Open search
Home
Publications
Journal of the Neurological Sciences
JNS Vol 359 | Dec 2015

JNS-cover.jpgJournal of Neurological Sciences

Vol 359 | No. 1-2 | 15 December 2015 | Pages 1-456

Review Articles

Neuropsychological impairment in childhood absence epilepsy: Review of the literature

A. Verrotti, S. Matricardi, V.E. Rinaldi, G. Prezioso, G. Coppola

Childhood absence epilepsy (CAE) is a paediatric epilepsy syndrome characterized by typical absence seizures in school age children. Although it is commonly considered to have a good prognosis, with a good response to antiepileptic drugs, recent studies questioned this traditional view of a "benign" disorder, in particular regarding neuropsychological functioning. The aim of this study is to review the neuropsychological involvement in patients affected by CAE.

123I-FP-CIT SPECT in the differential diagnosis between dementia with Lewy bodies and other dementias

Francesco Brigo, Giulia Turri, Michele Tinazzi

To systematically review the utility of dopamine system imaging using 123I-FP-CIT SPECT in the differential diagnosis between dementia with Lewy bodies (DLB) and other dementia syndromes.

Phosphodiesterase4D (PDE4D) — A risk factor for atrial fibrillation and stroke?

Carina Jørgensen, Saiqa Yasmeen, Helle K. Iversen, Christina Kruuse

Mutations in the gene encoding phosphodiesterase 4D (PDE4D) enzyme are associated with ischemic stroke; however the functional implications of such mutations are not well understood. PDE4D is part of a complex protein family modulating intracellular signalling by cyclic nucleotides. The PDE4 family includes subtypes A–D, all of which show unique intracellular, cellular and tissue distribution. PDE4D is the major subtype expressed in human atrial myocytes and involved in the pathophysiology of arrhythmias, such as atrial fibrillation.

Taenia solium Cysticercosis — The lessons of history

Oscar H. Del Brutto, Héctor H. García

Human taeniasis as well as porcine and human cysticercosis — caused by the pork tapeworm Taenia solium — are ancient diseases. The fact that pigs were considered impure in the ancient Greece and that the Koran prohibited the consumption of pork, were likely related to the knowledge that cysticercosis may affect swine. Evidence suggests that human cysticercosis was also present in the ancient Egypt and Rome. During the Renaissance, the causative agent was properly identified and human cases were recognized.

Are PrPCs involved in some human myelin diseases? Relating experimental studies to human pathology

Daniela Veber, Giuseppe Scalabrino

  • DOI: http://dx.doi.org/10.1016/j.jns.2015.09.365
  • p396–403
  • Published online: September 29 2015
  • Abstract
  • Full-Text HTML
  • PDF

We have experimentally demonstrated that cobalamin (Cbl) deficiency increases normal cellular prion (PrPC) levels in rat spinal cord (SC) and cerebrospinal fluid (CSF), and decreases PrPC-mRNA levels in rat SC. Repeated intracerebroventricular administrations of anti-octapeptide repeat-PrPC-region antibodies to Cbl-deficient (Cbl-D) rats prevent SC myelin lesions, and the administrations of PrPCs to otherwise normal rats cause SC white matter lesions similar to those induced by Cbl deficiency. Cbl positively regulates SC PrPC synthesis in rat by stimulating the local synthesis of epidermal growth factor (EGF), which also induces the local synthesis of PrPC-mRNAs, and downregulating the local synthesis of tumor necrosis factor(TNF)-α, thus preventing local PrPC overproduction.

 

Basic Research Papers

Clinical profile of Monomelic Amyotrophy (MMA) and role of persistent viral infection

Deepti Vibha, Madhuri Behari, Vinay Goyal, Garima Shukla, Rohit Bhatia, Achal Kumar Srivastava, S. Vivekanandhan

The objective of our study was to describe the clinical characteristics, electrophysiology, MRI features and conduct viral assays in patients with Monomelic Amyotrophy (MMA) and follow them up over one year.

Level of neurotoxic metals in amyotrophic lateral sclerosis: A population-based case–control study

Beatrice Bocca, Giovanni Forte, Riccardo Oggiano, Simonetta Clemente, Yolande Asara, Angela Peruzzu, Cristiano Farace, Salvatore Pala, Alessandro Giuseppe Fois, Pietro Pirina, Roberto Madeddu

The association between exposure to toxic metals and amyotrophic lateral sclerosis (ALS) was explored in a population-based case–control study in the Sardinia island (Italy), a region characterized by elevated rates of ALS cases. In 34 patients with ALS (mean age, 62 ± 10 years) and 30 controls (mean age, 65 ± 11 years), Al, Cd, Hg, Mn and Pb were determined in blood, hair and urine by sector field inductively coupled mass spectrometry. Results indicated that, in blood, concentrations of Al (p = 0.045) and Pb were higher (p = 0.026) in ALS patients than in control subjects.    

