JNS-cover.jpgJournal of Neurological Sciences

Vol 344 | No. 1-2 | 15 September 2014 | Pages 1-254


Article TitleAuthor(s)Pages

Tumefactive multiple sclerosis and fingolimod

25 June 2014

In this issue of the journal, Dr. Hellmann and colleagues report a case of tumefactive demyelinating lesion (TDL) in a young woman with multiple sclerosis after starting fingolimod along with a review...

Jesus Lovera, Nicole Villemarette-Pittman 1-2

Tracheostomy ventilation in ALS: A Japanese bias

30 June 2014

Patients with Amyotrophic Lateral Sclerosis (ALS) usually die from respiratory complications such as Acute Respiratory Failure (ARF) due to an ineffective cough, difficulty clearing respiratory secret...

Andrea Vianello, Alessandra Concas 3-4


Article TitleAuthor(s)Pages

Fabry's disease

23 June 2014

Abstract: Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of glycosphingo...

Rima El-Abassi, Divya Singhal, John D. England 5-19

Original Articles

Article TitleAuthor(s)Pages

FK506-loaded chitosan conduit promotes the regeneration of injured sciatic nerves in the rat through the upregulation of brain-derived neurotrophic factor and TrkB

16 June 2014

Abstract: FK506 has been shown to exert neurotrophic and neuroprotective effects, but its long-term application for nerve regeneration is limited. This study evaluated the potential application of a n...

Jia Zhao, Xifu Zheng, Chongyang Fu, Wei Qu, Guoqiang Wei, Weiguo Zhang 20-26

Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics

16 June 2014

Abstract: Background and purpose: Smoking greatly increases the risk of atherosclerotic plaque and the effect may vary from individual to individual. A genome-wide scan was performed for smoking×singl...

David Della-Morte, Liyong Wang, Ashley Beecham, Susan H. Blanton, Hongyu Zhao, Ralph L. Sacco, Tatjana Rundek, Chuanhui Dong 27-31

Global brain atrophy but not hippocampal atrophy is related to type 2 diabetes

16 June 2014

Abstract: Aims: It has been suggested that in patients with type 2 diabetes mellitus (T2DM), brain atrophy is most pronounced in the hippocampus, but this has not been investigated systematically. The...

Laura E.M. Wisse, Jeroen de Bresser, Mirjam I. Geerlings, Yael D. Reijmer, Marileen L.P. Portegies, Manon Brundel, L. Jaap Kappelle, Yolanda van der Graaf, Geert Jan Biessels, on behalf of the Utrecht Diabetic Encephalopathy Study Group and the SMART-MR Study Group 32-36

Clinical and genetic analysis in alternating hemiplegia of childhood: Ten new patients from Southern Europe

19 June 2014

Abstract: Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder featuring attacks of hemiplegia and other paroxysmal and non-paroxysmal manifestations leading to progressive ...

Marta Vila-Pueyo, Roser Pons, Miquel Raspall-Chaure, Anna Marcé-Grau, Oriel Carreño, Cèlia Sintas, Bru Cormand, Mercè Pineda-Marfà, Alfons Macaya 37-42

Changes and expressions of Redd1 in neurons and glial cells in the gerbil hippocampus proper following transient global cerebral ischemia

20 June 2014

Abstract: Redd1 (known as RTP801/Dig2/DDIT4) is a stress-induced protein, and it is known to be regulated in response to some stresses including hypoxia and oxidative stress. In the present study, we ...

Choong Hyun Lee, Joon Ha Park, Jeong-Hwi Cho, Ji Hyeon Ahn, Bing Chun Yan, Jae-Chul Lee, Myoung Cheol Shin, Seung Hwan Cheon, Young Shin Cho, Jun Hwi Cho, Young-Guen Kwon, Dong-Keon Lee, Young-Myeong Kim, Moo-Ho Won 43-50

Autonomic evaluation is independent of somatic evaluation for small fiber neuropathy

20 June 2014

Abstract: Background: The relationship between the autonomic reflex screening test (ARS) and measures of sensory function and structure (quantitative sensory testing (QST) and intraepidermal nerve fib...

Pariwat Thaisetthawatkul, J. Americo Fernandes Filho, David N. Herrmann 51-54

Interplay between polymorphisms in the endothelial nitric oxide synthase (eNOS) gene and metabolic syndrome in determining the risk of ischemic stroke in Koreans

20 June 2014

Abstract: Background: Endothelial nitric oxide synthase (eNOS) gene variants are known to play a role in atherosclerotic development. However, whether interplay between eNOS polymorphisms and metaboli...

