JNS-cover.jpgJournal of Neurological Sciences

Vol 363 | 15 April 2016 | Pages 1-258

President's Column

Neurologists and Zika

Raad Shakir

The world is facing another viral epidemic, which is causing major concerns. Zika Flavi virus is transmitted by Aedes mosquitos and is now prevalent in the northern regions of South America and Central America. The WHO on the 1st February 2016 has declared Zika as Public Health Emergency of International Concern PHEIC [1]. The illness itself is mild and by and large does not need major medical intervention. However, the neurological consequences are devastating. This was the reason why the WHO has acted expeditiously [2].


Review Articles

Neurotrophic factors in Parkinson's disease are regulated by exercise: Evidence-based practice

Paula Grazielle Chaves da Silva, Daniel Desidério Domingues, Litia Alves de Carvalho, Silvana Allodi, Clynton Lourenço Correa

We carried out a qualitative review of the literature on the influence of forced or voluntary exercise in Parkinson's Disease (PD)-induced animals, to better understand neural mechanisms and the role of neurotrophic factors (NFs) involved in the improvement of motor behavior. A few studies indicated that forced or voluntary exercise may promote neuroprotection, through upregulation of NF expression, against toxicity of drugs that simulate PD. Forced training, such as treadmill exercise and forced-limb use, adopted in most studies, in addition to voluntary exercise on a running wheel are suitable methods for NFs upregulation.

Neuroprotective and restorative effects of the brain-derived neurotrophic factor in retinal diseases

Mehrdad Afarid, Mohammad Torabi-Nami, Bijan Zare

Brain-derived neurotrophic factor (BDNF) is a neurotrophin proposed to be implicated in ameliorating the course of some neurodegenerative disorders. Given the fact that retina is considered as an out-pouching of the central nervous system, its related diseases have long been suggested to receive protective influence from this signaling molecule. The role of BDNF in retinal neurorestoration, neuroprotection and oxidative stress has extensively been tested over the past two decades. Nonetheless, almost the entire related literature root in animal studies and clinical research on this topic is lacking.

Association of IL4 and IL4R polymorphisms with multiple sclerosis susceptibility in Caucasian population: A meta-analysis

Zhaoqiang Zhang, Lei Wang, Xiao Sun, Li Zhang, Lianyuan Lu

Previous studies have suggested a role for interleukin-4 (IL4) and its receptor (IL4R) gene in susceptibility to multiple sclerosis (MS), but the results remain controversial and under-powered.


Basic Research Papers

The impacts of premorbid hypertension treatment on functional outcomes of ischemic stroke

Qinqin Cao, Shuyu Zhou, Biyang Cai, Qing Wang, Jun Zhang, Ruifeng Shi, Keting Liu, Xinfeng Liu, Gelin Xu

The low rate of hypertension control is a major cause for the high rate of stroke morbidity and mortality in China. This study aimed to evaluate the impacts of premorbid hypertension treatment on the functional outcomes in patients with acute ischemic stroke and hypertension.

The association between rural residence and stroke care and outcomes

Julius Koifman, Ruth Hall, Shudong Li, Melissa Stamplecoski, Jiming Fang, Alexandra P. Saltman, Moira K. Kapral

Little is known about stroke care and outcomes in those residing in rural compared to urban areas.

Long-term observation of neuronal degeneration and microgliosis in the gerbil dentate gyrus after transient cerebral ischemia

Ji Hyeon Ahn, Bich Na Shin, Joon Ha Park, In Hye Kim, Jeong Hwi Cho, BaiHui Chen, Tae-Kyeong Lee, Hyun-Jin Tae, Jae-Chul Lee, Jun Hwi Cho, Il Jun Kang, Young-Myeong Kim, Yun Lyul Lee, Moo-Ho Won, Jeong Yeol Seo

Ischemic insults in the central nervous system evoke activation of microglia. In this study, we investigated long-term changes of neuronal damage and microglial activation in the gerbil dentate gyrus for 60 days after transient cerebral ischemia using immunohistochemistry and western blot. Neuronal damage or death was hardly found in the dentate gyrus after transient ischemia using cresyl violet staining and NeuN immunohistochemistry; however, neuronal degeneration was detected in the polymorphic layer of the dentate gyrus using Fluoro-Jade (F-J) B staining.       