Demonstration of equivalence of a generic glatiramer acetate (Glatopa™)

James Anderson, Christine Bell, John Bishop, Ishan Capila, Tanmoy Ganguly, Joseph Glajch, Mani Iyer, Ganesh Kaundinya, Jonathan Lansing, Joel Pradines, James Prescott, Bruce A. Cohen, Daniel Kantor, Richard Sachleben
  • DOI: http://dx.doi.org/10.1016/j.jns.2015.10.007
  • p24–34
  • Published online: October 6 2015
  • Open Access
  • Abstract
  • Full-Text HTML
  • PDF

Glatiramer acetate (GA) has been available under the brand name Copaxone® for nearly two decades. Recently, the US Food and Drug Administration (FDA) approved the first generic GA, Glatopa™, as fully substitutable for all indications for which Copaxone 20 mg is approved; Glatopa also represents the first FDA-approved "AP-rated," substitutable generic for treating patients with MS. Glatiramer acetate is a complex mixture of polypeptides and, consequently, its characterization presented challenges not generally encountered in drug development.

The effect of B-cell depletion in the Theiler's model of multiple sclerosis

Francesca Gilli, Libin Li, Sandra J. Campbell, Daniel C. Anthony, Andrew R. Pachner

B cell depletion (BCD) is being considered as a treatment for multiple sclerosis (MS), but there are many uncertainties surrounding the use of this therapy, such as its potential effect in individuals with concurrent viral infections. We sought to discover what effect BCD, induced by an anti-CD20 monoclonal antibody, would have on Theiler's murine encephalomyelitis virus-induced demyelinating disease (TMEV-IDD). Mice were injected with the anti-CD20 monoclonal antibody 5D2, 14 days before or 14 days after infection with TMEV.

Protein phosphatase 2A (PP2A) activation promotes axonal growth and recovery in the CNS

Peng Cheng, Kun Chen, Wei Yu, Shutao Gao, Shunze Hu, Xuying Sun, Hui Huang

Current treatments to restore neurological deficits caused by axonal disconnection following central nervous system (CNS) injury are extremely limited. Protein phosphatase 2A (PP2A), one of the main serine-threonine phosphatases in mammalian cells, dephosphorylates collapsin response mediator protein-2 (CRMP2) in the developing CNS. In our study, we found that the major CNS inhibiting substrates, including chondroitin sulfate proteoglycans (CSPGs) and myelin associated glycoproteins (MAG), activated epidermal growth factor receptor (EGFR), but inactivated PP2A and downstream CRMP2.

Toll-like receptor 4 (TLR4) is correlated with delayed cerebral ischemia (DCI) and poor prognosis in aneurysmal subarachnoid hemorrhage

Chunxiao Ma, Wei Zhou, Zhaoyue Yan, Mingqi Qu, Xingyao Bu

Toll-like receptor 4 (TLR4) is one of key players in regulation of inflammation. Animal experiments have suggested an important role of TLR4 in the pathophysiology of subarachnoid hemorrhage (SAH). In present study, TLR4 is investigated in clinical SAH patients to explore its clinical significance. 30 patients with aneurysmal subarachnoid hemorrhage (aSAH) and 20 healthy control patients (HC) were enrolled in this prospective study. Blood samples were collected on days 1, 3 and 7 after admission.  

A multicenter, prospective, observational study of warfarin-associated intracerebral hemorrhage: The SAMURAI-WAICH study

Masato Osaki, Masatoshi Koga, Koichiro Maeda, Yasuhiro Hasegawa, Jyoji Nakagawara, Eisuke Furui, Kenichi Todo, Kazumi Kimura, Yoshiaki Shiokawa, Yasushi Okada, Satoshi Okuda, Kazuomi Kario, Hiroshi Yamagami, Kazuo Minematsu, Takanari Kitazono, Kazunori Toyoda, for the Stroke Acute Management with Urgent Risk-factor Assessment and Improvement (SAMURAI) Study Investigators

Because patients with warfarin-associated intracerebral hemorrhage (WAICH) have a high risk of ongoing bleeding, disability, and death, urgent coagulopathy reversal should be considered. On the other hand, thromboembolism may occur with reversal or withholding of anticoagulant therapy. The current status of acute hemostatic treatments and clinical outcomes in WAICH patients was investigated.