Min Kyu Kang, Ok Joon Kim, Young Joo Jeon, Hyun Sook Kim, Seung Hun Oh, Jin Kwon Kim, Eo Jin Kim, Tae Sun Hwang, Nam Keun Kim 55-59

The value of comparing mortality of Guillain–Barré syndrome across different regions

23 June 2014

Abstract: Objective: To study the clinical profile of Guillain–Barré syndrome (GBS) patients who died in 4 Asian countries in order to understand factors underlying any variation in mortality. Methods...

A.H.Y. Wong, T. Umapathi, N. Shahrizaila, Y.C. Chan, N. Kokubun, M.K. Fong, Y.P. Chu, P.K. Lau, N. Yuki 60-62

Utility of the Spanish version of the FTLD-modified CDR in the diagnosis and staging in frontotemporal lobar degeneration

23 June 2014

Abstract: Introduction: The Clinical Dementia Rating Scale (CDR) is a tool designed to quantify the severity of dementia symptoms and is also useful to assess disease progression, in Alzheimer's disea...

Griselda Russo, María Julieta Russo, Daniela Buyatti, Patricio Chrem, Pablo Bagnati, Marcos Fernández Suarez, Jorge Campos, Gabriela Cohen, Alejandra Amengual, Ricardo F. Allegri, David S. Knopman 63-68

Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A to be associated with acute onset ischemic stroke in young Asian Indians

23 June 2014

Abstract: Introduction: Nitric oxide levels and NOS3 gene variants play a pivotal role in the development of vascular diseases/stroke. We attempted to determine the role of NOS3 gene variants and plas...

Mohd Suhail Akhter, Arijit Biswas, Hina Rashid, Luxmi Devi, Madhuri Behari, Renu Saxena 69-75

Intramuscular distribution of botulinum toxin—Visualized by MRI

23 June 2014

Abstract: Objective: A precise knowledge of the spread of botulinum toxin (BoNT) in muscle tissue is required to efficiently access endplate zones and increase BoNT's therapeutic efficacy. Here, we ai...

K. Elwischger, G. Kasprian, M. Weber, M. Meyerspeer, C. Linder, E. Auff, D. Prayer, T. Sycha, G. Kranz 76-79

Patient centered decision making: Use of conjoint analysis to determine risk–benefit trade-offs for preference sensitive treatment choices

25 June 2014

Abstract: Understanding patient preferences facilitates shared decision-making and focuses on patient-centered outcomes. Little is known about relapsing–remitting multiple sclerosis (RRMS) patient pre...

Leslie Wilson, Aimee Loucks, Christine Bui, Greg Gipson, Lixian Zhong, Amy Schwartzburg, Elizabeth Crabtree, Douglas Goodin, Emmanuelle Waubant, Charles McCulloch 80-87

Physiological variation of retinal layer thickness is not caused by hydration: A randomised trial

03 July 2014

Abstract: There is evidence for physiological variation of retinal thicknesses as determined by optical coherence tomography (OCT). We tested if such changes could be explained by hydration and would ...

Lisanne J. Balk, Timm Oberwahrenbrock, Bernard M.J. Uitdehaag, Axel Petzold 88-93

The endogenous α7 nicotinic acetylcholine receptor antagonist kynurenic acid modulates amyloid-β-induced inflammation in BV-2 microglial cells

25 June 2014

Abstract: Amyloid-β has been shown to interact with the α7 nicotinic acetylcholine receptor on neuronal cells. Not much is known on the effect on microglial cells and whether this effect can be modula...

Levke Steiner, Maike Gold, David Mengel, Richard Dodel, Jan-Philipp Bach 94-99

Formononetin mediates neuroprotection against cerebral ischemia/reperfusion in rats via downregulation of the Bax/Bcl-2 ratio and upregulation PI3K/Akt signaling pathway

24 June 2014

Abstract: Isoflavone formononetin is a typical phytoestrogen isolated from Chinese medical herb red clover. It has been reported that estrogens have neuroprotective properties, and dietary intake of p...

Kun Liang, Yu Ye, Yong Wang, Jianfeng Zhang, Chaoqian Li 100-104

Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: A role for oxidative stress in GA I neuropathology

24 June 2014

Abstract: We evaluated the antioxidant defense system and protein oxidative damage in the brain and liver of 15-day-old GCDH deficient knockout (Gcdh−/−) mice following an acute intraperitoneal admini...

