous effects of infra-therapeutic (embolism) or supra-therapeutic (hemorrhage) anticoagulation.