Analysis of neoplastic lesions in magnetic resonance imaging using self-organizing maps

Paulo Afonso Mei, Cleyton de Carvalho Carneiro, Stephen J. Fraser, Li Li Min, Fabiano Reis

To provide an improved method for the identification and analysis of brain tumors in MRI scans using a semi-automated computational approach, that has the potential to provide a more objective, precise and quantitatively rigorous analysis, compared to human visual analysis.

Cortical event-related potentials in Alzheimer's disease and frontotemporal lobar degeneration

Lei Chen, Yuying Zhou, Li Liu, Xueqing Zhang, Huihong Zhang, Shuai Liu

The aim of the present study was to evaluate changes in event-related evoked potentials (ERPs) in patients with Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD). Methods: A total of 42 AD patients, 29 behavioral variant frontotemporal dementia (bvFTD) patients, and 30 healthy controls were examined. The subjects underwent neuropsychological tests and cognitive (N200 and P300) ERP examination. The amplitudes and latencies of the cortical potentials were compared among AD and bvFTD patients and control subjects.

Cognitive evaluation by tasks in a virtual reality environment in multiple sclerosis

Delphine Lamargue-Hamel, Mathilde Deloire, Aurore Saubusse, Aurélie Ruet, Jacques Taillard, Pierre Philip, Bruno Brochet

Background: The assessment of cognitive impairment in multiple sclerosis (MS) requires large neuropsychological batteries that assess numerous domains. The relevance of these assessments to daily cognitive functioning is not well established. Cognitive ecological evaluation has not been frequently studied in MS. Objectives: The aim of this study was to determine the interest of cognitive evaluation in a virtual reality environment in a sample of persons with MS with cognitive deficits. Methods: Thirty persons with MS with at least moderate cognitive impairment were assessed with two ecological evaluations, an in-house developed task in a virtual reality environment (Urban DailyCog®) and a divided attention task in a driving simulator.

Cyclooxygenase-2 gene polymorphisms and risk of Alzheimer's disease: A meta-analysis

Dong Luo, Yan Long, Guo-Jun Chen

Cyclooxygenase-2 (COX-2) is one of the key enzymes in the synthesis of prostaglandins, and plays a pivotal role in inflammatory response. Recent studies have suggested cyclooxygenase-2 is involved in the pathogenesis of Alzheimer's disease (AD). However, the relationship between COX-2 gene polymorphisms (−765G>C rs20417, −1195A>G rs689466) and Alzheimer's disease risk is not conclusive. We conducted a meta-analysis to systematically examine and to clarify the association between the two SNPs and AD risk.

Vitamin D status and vascular dementia due to cerebral small vessel disease in the elderly Asian Indian population

Puttachandra Prabhakar, Sadanandavalli Retnaswami Chandra, Manjunath Supriya, Thomas Gregor Issac, Chandrajit Prasad, Rita Christopher

Vitamin D plays vital roles in human health and recent studies have shown its beneficial effect on brain functioning. The present study was designed to evaluate the association of vitamin D with vascular dementia (VaD) due to cerebral small vessel disease (SVD) in Asian Indian population. 140 VaD patients aged ≥60 years with neuroimaging evidence of SVD, and 132 age and gender-matched controls, were investigated. Vitamin D status was estimated by measuring serum 25-hydroxy vitamin D. Logistic regression model revealed that deficient levels of vitamin D (<12 ng/ml) were associated with 2.2-fold increase in odds of VaD after adjustment with covariates.      

Task-shifting training improves stroke knowledge among Nigerian non-neurologist health workers

Rufus O. Akinyemi, Mayowa O. Owolabi, Philip B. Adebayo, Joshua O. Akinyemi, Folajimi M. Otubogun, Ezinne Uvere, Olaleye Adeniji, Osimhiarherhuo Adeleye, Olumayowa Aridegbe, Funmilola T. Taiwo, Shamsideen A. Ogun, Adesola Ogunniyi

The increasing stroke burden in sub-Saharan Africa far outstrips the availability of skilled human resource to provide timely and efficient acute, rehabilitative and preventive services. The objective of this study was to examine the impact of a short-term task-shifting stroke training program on the stroke knowledge of a cohort of Nigerian non-neurologist health workers (NNHWs).