Renin-angiotensin system gene polymorphisms as risk factors for multiple sclerosis

Maja Živković, Ana Kolaković, Ljiljana Stojković, Evica Dinčić, Smiljana Kostić, Dragan Alavantić, Aleksandra Stanković

The components of renin-angiotensin system, such as angiotensin-converting enzyme (ACE), angiotensin II and angiotensin II receptor type 1 and 2 (AT1R and AT2R), are expressed in the central nervous system and leukocytes and proposed to be involved in the inflammation and pathogenesis of multiple sclerosis (MS). ACE I/D, AT1R 1166A/C and AT2R -1332A/G are functional polymorphisms associated with phenotypes of diverse chronic inflammatory diseases. The aim of this study was to investigate the association between ACE I/D, AT1R 1166A/C and AT2R -1332A/G gene polymorphisms and MS in Serbian population.        

Subcutaneous interferon β-1a in pediatric patients with multiple sclerosis: Regional differences in clinical features, disease management, and treatment outcomes in an international retrospective study

Lauren B. Krupp, Daniela Pohl, Angelo Ghezzi, Alexey Boyko, Silvia Tenembaum, Liang Chen, Ernesto Aycardi, Brenda Banwell, on behalf of the REPLAY Study Group

  • DOI: http://dx.doi.org/10.1016/j.jns.2016.01.023
  • p33–38
  • Published online: January 15 2016
  • Open Access
  • Abstract
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To further understand management of pediatric patients with multiple sclerosis (MS), we examined disease features, clinical practice patterns, and response to treatment in the United States (US) and seven other countries ('rest of World'; ROW).

CIDP in a HIV endemic population: A prospective case series from Johannesburg, South Africa

Andre Mochan, David Anderson, Girish Modi

To describe patients with Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) in Johannesburg, South Africa, a setting of high HIV prevalence, and to determine the influence, if any, of HIV on CIDP.

Factors associated with favorable outcome in botulinum toxin A treatment for chronic migraine: A clinic-based prospective study

Mi Ji Lee, Chungbin Lee, Hanna Choi, Chin-Sang Chung

Botulinum toxin A (BTA) responders have elevated levels of calcitonin gene-related and vasoactive intestinal peptides, which are potent vasodilators. We aimed to investigate neurovascular features as a predictor of BTA treatment response in patients with chronic migraine.

Association of NOD1 and NOD2 polymorphisms with Guillain-Barré syndrome in Northern Indian population

N.K. Kharwar, K.N. Prasad, V.K. Paliwal, D.R. Modi

Nucleotide oligomerization domain (NOD) proteins are cytosolic pattern recognition receptors that respond to bacterial substrate and induce NF-κB activation in host. Association of NOD polymorphisms have been studied in many autoimmune disorders, however its role in Guillain-Barré syndrome (GBS) remains unknown. We have investigated NOD1 Glu266Lys and NOD2 (Arg702Trp and Gly908Arg) gene polymorphisms among patients with GBS.

Blood brain barrier breakdown was found in non-infarcted area after 2-h MCAO

Xiaona Wang, Yushan Liu, Yanyun Sun, Wenlan Liu, Xinchun Jin

The blood brain barrier (BBB) could be damaged within the thrombolytic time window and is considered to be a precursor to hemorrhagic transformation during reperfusion. Although we have recently reported the association between BBB damage and tissue injury within the thrombolytic time window, our knowledge about this early BBB damage is limited. In this study, rats were subjected to 2-h middle cerebral artery occlusion (MCAO) followed by 10 min reperfusion with Evan's blue as a tracer to detect BBB damage.