Bianca Seminotti, Rafael Teixeira Ribeiro, Alexandre Umpierrez Amaral, Mateus Struecker da Rosa, Carolina Coffi Pereira, Guilhian Leipnitz, David M. Koeller, Stephen Goodman, Michael Woontner, Moacir Wajner 105-113

Alpha–theta border EEG abnormalities in preclinical Huntington's disease

26 June 2014

Abstract: Background: Brain dysfunction precedes clinical manifestation of Huntington's disease (HD) by decades. This study was aimed to determine whether resting EEG is altered in preclinical HD muta...

Natalya Ponomareva, Sergey Klyushnikov, Natalya Abramycheva, Daria Malina, Nadejda Scheglova, Vitaly Fokin, Irina Ivanova-Smolenskaia, Sergey Illarioshkin 114-120

Retrospective study of a TTR FAP cohort to modify NIS+7 for therapeutic trials

30 June 2014

Abstract: Protein stabilization and oligonucleotide therapies are being tested in transthyretin amyloid polyneuropathy (TTR FAP) trials. From retrospective analysis of 97 untreated TTR FAP patients, w...

N. Suanprasert, J.L. Berk, M.D. Benson, P.J.B. Dyck, C.J. Klein, J.A. Gollob, B.R. Bettencourt, V. Karsten, P.J. Dyck 121-128

Mesencephalic astrocyte-derived neurotrophic factor prevents neuron loss via inhibiting ischemia-induced apoptosis

30 June 2014

Abstract: Mesencephalic astrocyte-derived neurotrophic factor (MANF) has been shown to be up-regulated under the focal cerebral ischemia and protected against ischemic injury in rats. However, the und...

Wen Yang, Yujun Shen, Ying Chen, Lu Chen, Le Wang, Haiping Wang, Shengchun Xu, Shengyun Fang, Yu Fu, Yongqiang Yu, Yuxian Shen 129-138

Prevalence of Willis–Ekbom disease in rural coastal Ecuador. A two-phase, door-to-door, population-based survey

30 June 2014

Abstract: Objective: To estimate the prevalence of Willis–Ekbom disease (WED) in a racially homogeneous population of adults Amerindians living in rural coastal Ecuador, and to assess the reliability ...

Oscar H. Del Brutto, Victor J. Del Brutto, Mauricio Zambrano, Pablo R. Castillo 139-142

Treatment outcome in carpal tunnel syndrome: Does distribution of sensory symptoms matter?

02 July 2014

Abstract: Background: Patients with complaints of carpal tunnel syndrome (CTS) with signs and symptoms not exclusively confined to the median nerve territory, but otherwise fulfilling the clinical cri...

Franka Claes, Kristel M. Kasius, Jan Meulstee, J. André Grotenhuis, Wim I.M. Verhagen 143-148

Association study of two steroid biosynthesis genes (COMT and CYP17) with Alzheimer's disease in the Italian population

01 July 2014

Abstract: The greater predisposition of women to Alzheimer's disease (AD), owing to the decrease in postmenopausal estrogen, may be influenced by polymorphic variation in genes regulating estrogen met...

Rosa Maria Corbo, Giuseppe Gambina, Elisabetta Broggio, Daniela Scarabino, Renato Scacchi 149-153

Association of heme oxygenase-1 gene rs2071746 polymorphism with vascular outcomes in patients with atherosclerotic stroke

01 July 2014

Abstract: As an inducible isoform of heme oxygenase (HO), HO-1 was suggested to have an anti-oxidative stress, anti-inflammatory, anti-apoptotic and anti-proliferative effect. It was regarded as an im...

Liping Cao, Zhizhong Zhang, Biyang Cai, Wen Bai, Yumeng Zhang, Wenshan Sun, Xia Xie, Wen Sun, Qiankun Cai, Zhuangli Li, Dezhi Liu, Yunyun Xiong, Minmin Ma, Xinfeng Liu, Gelin Xu 154-157

Tracheostomy and invasive ventilation in Japanese ALS patients: Decision-making and survival analysis: 1990–2010

03 July 2014

Abstract: Objective: To evaluate the factors related to the choice of a tracheostomy and invasive ventilation in amyotrophic lateral sclerosis patients and to determine survival time after a tracheost...