Motor and somatosensory abnormalities are significant etiological factors for adolescent idiopathic scoliosis

Y.L. Lo, A. Teo, Y.E. Tan, S. Fook-Chong, C.M. Guo, W.M. Yue, J. Chen, S.B. Tan, H.W.M. Lee, Y.F. Dan

In adolescent idiopathic scoliosis (AIS), we explore the role of lateralized motor and somatosensory abnormalities as a possible etiological factor.

Risk factors for cognitive and functional change in one year in patients with Alzheimer's disease dementia from São Paulo, Brazil

Fabricio Ferreira de Oliveira, Glaucia Akiko Kamikado Pivi, Elizabeth Suchi Chen, Marilia Cardoso Smith, Paulo Henrique Ferreira Bertolucci

Midlife cerebrovascular risk, low cognitive reserve and APOE4+ haplotypes are risk factors for Alzheimer's disease dementia (AD). We prospectively searched for factors that might be associated with yearly changes in caregiver burden, cognition, basic and instrumental functionality in 193 consecutive outpatients with late-onset AD, namely gender, APOE haplotypes, schooling, age at AD onset, marital status, depression, cerebrovascular risk factors, serum TSH levels, cognitive and physical activities, and treatment with cholinesterase inhibitors or anti-psychotics, while also investigating associations between APOE haplotypes and patient participation in cognitive or physical activities.    

Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology

Marília Danyelle Nunes Rodrigues, Bianca Seminotti, Alexandre Umpierrez Amaral, Guilhian Leipnitz, Stephen Irwin Goodman, Michael Woontner, Diogo Onofre Gomes de Souza, Moacir Wajner

Glutaric aciduria type I (GA I) is biochemically characterized by accumulation of glutaric and 3-hydroxyglutaric acids in body fluids and tissues, particularly in the brain. Affected patients show progressive cortical leukoencephalopathy and chronic degeneration of the basal ganglia whose pathogenesis is still unclear. In the present work we investigated parameters of bioenergetics and redox homeostasis in various cerebral structures (cerebral cortex, striatum and hippocampus) and heart of adult wild type (Gcdh+/+) and glutaryl-CoA dehydrogenase deficient knockout (Gcdh−/−) mice fed a baseline chow.

The susceptibility vessel sign containing two compositions on 3-tesla T2*-weighted image and single corticosubcortical infarct on diffusion-weighted image are associated with cardioembolic stroke

Nobuaki Yamamoto, Junichiro Satomi, Yuki Yamamoto, Izumi Yamaguchi, Takahiro Furukawa, Yoshiteru Tada, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro, Ryuji Kaji

Although accurate diagnosis of the ischemic stroke subtype is one of the most important factors for selection of therapeutic approach, it is sometimes difficult at the time of admission. We previously reported that susceptibility vessel sign (SVS) with two layers (termed two-layered SVS) on 3-tesla-T2*-weighted image (T2*-WI) might be useful to predict cardioembolic stroke in patients with cerebral major vessel occlusion. We studied about biomarkers on magnetic resonance imaging (MRI), including two-layered SVS for diagnosing cardioembolic stroke.

Onset-adjusted incidence of multiple sclerosis in the Girona province (Spain): Evidence of increasing risk in the south of Europe

S. Otero-Romero, Ll. Ramió-Torrentà, I. Pericot, O. Carmona, H. Perkal, A. Saiz, E. Bufill, R. Robles, E. Simón, S. Llufriu, J. Vaqué-Rafart, J. Sastre-Garriga, X. Montalban

Recent studies show an increasing incidence of multiple sclerosis (MS) in southern Europe. Although by its geographical location and genetic characteristics Spain is expected to be similar to other southern European regions, data on incidence are scarce. The aim of this study was to determine the onset-adjusted incidence of MS in the Girona province in Catalonia (Spain).

Central nervous system (CNS) cancer in children and young people in the European Union and its involvements with socio-economic and environmental factors

Agustín Llopis-González, Teresa Alcaide Capilla, Unai Chenlo Alonso, Nuria Rubio-López, Antoni Alegre-Martinez, María Morales Suárez-Varela

Malignant central nervous system (CNS) tumors are the leading cause of death by cancer in children and the second commonest pediatric cancer type. Despite several decades of epidemiologic research, the etiology of childhood CNS tumors is still largely unknown. A few genetic syndromes and therapeutic ionizing radiation are thought to account for 5–10% of childhood cancer, but the etiology of other cases remains unknown. Nongenetic causes, like environmental agents, are thought to explain them. However, as very few epidemiologic studies have been conducted, it is not surprising that nongenetic risk factors have not been detected.