Efficacy and safety profile of memantine in patients with cognitive impairment in multiple sclerosis: A randomized, placebo-controlled study

Laure Peyro Saint Paul, Christian Creveuil, Olivier Heinzlef, Jerome De Seze, Patrick Vermersch, Giovanni Castelnovo, Philippe Cabre, Marc Debouverie, Bruno Brochet, Benoit Dupuy, Pierre Lebiez, Éric Sartori, Pierre Clavelou, David Brassat, Christine Lebrun-Frenay, David Daplaud, Jean Pelletier, Irène Coman, Patrick Hautecoeur, Ayman Tourbah, Gilles Defer

Memantine, an uncompetitive antagonist of N-methyl-d-aspartate (NMDA)-type glutamate receptors that was approved for the treatment of moderate to severe Alzheimer's disease, has been negatively evaluated for the treatment of cognitive disorders of multiple sclerosis, but these studies were conducted only during short-term administration and on a heterogeneous group of patients with different forms of the disease. In addition, many adverse reactions were observed in these patients.

Somatic CPEB4 and CPEB1 genes mutations spectrum on the prognostic predictive accuracy in patients with high-grade glioma and their clinical significance

Mohammad Reza Boustani, Farzad Mehrabi, Emad Yahaghi, Reza Jalili Khoshnood, Mohammadreza Shahmohammadi, Ebrahim Khodaveri Darian, Peyman Karimi Goudarzi

Glioblastoma (grade IV glioma/GBM) is characterized by extremely aggressive invasion and proliferative nature.

Thioredoxin as a marker for severity and prognosis of aneurysmal subarachnoid hemorrhage

Jun-Xia Dai, Jian-Yong Cai, Qun Lin, Xian-Dong Chen, Chuan Lu, Jun Sun, Hua-Jun Ba

Circulating levels of thioredoxin (Trx), a potent anti-oxidant that modulates inflammation, cell growth and apoptosis, are increased in various critical care conditions. The purpose of this study was to establish the relationship between serum Trx levels and prognosis of aneurysmal subarachnoid hemorrhage (aSAH).

The difference of apparent diffusion coefficient in the middle cerebellar peduncle among parkinsonian syndromes: Evidence from a meta-analysis

Wataru Sako, Nagahisa Murakami, Yuishin Izumi, Ryuji Kaji

The measurement of middle cerebellar peduncle (MCP) width allows for differential diagnosis between Parkinson's disease (PD) and multiple system atrophy with predominant parkinsonian features (MSA-P). However, it remains controversial whether apparent diffusion coefficient (ADC) value in the MCP of MSA-P is elevated or not. In the present study, we aimed to assess the usefulness of ADC value in the MCP for differential diagnosis between PD and MSA-P. An on-line literature search yielded 5 eligible studies.      

Cerebrovascular reactivity after treatment of unruptured intracranial aneurysms — A transcranial Doppler sonography and acetazolamide study

Marianne Lundervik Bøthun, Øystein Ariansen Haaland, Nicola Logallo, Frode Svendsen, Lars Thomassen, Christian A. Helland

Cerebrovascular reactivity (CVR) is defined as the change in cerebral blood flow, or blood velocity, in response to a vasoactive stimulus. There is a possible association between impaired CVR and vasospasm after aneurysmal subarachnoid hemorrhage. Most studies on CVR and vasospasm have used healthy subjects as reference. However, due to potential different vascular features, CVR in persons with intracranial aneurysms may differ from CVR in healthy subjects. Therefore, our aim was to examine CVR in patients with unruptured intracranial aneurysms (UIA).

Closed-loop auditory feedback for the improvement of gait in patients with Parkinson's disease

Yoram Baram, Judith Aharon-Peretz, Samih Badarny, Zvi Susel, Ilana Schlesinger

To study the effects of closed-loop auditory feedback cues, corresponding to patient self-motion, on the walking abilities of patients with Parkinson's disease, in comparison to the effects of open-loop (metronome-like) auditory cues.

Trends in scientific publishing: Dark clouds loom large

Pulikottil Wilson Vinny, Venugopalan Y. Vishnu, Vivek Lal

The world wide web has brought about a paradigm shift in the way medical research is published and accessed. The ease with which a new journal can be started/hosted by publishing start-ups is unprecedented. The tremendous capabilities of the world wide web and the open access revolution when combined with a highly profitable business have attracted unscrupulous fraudulent operators to the publishing industry. The intent of these fraudulent publishers is solely driven by profit with utter disregard to scientific content, peer reviews and ethics.