Muneyoshi Tagami, Fumiharu Kimura, Hideto Nakajima, Shimon Ishida, Shinya Fujiwara, Yoshimitsu Doi, Takafumi Hosokawa, Kazushi Yamane, Kiichi Unoda, Takahiko Hirose, Hiroki Tani, Shin Ota, Takumi Ito, Masakazu Sugino, Keiichi Shinoda, Toshiaki Hanafusa 158-164

Autonomic dysfunction in chronic persistent dizziness

01 July 2014

Abstract: Objective: To investigate the autonomic dysfunction in patients with chronic persistent dizziness using standardized autonomic function tests. Methods: We prospectively recruited 18 patients...

Hyung Lee, Hyun-Ah Kim 165-170

Is it time for a new global classification of multiple sclerosis?

01 July 2014

Abstract: Background: The geographic distribution of multiple sclerosis (MS) is classically divided into three zones based on frequency that were established by Kurtzke in the early 1970s. In recent y...

Mario O. Melcon, Jorge Correale, Carlos M. Melcon 171-181

Virtual reality walking and dopamine: Opening new doorways to understanding freezing of gait in Parkinson's disease

03 July 2014

Abstract: Freezing of gait (FOG) is a disabling form of gait disturbance that is common in the advanced stages of Parkinson's disease (PD). Despite its prevalence, methods of studying and assessing FO...

E. Matar, J.M. Shine, S.L. Naismith, S.J.G. Lewis 182-185

Association between nocturnal/supine hypertension and restless legs syndrome in patients with Parkinson's disease

03 July 2014

Abstract: Background and objective: Autonomic disturbances and sleep problems are common non-motor symptoms in patients with Parkinson's disease (PD). Orthostatic hypotension, supine hypertension (SH)...

Yoon-Sang Oh, Joong-Seok Kim, In-Seok Park, In-Uk Song, Young-Min Son, Jeong-Wook Park, Dong-Won Yang, Hee-Tae Kim, Kwang-Soo Lee 186-189

Short Communications

Article TitleAuthor(s)Pages

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia

19 June 2014

Abstract: THAP1 mutations are associated with idiopathic isolated dystonia in different ethnicities, but the importance of this gene as a cause of dystonia in the Brazilian population has not been det...

Francisco Pereira da Silva-Junior, Camila Oliveira dos Santos, Sonia Maria Cesar Azevedo Silva, Egberto Reis Barbosa, Vanderci Borges, Henrique Ballalai Ferraz, João Carlos Papaterra Limongi, Maria Sheila Guimarães Rocha, Patricia de Carvalho Aguiar 190-192

Tumefactive demyelination and a malignant course in an MS patient during and following fingolimod therapy

19 June 2014

Abstract: Finglimod, a sphingosine 1-phosphate receptor modulator, is the first orally administered therapy approved for prophylaxis in multiple sclerosis (MS). Several reports in the last two years s...

M.A. Hellmann, N. Lev, I. Lotan, R. Mosberg-Galili, E. Inbar, J. Luckman, S. Fichman-Horn, M. Yakimov, I. Steiner 193-197

Low signal intensity in U-fiber identified by susceptibility-weighted imaging in two cases of progressive multifocal leukoencephalopathy

20 June 2014

Abstract: Magnetic resonance imaging (MRI) is a useful tool for diagnosing and monitoring progressive multifocal leukoencephalopathy (PML). Although characteristic MRI findings of PML are well known, ...

Mai Miyagawa, Masayuki Maeda, Maki Umino, Ken Kagawa, Kazuo Nakamichi, Hajime Sakuma, Hidekazu Tomimoto 198-202

Motor neuronopathy in Chediak–Higashi syndrome

23 June 2014

Abstract: Chediak–Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, recurrent pyogenic infections and the presence of giant granules in many cell...

S. Mathis, P. Cintas, G. de Saint-Basile, L. Magy, B. Funalot, J.-M. Vallat 203-207

Granulomatosis with polyangiitis presenting with pachymeningitis

02 July 2014

Abstract: Observations: This case report describes a 75year-old Caucasian male who initially presented with persistent daily headaches. Physical exam elicited multiple cranial nerve palsies. Gadoliniu...

Nasarachi E. Onyeuku, Nikhil Balakrishnan, Michael S. Cartwright 208-209

Reduced spontaneous sympathetic nerve activity in multiple sclerosis patients

03 July 2014

Abstract: For the first time, we obtained direct intra-neural measurements of muscle sympathetic nerve activity (MSNA) in relapsing–remitting multiple sclerosis (MS) patients to test the hypothesis th...