Diagnostic yield of the palmomental reflex in patients with suspected frontal lesion

Lady D. Ladino, Sandra Isaza, Jorge Delgado, Simon Rascovsky, Carlos Uribe, Santiago Acebedo, William Cornejo, Lizbeth Hernandez-Ronquillo, Jose F. Tellez-Zenteno

The purpose of this study was to determine the diagnostic value of the palmomental reflex in order to identify frontal lesions in neurological outpatients.

No evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley of India

Insha Zahoor, Ravouf Asimi, Ehtishamul Haq

Multiple sclerosis (MS) is an inflammatory neurodegenerative disease of the nervous system with a profound genetic element. It is already known that alterations in Eukaryotic Translation Initiation Factor 2B (EIF2B) gene encoding the five subunits of eIF2B complex cause Vanishing White Matter (VWM) disease of the brain and emerging evidences have advocated certain resemblances between MS and VWM in terms of clinical and epidemiological characteristics, thus validating the association study between EIF2B and MS.

Expression and clinical role of RBQ3 in gliomas

Chengjin Zhao, Wenjuan Chen, Shirong Dai, Xiubing Zhang, Na Ban, Shaochen Fan, Zhen Bao, Jie Sun, Chaoyan Shen, Xiaojie Xia, Li Zhang, Jianbing Ren

RBQ3, also known as RBBP5 (RB-binding protein 5), was an RB-binding protein. Besides, it was one of core components of MLL1 (mixed lineage leukemia 1), which were required for H3K4 methyltransferase activity. MLL1 dysfunction was found to be associated with the progression of some cancers such as acute leukemias. However, the precise role of RBQ3 in tumor progression remains obscure. In this study, we explored the expression and clinical role of RBQ3 in gliomas. Our results showed that RBQ3 was significantly upregulated in clinical glioma specimens by Western blot and immunohistochemistry. 

Magnetic resonance imaging based morphologic evaluation of the pineal gland for suspected pineoblastoma in retinoblastoma patients and age-matched controls

Thi Thai Hien Pham, Eberhard Siebert, Patrick Asbach, Gregor Willerding, Katharina Erb-Eigner

The purpose of this study was to evaluate the morphologic magnetic resonance imaging (MRI) characteristics of the pineal gland in retinoblastoma (Rb) patients without and with pineoblastoma in comparison to age-matched controls to improve early identification of pineoblastomas (trilateral retinoblastoma, TRb).

Correlation of the VEMP score, ambulation and upper extremity function in clinically isolated syndrome

Luka Crnošija, Magdalena Krbot Skorić, Tereza Gabelić, Ivan Adamec, Vesna Brinar, Mario Habek

To investigate the correlation of the vestibular evoked myogenic potential (VEMP) score with Timed 25-Foot Walk (T25FW), 9-Hole Peg Test (9HPT), Paced Auditory Serial Addition Test (PASAT) and EDSS in patients with multiple sclerosis (MS).

Serum neuron specific enolase level as a predictor of prognosis in acute ischemic stroke patients after intravenous thrombolysis

Kaili Lu, Xiaofeng Xu, Shasha Cui, Feng Wang, Bin Zhang, Yuwu Zhao

Serum neuron specific enolase (NSE) concentrations are significantly correlated with stroke severity and clinical outcome in ischemic stroke patients. We aimed to determine whether the serum levels of neuron specific enolase in acute ischemic stroke (AIS) patients after intravenous thrombolysis are associated with stroke severity, and indicative of favorable outcome.

Impaired vascular endothelial function in patients with restless legs syndrome: a new aspect of the vascular pathophysiology

Seung Yon Koh, Min Seung Kim, Sun Min Lee, Ji Man Hong, Jung Han Yoon

Restless legs syndrome (RLS) is a common sleep disorder in which patients feel unpleasant leg sensations and the urge to move their legs during rest, particularly at night. Leg movement improves these symptoms. Although several studies have demonstrated an association between cardiovascular disease and RLS, the mechanisms underlying this relationship remain unclear. Recent studies have shown changes in the peripheral microvasculature, including altered blood flow and capillary tortuosity, and peripheral hypoxia.