Diagnostic ability of 3-dimensional contrast-enhanced MR angiography in identifying vertebral basilar artery stenosis

Ting-yu Yi, Wen-huo Chen, Mei-fang Zhang, Yue-hong Chen, Ruo-wei Cai, Zong-zhong Wu, Yan-min Wu, Yan-chuan Shi, Bai-ling Chen, Ting-hui Guo, Chao-xin Wu, Miao-xiong Yang, Xue-jiao Chen

Vertebral-basilar artery stenosis is associated with posterior circulation infarction. So correct detection of vertebral basilar artery stenosis is very important. Studies concerning the sensitivity and specificity of 3-dimensional contrast enhanced MR angiography (3D-CE-MRA) in detecting vertebral basilar artery stenosis is generally lacking.

Selective impairment of attention networks during propofol anesthesia after gynecological surgery in middle-aged women

Chen Chen, Guang-hong Xu, Yuan-hai Li, Wei-xiang Tang, Kai Wang

Postoperative cognitive dysfunction is a common complication of anesthesia and surgery. Attention networks are essential components of cognitive function and are subject to impairment after anesthesia and surgery. It is not known whether such impairment represents a global attention deficit or relates to a specific attention network. We used an Attention Network Task (ANT) to examine the efficiency of the alerting, orienting, and executive control attention networks in middle-aged women (40–60 years) undergoing gynecologic surgery.

Effect of reading on blood flow changes in the posterior cerebral artery in early blind and sighted people — A transcranial Doppler study

Sandor Viski, David Orgovan, Katalin Szabo, Bernhard Rosengarten, Laszlo Csiba, Laszlo Olah

Neuroimaging studies proved that Braille reading resulted in visual cortex activation in blind people, however, very few data are available about the measure of flow increase in these subjects. Therefore, we investigated the flow response in the posterior cerebral artery (PCA) of eleven early blind and ten sighted subjects induced by reading Braille and print, respectively.

Xenon depresses aEEG background voltage activity whilst maintaining cardiovascular stability in sedated healthy newborn pigs

Hemmen Sabir, Thomas Wood, Hannah Gill, Xun Liu, John Dingley, Marianne Thoresen

Changes in electroencephalography (EEG) voltage range are used to monitor the depth of anaesthesia, as well as predict outcome after hypoxia-ischaemia in neonates. Xenon is being investigated as a potential neuroprotectant after hypoxic-ischaemic brain injury, but the effect of Xenon on EEG parameters in children or neonates is not known. This study aimed to examine the effect of 50% inhaled Xenon on background amplitude-integrated EEG (aEEG) activity in sedated healthy newborn pigs.

Regulation of P-glycoprotein efflux activity by Z-guggulsterone of Commiphora mukul at the blood-brain barrier

Hong-Bin Xu, Jing Yu, Lu-Zhong Xu, Jun Fu

The present study was to investigate whether Z-guggulsterone had the regulatory effect on the activity and expression of P-glycoprotein in rat brain microvessel endothelial cells (rBMECs) and in rat brain. Inorganic phosphate liberation assay, high performance liquid chromatography, and western blot analysis were performed to assess the P-glycoprotein ATPase activity, the accumulation of NaF and rhodamine 123, and P-glycoprotein and MRP1 expression. The results showed that Z-guggulsterone (0–100 μM) significantly enhanced basal P-glycoprotein ATPase activity in a concentration-dependent manner.      

Serum neuron specific enolase could predict subclinical brain damage and the subsequent occurrence of brain related vascular events during follow up in essential hypertension

Alina González-Quevedo, Sergio González-García, Zenaida Hernández-Díaz, Otman Fernández Concepción, Luis Quevedo Sotolongo, Marisol Peña-Sánchez, Benjamín Márquez Rosales, Rosaralis Santiesteban Freixas, Isabel Fernández-Almirall, María Caridad Menéndez-Sainz, Rebeca Fernández-Carriera

The object of this work was to explore if blood based biomarkers of brain damage could predict subclinical brain lesions and clinical outcome during follow-up in asymptomatic hypertensive patients. This was a cross-sectional study including 101 patients with essential hypertension and no clinical evidence of neurological disease and 53 healthy controls, followed by a longitudinal study of 62 hypertensive patients for an average of 33 months. Serum concentrations of two brain specific proteins (S100B and neuron specific enolase - NSE) were determined at inclusion.       

Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients

Eva Kassi, Anna Semaniakou, Amalia Sertedaki, Maria-Eleftheria Evangelopoulos, Theodosia Kazazoglou, Antonios Kominakis, Constantinos Sfagos, Evangelia Charmandari, George P. Chrousos, Paraskevi Moutsatsou

Various specific human glucocorticoid receptor (NR3C1) gene polymorphisms have been described in multiple sclerosis (MS) patients and correlated with disease progression, susceptibility and aggressiveness. Herein, we investigated the presence of gene alterations in the entire coding region of the NR3C1 in MS patients of variable clinical status (CIS, RRMS and SPMS) and the association(s) of these alterations with severity of disease (EDSS), response to glucocorticoid (GC) treatment and clinical improvement.

A clinical study on closing-in in focal brain-damaged individuals

Natascia De Lucia, Dario Grossi, Luigi Trojano

In visuo-constructional assessment, brain-damaged individuals may copy figures near to or superimposed on the model, showing the Closing-in (CI). CI has been largely investigated in dementia, and often ascribed to impairments of the attention/executive abilities ("Attraction hypothesis"). Only a few dated studies investigated frequency of CI in brain-damaged individuals, without clarifying the genesis of the phenomenon. We aimed at testing the "Attraction hypothesis" in 27 individuals with focal frontal cortical or sub-cortical brain lesions by a dual-task experimental paradigm.

Upregulation of spinal NMDA receptors mediates hydrogen sulfide-induced hyperalgesia

Shuang Zhao, Fei-Fei Liu, Yu-Ming Wu, Yu-Qing Jiang, Yue-Xian Guo, Xiu-Li Wang

Hydrogen sulfide (H2S) is an endogenous neurotransmitter that importantly regulates various physiological and pathological events including pain signal transduction. In this study, we investigated the role of spinal NMDA receptors in the nociception induced by intraplantar injection of NaHS, an H2S donor. Intraplantar injection of NaHS into hindpaw significantly decreased the paw withdrawal threshold (PWT) in contralateral hindpaw. However, intraplantar formalin injection did not produce PWT in contralateral hindpaw.

Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment

A. Cortese, D. Franciotta, E. Alfonsi, N. Visigalli, E. Zardini, L. Diamanti, P. Prunetti, C. Osera, M. Gastaldi, G. Berzero, A. Pichiecchio, G. Piccolo, A. Lozza, G. Piscosquito, E. Salsano, M. Ceroni, A. Moglia, G. Bono, D. Pareyson, E. Marchioni

Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our study was to describe the clinical features, diagnostic results, treatment and outcomes in a large cohort of patients with CCPD. Thirty-one patients entered this retrospective, observational, two-center study. In 20 patients (65%) CCPD presented, after an infection, as myeloradiculoneuropathy, encephalopathy, cranial neuropathy, length-dependent peripheral neuropathy, or pseudo-Guillain-Barré syndrome.

Alemtuzumab improves neurological functional systems in treatment-naive relapsing-remitting multiple sclerosis patients

Edward J. Fox, Daniel Wynn, Alasdair J. Coles, Jeffrey Palmer, David H. Margolin, on behalf of CAMMS223 Investigators

  • DOI: http://dx.doi.org/10.1016/j.jns.2016.02.025
  • p188–194
  • Published online: February 12 2016
  • Open Access
  • Abstract
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Individual functional system scores (FSS) of the Expanded Disability Status Scale (EDSS) play a central role in determining the overall EDSS score in patients with early-stage multiple sclerosis (MS). Alemtuzumab treatment improves preexisting disability for many patients; however, it is unknown whether improvement is specific to certain functional systems.

Intracerebral hemorrhage in patients after heart valve replacement

Kazutaka Nishimura, Masatoshi Koga, Kazuo Minematsu, Jun C. Takahashi, Kazuyuki Nagatsuka, Junjiro Kobayashi, Kazunori Toyoda

Although prevention of hematoma enlargement and thromboembolic complications is critically important in acute intracerebral hemorrhage (ICH) patients with prosthetic heart valves, clinical data are scarce. The goal of this study was to elucidate patient characteristics, acute treatments, and the clinical course of them.