Comparison of different stimulation parameters of repetitive transcranial magnetic stimulation for unilateral spatial neglect in stroke patients

Wei Yang, Tao-Tao Liu, Xiao-Bin Song, Yan Zhang, Zhao-Hui Li, Zhi-Hua Cui, Qian Hao, Hong Lei Liu, Chun Ling Lei, Jun Liu

: In this study three different stimulation parameters of repetitive transcranial magnetic stimulation (rTMS) were tested to compare the efficacy of continuous theta burst stimulation (continuous TBS) for rehabilitation of unilateral spatial neglect (USN) in stroke patients.

Does Parkinson's disease lead to alterations in the facial expression of pain?

Janosch A. Priebe, Miriam Kunz, Christian Morcinek, Peter Rieckmann, Stefan Lautenbacher

Hypomimia which refers to a reduced degree in facial expressiveness is a common sign in Parkinson's disease (PD). The objective of our study was to investigate how hypomimia affects PD patients' facial expression of pain. The facial expressions of 23 idiopathic PD patients in the Off-phase (without dopaminergic medication) and On-phase (after dopaminergic medication intake) and 23 matched controls in response to phasic heat-pain and a temporal summation procedure were recorded and analyzed for overall and specific alterations using the Facial Action Coding System (FACS).

Retrospective analysis of parkinsonian patients exhibiting normal 123I-MIBG cardiac uptake

Yasuaki Mizutani, Shinji Ito, Kenichiro Murate, Seiko Hirota, Takao Fukui, Chika Hikichi, Tomomasa Ishikawa, Sayuri Shima, Akihiro Ueda, Madoka Kizawa, Kunihiko Asakura, Tatsuro Mutoh

Although most patients with Parkinson's disease (PD) show decreased cardiac 123I-metaiodobenzylguanidine (MIBG) uptake, some exhibit normal uptake. We evaluated the clinical characteristics of such patients.

Contralateral ictal electrographic involvement is associated with decreased memory performance in unilateral mesial temporal sclerosis

Valmir Passarelli, Humberto Castro-Lima Filho, Carla C. Adda, Ana P. Preturlon-Santos, Rosa M. Valerio, Carmen L. Jorge, Paulo Puglia-Jr, Katarina Lyra, Maria G. Otaduy, Hung-Tzu Wen, Luiz H. Castro

To evaluate the effect of contralateral electrographic involvement on memory performance (measured by neuropsychological and Wada memory testing) in patients with epilepsy associated with unilateral mesial temporal sclerosis (MTS).

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation

Toshitaka Kawarai, Ryosuke Miyamoto, Atsuko Mori, Ryosuke Oki, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yoshimichi Miyazaki, Antonio Orlacchio, Yuishin Izumi, Yoshihiko Nishida, Ryuji Kaji

We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia using the whole-exome sequencing. Phenotypic variability was observed, including age-at-onset, dysarthria and pes cavus. Coding DNA sequencing revealed that the mutation affected the recognition of the constitutive SSD of intron 30, splicing upstream onto a nearby cryptic SSD in exon 30. The use of constitutive splice sites of intron 29 was confirmed by sequencing.

Dysferlinopathy in Iran: Clinical and genetic report

Farzad Fatehi, Shahriar Nafissi, J. Andoni Urtizberea, Véronique Blanck-Labelle, Nicolas Lévy, Martin Krahn, Mohamad Baker Dbouk, Shahram Attarian

Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM). We describe the clinical course and mutational analyses of 15 Iranian patients with dysferlinopathy from 9 different families.

Pre-operative obesity may influence subthalamic stimulation outcome in Parkinson's disease

Audrey Rouillé, Stéphane Derrey, Romain Lefaucheur, Alaina Borden, Damien Fetter, Maryvonne Jan, David Maltête

Pre-operative predictive factors for optimal post-operative effect of subthalamic nucleus (STN) stimulation in Parkinson's disease (PD) have been previously reported. No study has explicitly assessed the link between excess pre-operative body weight and STN stimulation outcome.

A novel embolic middle cerebral artery occlusion model induced by thrombus formed in common carotid artery in rat

Yin-Zhong Ma, Li Li, Jun-Ke Song, Zi-Ran Niu, Hai-Feng Liu, Xiang-Shan Zhou, Fu-Sheng Xie, Guan-Hua Du

Stroke is a major cause of death and disability worldwide. However, treatment options to date are very limited. To meet the need for validating the novel therapeutic approaches and understanding the physiopathology of the ischemic brain injury, experimental stroke models were critical for preclinical research. However, commonly used embolic stroke models are reluctant to mimic the clinical situation and not suitable for thrombolytic timing studies. In this paper, we established a standard method for producing a rat embolic stroke model with autologous thrombus formed within the common carotid artery (CCA) by constant galvanic stimulation.    