Role of glyoxalase I gene polymorphisms in late-onset epilepsy and drug-resistant epilepsy

Hua Tao, Ligang Si, Xu Zhou, Zhou Liu, Zhonghua MA, Haihong Zhou, Wangtao Zhong, Lili Cui, Shuyan Zhang, You Li, Guoda Ma, Jianghao Zhao, Wenhui Huang, Lifen Yao, Zhien Xu, Bin Zhao, Keshen Li

Recent studies indicate that increased expression of glyoxalase I (GLO1) could result in epileptic seizures; thus, this study further explored the association of GLO1 with epilepsy from the perspective of molecular genetics.

Magnetic resonance imaging biomarkers indicate a central venous hypertension syndrome in patients with symptomatic pineal cysts

Per Kristian Eide, Are Hugo Pripp, Geir A. Ringstad

While most pineal cysts (PCs) are asymptomatic, some PCs are accompanied with symptoms of variable severity. We suggested that symptom severity in symptomatic patients with non-hydrocephalic PCs relates to venous compression causing central venous hypertension. This study explored whether possible magnetic resonance imaging (MRI) biomarkers of central venous hypertension could differentiate the severity of symptoms in individuals with non-hydrocephalic PCs.

Recent patterns and predictors of neurological mortality among hospitalized patients in Central Ghana

Fred Stephen Sarfo, Dominic Otto Awuah, Clara Nkyi, John Akassi, Ohene K. Opare-Sem, Bruce Ovbiagele

Although neurological disorders are projected to escalate globally in the coming decades, there is a paucity of enumerated data on the burden, spectrum and determinants of outcomes of adult neurological admissions in resource-limited settings, especially within sub-Saharan Africa.

Diffusion tensor imaging of the corticospinal tract and walking performance in multiple sclerosis

Elizabeth A. Hubbard, Nathan C. Wetter, Bradley P. Sutton, Lara A. Pilutti, Robert W. Motl

Research has identified a significant relationship between DTI (Diffusion Tensor Imaging) indices in the Corticospinal Tract (CST) and disability status in persons with multiple sclerosis (MS). To date, there is little known about the association between DTI indices of the CST with walking and gait outcomes in MS. This study examined the associations among DTI indices [fractional anisotropy (FA), radial diffusivity (RD), and axial diffusivity (AD)] of the CST with walking and gait outcomes in persons with MS.                            

Risk score to predict concurrent extracranial and intracranial artery stenosis in acute ischemic stroke

Lili Wang, Guoping Zhang, Yun Zhang, Rui Fu

The aim of this study was to develop and validate a risk score for predicting combined extracranial and intracranial artery stenosis (EICAS) in acute ischemic stroke patients.

Hypovitaminosis D association with disease activity in relapsing remitting multiple sclerosis in Brazil

Jefferson Becker, Dagoberto Callegaro, Marco Aurélio Lana-Peixoto, Natália Talim, Tamara Vidaletti, Marcelo de Paula Corrêa, Irenio Gomes

Multiple sclerosis (MS) onset is believed to result from a combination of environmental and genetic factors. A prevailing theory addresses the influence of hypovitaminosis D in the development of MS. This research aimed to study the association between vitamin D serum levels and MS, as a prognostic and risk factor for the development and progression of the disease. A cross-sectional multicenter study was conducted in patients with relapsing-remitting MS (n = 67), according to the revised McDonald criteria (2010), accompanied in three MS centers in different Brazilian states.                   

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

Nuha Alrayes, Hussein Sheikh Ali Mohamoud, Saleem Ahmed, Mona Mohammad Almramhi, Taghreed Mohammad Shuaib, Jun Wang, Jumana Yousuf Al-Aama, Kate Everett, Jamal Nasir, Musharraf Jelani

Autosomal recessive primary microcephaly (MCPH) refers to a genetically heterogeneous group of neurodevelopmental disorders in which patients exhibit a marked decrease in occipitofrontal head circumference at birth and a variable degree of intellectual disability. To date, 18 genes have been reported for MCPH worldwide. We enrolled a consanguineous family from Saudi Arabia presenting with primary microcephaly, developmental delay, short stature and intellectual disability. Whole exome sequencing (WES) with 100 × coverage was performed on two affected siblings after defining common regions of homozygosity through genome-wide single nucleotide polymorphism (SNP) microarray genotyping.