Correlation of mechanical impact responses and biomarker levels: A new model for biomarker evaluation in TBI

Yan Li, Liying Zhang, Srinivasu Kallakuri, Abigail Cohen, John M. Cavanaugh

A modified Marmarou impact acceleration model was used to help screen biomarkers to assess brain injury severity. Anesthetized male Sprague–Dawley rats were subjected to a closed head injury from 1.25, 1.75 and 2.25 m drop heights. Linear and angular responses of the head were measured in vivo. 24 h after impact, cerebrospinal fluid (CSF) and serum were collected. CSF and serum levels of phosphorylated neurofilament heavy (pNF-H), glial fibrillary acidic protein (GFAP), interleukin 6 (IL-6), and amyloid beta (Aβ) 1–42 were assessed by enzyme-linked immunosorbent assay (ELISA).        

Impact of BNP on cryptogenic stroke without potential embolic sources on transesophageal echocardiography

Yuji Ueno, Ryota Tanaka, Kazuo Yamashiro, Yoshiaki Shimada, Takuma Kuroki, Kenichiro Hira, Takao Urabe, Nobutaka Hattori

Clinical characteristics are important for determining the etiologies of embolic stroke, including patent foramen ovale and complex aortic plaques demonstrated on transesophageal echocardiography (TEE). This study sought to analyze the clinical signs of cryptogenic stroke (CS) without such embolic etiologies and to examine the association between CS and brain natriuretic peptide (BNP), which is currently unknown.

The etiologic subtype of intracerebral hemorrhage may influence the risk of significant hematoma expansion

Manuel Cappellari, Cecilia Zivelonghi, Giuseppe Moretto, Nicola Micheletti, Monica Carletti, Giampaolo Tomelleri, Paolo Bovi

Intracerebral hemorrhage (ICH) growth is an important independent predictor of clinical deterioration and outcome. Little is known about the association between etiology of ICH and occurrence of hematoma expansion (HE). The aim of the present study was to assess whether ICH etiologic subtype may influence the risk of significant HE.

Serum caspase-cleaved cytokeratin-18 levels and outcomes after aneurysmal subarachnoid hemorrhage

Zi-Gang Yuan, Jian-Li Wang, Guo-Liang Jin, Xue-Bin Yu, Jin-Quan Li, Tian-Lun Qiu, Rong-Xiao Dai

Cell apoptosis is involved in acute brain injury after aneurysmal subarachnoid hemorrhage (aSAH). The protein cytokeratin-18 (CK-18) is cleaved by the action of caspases during apoptosis, and the resulting fragments are released into the blood as caspase-cleaved CK (CCCK)-18. Our study examined the relationship between circulating CCCK-18 levels and long-term clinical outcomes among aSAH patients.

Retinal nerve fiber layer thickness and neurologic disability in relapsing–remitting multiple sclerosis

Raed Behbehani, Abdullah Abu Al-Hassan, Abdullah Al-Khars, Devarajan Sriraman, Raed Alroughani

To assess the correlation between disability progression assessed by expanded disability status scale (EDSS) and peripapillary retinal nerve fiber layer thickness (RNFLT), macular thickness and macular volume obtained by spectral domain OCT (SDOCT) in patient with relapsing–remitting multiple sclerosis.

Male sexual function in presymptomatic gene carriers and patients with Huntington's disease

Matej Kolenc, Jan Kobal, Simon Podnar

To report sexual dysfunction in a systematically studied cohort of men with Huntington's disease (HD), and compare them with control men of a similar age.

Seizures after intracerebral hemorrhage; risk factor, recurrence, efficacy of antiepileptic drug

Shuichiro Neshige, Masaru Kuriyama, Takeshi Yoshimoto, Shinichi Takeshima, Takahiro Himeno, Kazuhiro Takamatsu, Michiyoshi Sato, Shinzo Ota
  • DOI: http://dx.doi.org/10.1016/j.jns.2015.09.358
  • p318–322
  • Published online: September 22 2015
  • Abstract
  • Full-Text HTML
  • PDF

Objective: This study aimed to determine the risk factors for recurrent post stroke seizure (PSS) and the efficacy of anti-epileptic drugs (AED) in patients having intracerebral hemorrhage (ICH) with initial seizure. Methods/subjects: A total of 1920 consecutive patients with ICH from 2004 to 2012 were investigated retrospectively. The relationships among the baseline clinical and radiological data, administration of AED, and incidence of initial and recurrent PSS were evaluated using multiple logistic regression analysis.            