Overexpression of ubiquitin-specific protease 2a (USP2a) and nuclear factor erythroid 2-related factor 2 (Nrf2) in human gliomas

Mohammad Reza Boustani, Reza Jalili Khoshnood, Fermoozan Nikpasand, Zabihollah Taleshi, Koorosh Ahmadi, Emad Yahaghi, Peyman Karimi Goudarzi

Gliomas are among the most frequent adult primary brain tumors. Recent studies have shown that there are novel opportunities for developing therapeutics by targeting the differentiation and self-renewal features of glioma.

A DWI study of the contralateral hemisphere in cerebral hemiatrophy

Bilge Öztoprak, İbrahim Öztoprak, Hüseyin Bozkurt, Burhanettin Çiğdem, Özlem Kayım Yıldız

Cerebral hemiatrophy (CHA) is a congenital or acquired loss of volume in one hemisphere of the brain. The MR findings of the affected hemisphere have been a subject of many studies, however, the contralateral hemisphere has not been investigated. There is, in fact, an integrity between two hemispheres of the brain through transverse connection fibers. The aim of this study is to investigate the changes in the contralateral hemisphere in CHA.


Clinical Short Communications

HLA-DRB1*14 and DQB1*05 are associated with Japanese anti-MuSK antibody-positive myasthenia gravis patients

Tetsuya Kanai, Akiyuki Uzawa, Naoki Kawaguchi, Tateo Sakamaki, Yasumasa Yoshiyama, Keiichi Himuro, Fumiko Oda, Satoshi Kuwabara

Myasthenia gravis (MG) is an autoimmune disorder presumed to be associated with genetic susceptibility. This study aims to determine whether HLA is associated with MG in Japanese patients.

Gut microbiota composition and relapse risk in pediatric MS: A pilot study

Helen Tremlett, Douglas W. Fadrosh, Ali A. Faruqi, Janace Hart, Shelly Roalstad, Jennifer Graves, Susan Lynch, Emmanuelle Waubant, US Network of Pediatric MS Centers

We explored the association between baseline gut microbiota (16S rRNA biomarker sequencing of stool samples) in 17 relapsing-remitting pediatric MS cases and risk of relapse over a mean 19.8 months follow-up. From the Kaplan-Meier curve, 25% relapsed within an estimated 166 days from baseline. A shorter time to relapse was associated with Fusobacteria depletion (p = 0.001 log-rank test), expansion of the Firmicutes (p = 0.003), and presence of the Archaea Euryarchaeota (p = 0.037). After covariate adjustments for age and immunomodulatory drug exposure, only absence (vs.    

ALS patients with ability to communicate after long-term mechanical ventilation have confined degeneration to the motor neuron system

Yoko Mochizuki, Kentaro Hayashi, Yuki Nakayama, Toshio Shimizu, Masayuki Kamide, Mieko Ogino, Takashi Komori, Masato Hasegawa, Eiji Isozaki, Imaharu Nakano

To clarify the position in the amyotrophic lateral sclerosis (ALS) spectrum, of a subgroup of patients who maintained the ability to communicate after long-term mechanical ventilation (LTMV) by tracheostomy.


Letters to the Editor

The abduction deficit of functional convergence spasm

E. Anagnostou, P. Katsika, E. Kemanetzoglou, S. Vassilopoulou, K. Spengos

Bilateral sixth-nerve palsy may be a sign of sinister central nervous system pathology. In most instances, patients with an apparent bilateral weakness of abduction of the eyes frequently enter the hospital on an emergency basis for extensive investigation. Upon careful examination, however, many patients turn out to have convergence spasm (CS) or "spasm of the near reflex". CS has been described in various pathologies of the posterior fossa, but occurs much more frequently as a manifestation of a conversion disorder [1,2].

Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain

J.J. Zarranz, M. Fernandez-Martinez, O. Rodriguez, B. Mateos, S. Iglesias, J.-C. Baron

The article "Iowa-type hereditary CAA in a Polish family", published in the journal this year [1], reported the fourth family with the Iowa mutation. The first two were reported from France (a family of Spanish descent [2] whose genetic diagnosis was reported subsequently [3]) and Iowa (German descent) [4] in the early 2000's, and a third from Ireland (Irish descent) in 2014 [5]. We report here another family from Bilbao, Spain (Basque descent) because i) this further family supports the idea that this mutation is not that rare, and ii) the young asymptomatic mutation carrier had normal brain imaging, indicating the apparently pathognomonic occipital calcifications may be present only at later stages of the condition.

Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T > G mutation

Yukiko Iida, Katsunori Fujii, Hiromi Mizuochi, Shin-ichi Suwabe, Atsuko Wakui, Hideki Uchikawa, Naoki Shimojo

Leigh syndrome is a heterogeneous progressive neurodegenerative disorder which is characterized by focal or bilateral lesions in the basal ganglia, brainstem, cerebellum, and spinal cord [1]. Clinical manifestation usually includes diverse neurological deficits, such as developmental delay, dysphagia, seizures, respiratory failure, and brainstem malfunction [2]. One of the genes responsible for Leigh syndrome is a mitochondrial adenosine triphosphatase (ATP) 6 gene, which is involved in energy production, and the m.8993T > G as well as the m.8993T > C mutations in ATP6 comprises the most common mitochondrial mutations [3].

Poly (ADP-ribose) polymerase-1 (PARP-1) − 410C/T polymorphism in Sicilian patients with Parkinson's disease

Maria Grazia Salluzzo, Filomena I. Cosentino, Carmelo Romano, Francesco Scillato, Maria Concetta Morale, Rosanna Galati Rando, Federica Elia, Rosario S. Spada, Paolo Bosco, Michele Salemi

Parkinson's disease (PD) is one of the most common neurodegenerative disorders. PD is a chronic and progressive neurologic disorder characterized by the presence of intracytoplasmic inclusions, named Lewy bodies (LB), and by the degeneration of dopaminergic neurons in the substantia nigra. Most PD cases are sporadic, but about 15% of them are associated with genetic causes [1]. Apoptosis is a programmed cell death process under both normal physiological and pathological conditions, moreover, has been indicated as one of the important mechanisms leading to the death of dopaminergic neurons in the substantia nigra of PD patients [2].

Late onset Huntington's disease with 29 CAG repeat expansion

Pedro J. Garcia-Ruiz, Juan Garcia-Caldentey, Cici Feliz, Javier del Val, Antonio Herranz, Juan Carlos Martínez-Castrillo

Huntington's disease (HD) is associated with the expansion of cytosine-adenine-guanine (CAG) trinucleotide at the coding region of the IT 15 gene on chromosome 4 [1]. Patients with more than 36 repeats will develop the disease, and the onset age is inversely correlated with the length of the CAG repeat expansion. The 30–35 repeat range has been considered a "grey zone", since individuals with these intermediate alleles may or may not present neurological symptoms. However, the intermediate range definition has been modified over time, due to several reports of individuals presenting typical symptoms of HD with an expansion of fewer than 30 triplets [2].

Liposarcoma concurrence in a multiple sclerosis patient treated with interferon-beta 1b

Marija Bosnjak Pasic, Sanja Hajnsek, Miljenko Panajatovic, Branka Vidrih, Ivan Bohacek, Snježana Miskov

Multiple sclerosis (MS) is the most common demyelinating diseases of central nervous system (CNS). Misdirected immune responses to CNS myelin antigens are considered pivotal in MS pathogenesis [1]. It is believed that interferon beta 1b (IFN-β-1b) is beneficial in the treatment of relapsing remitting multiple sclerosis (RRMS) and secondary progressive multiple sclerosis (SPMS) as it has been shown in several clinical trials [2,3]. Even though it is assumed that the beneficial effect of IFN-β-1b is related to immunomodulation cells, the exact mechanisms of action of IFN-β-1b in MS remain unclear [4,5].