Cognitive impairment of Japanese multiple sclerosis patients: Follow-up study using BRB-N assessment tool

Fumihito Yoshii, Shigeharu Takagi, Eiichiro Nagata, Yasuhiro Hasegawa, Naoya Kunika, Futaba Maki, Hideki Mochizuki, Mieko Ogino, Yoshiyuki Kuroiwa

The purpose of this study was to evaluate cognitive function in patients with multiple sclerosis (MS), compared with control subjects, and to establish whether decline of cognitive function continues in the patients during remission.

Brachial-ankle pulse wave velocity and ankle-brachial index are complementary tools for transcranial Doppler ultrasonography in early diagnosis of intracranial arterial stenosis/occlusion in patients with acute ischemic stroke

Zhenghao Xuan, Jingjing Zhou, Li Yi, Qian Zhang, Li Li

The aim of this study was to explore whether brachial-ankle pulse wave velocity (baPWV) and ankle-brachial index (ABI) are suitable to serve as complementary tools for TCD in early diagnosis of intracranial arterial stenosis/occlusion in patients with acute ischemic stroke (AIS). A total of 52 patients with AIS onset and 52 age-matched healthy controls were included in this study. All participants received TCD detection, and baPWV and ABI were measured. Computed topography (CT)/magnetic resonance imaging (MRI) was applied to confirm diagnosis.

Association of HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes with myasthenia gravis and its subgroups in the Iranian population

Soroush Ehsan, Aliakbar Amirzargar, Mir Saeed Yekaninejad, Mahdi Mahmoudi, Saeed Mehravar, Batoul Moradi, Shahriar Nafissi

Heterogenic pattern of HLA associations with myasthenia gravis (MG) among different ethnicities and also among different MG subgroups has been the subject of debate in large series of many studies. One hundred and sixty Iranian MG patients were investigated for HLA class II (DRB1, DQA1, DQB1) associations compared to two hundred healthy controls from the same ethnic population. DRB1*11 DQA1*0501 DQB1*0301 haplotype was found to be protective for total (ocular plus generalized) MG (Pc = 0.005, OR = 0.49) and generalized MG (Pc = 0.008, OR = 0.49).                  

Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28–q29

Wenqian Yu, Xiangdong You, Dong Wang, Kai Dong, Jing Su, Chuanfen Li, Jinxiu Liu, Qianqian Zhang, Feng You, Xiangrong Wang, Jing Huang, Bin Qiao, Wenyuan Duan

Hereditary spastic paraplegia (HSP) is a clinical and genetic heterogeneity group of neurodegenerative disorders which is characterized by progressive weakness and spasticity of the lower limbs. More than 70 genetic types of HSP have been described so far. Here we describe a Chinese non-consanguineous family with two affected siblings manifesting early-onset autosomal recessive HSP in pure forms. To identify genotype and characterize phenotype, CytoScan HD array analysis was performed on the two siblings. 

 
 
 
 

Journal of Neurological Sciences

JNS Vol 459 | April 2024

JNS Vol 458 | March 2024

JNS Vol 457 | February 2024

JNS Vol 456 | January 2024

JNS Vol 455 | December 2023

JNS Vol 454 | November 2023

JNS Vol 453 | October 2023

JNS Vol 452 | September 2023

JNS Vol 451 | August 2023

JNS Vol 450 | July 2023

JNS Vol 449 | June 2023

JNS Vol 448 | May 2023

JNS Vol 447 | April 2023

JNS Vol 446 | March 2023

JNS Vol 445 | February 2023

JNS Vol 444 | January 2023

JNS Vol 443 | December 2022

JNS Vol 442 | November 2022

JNS Vol 441 | October 2022

JNS Vol 440 | September 2022

JNS Vol 439 | August 2022

JNS Vol 438 | July 2022

JNS Vol 437 | June 2022

JNS Vol 436 | May 2022

JNS Vol 435 | April 2022

1 3 4 5 Last
 
 
 
Home | Terms of Use | Privacy and cookies | Site Map | Contact Us | Manage cookies
Copyright © 2024 World Federation of Neurology. All rights reserved.

Web design by Tribal Systems