David M. Keller, Paul J. Fadel, Melissa A. Harnsberger, Gina M. Remington, Elliot M. Frohman, Scott L. Davis 210-214

Letters to the Editor

Article TitleAuthor(s)Pages

Intractable pneumococcal meningoencephalitis associated with a TNF-α antagonist

28 May 2014

Abstract: A 34-year-old man was treated with a TNF-α antagonist for ankylosing spondylitis, and this subsequently developed a CNS infection. Magnetic resonance imaging showed diffuse subcortical white...

Seok-Jae Kang, Hyun Young Kim, Young Seo Kim, Ha Neul Lee, Hee Tae Kim, Seung H. Kim 215-218

Unilateral mydriatic tonic pupil as an early isolated symptom of neurosyphilis

16 June 2014

Tadayuki Takata, Masaki Kamada, Kazuyo Ikeda, Kodai Kume, Yohei Kokudo, Tetsuo Touge, Kazushi Deguchi, Tsutomu Masaki 219-220

Misconceptions surrounding the genetic susceptibility to ischemic stroke

19 June 2014

I have read with interest a recent report by Ye and coworkers on the putative role of ALOX5AP variants in ischemic stroke . In their report, the authors claim a significant effect of a common SNP on t...

P.G. Sand 221

Responses to: Misconceptions surrounding the genetic susceptibility to ischemic stroke

19 June 2014

We thank Dr. Sand PG for the comments on our paper titled: Three polymorphisms of ALOX5AP and risk of ischemic stroke in Chinese: Evidence from a meta-analysis .

Fei Ye, Nan-Nuan Liu, Yong-Qiang Zheng, Wen-Jun Zhang 222

Global clinical neuroscience: Journey of a thousand miles begins with a single step

19 June 2014

We read with great interest a recent high-profile article by Dr. Birbeck and colleagues about current global opportunities and challenges facing clinical neurosciences . Indeed, we agree with them tha...

Mayowa O. Owolabi, Bruce Ovbiagele 223

A central nervous system B-cell lymphoma arising two years after initial diagnosis of CLIPPERS

20 June 2014

Guillaume Taieb, Emmanuelle Uro-Coste, Michel Clanet, Hans Lassmann, Alexandra Benouaich-Amiel, Camille Laurent, Marie-Bernadette Delisle, Pierre Labauge, David Brassat 224-226

Stereotypy after cerebellar infarction

20 June 2014

Stereotypy is operationally defined as a non-goal-directed continuous or continual repetition of the same movements . Differential diagnosis from similar disorders can be made based on the presence of...

Dongwhane Lee, Dokyung Lee, Tae-Beom Ahn 227-228

Lambrolizumab induced central nervous system (CNS) toxicity

23 June 2014

Jacob J. Mandel, Adriana Olar, Kenneth D. Aldape, Ivo W. Tremont-Lukats 229-231

An illustrative case of mixed pesticide poisoning with remarkable improvement: A case report

23 June 2014

Keon-Joo Lee, Jung-Won Shin, Jangsup Moon, Jung-Ah Lim, Jung-Ick Byun, Tae-Joon Kim, Yong-Won Shin, Soon-Tae Lee, Keun-Hwa Jung, Sang Kun Lee, Kon Chu 232-233

Primary leptomeningeal CNS lymphoma presenting as bilateral facial nerve palsy

26 June 2014

Bilateral Facial Nerve Palsy (BFNP) is an extremely rare condition that can occur in the central nervous system (CNS) infectious diseases (Lyme disease, meningitis, syphilis), immuno-inflammatory diso...

M. Gastaldi, A. Ferrario, C. Basilico, M. Merli, M. Mauri, M.G. Tibiletti, F. Passamonti, D. Franciotta, G. Bono 234-235

Endothelin-1: A potential pathological factor in Parkinson's disease? —From endoplasmic reticulum stress to beyond

30 June 2014

Last year marked the 25th anniversary of the discovery of endothelin (ET)-1 in 1988. In this time, there has been extensive research on ET-1 in physiology, as well as pathology, with countless publica...

Arjun Jain 236-237

Dengue-associated hypokalemic paralysis

30 June 2014

The recent article on "Dengue-associated hypokalemic paralysis" is very interesting . Malhotra and Garg noted that "curious is the fact that only 35 patients had manifest-paralysis when more than two-...

Beuy Joob, Viroj Wiwanitkit 238

Dengue-associated hypokalemic paralysis: Causal or incidental?

30 June 2014

We thank Dr. Joob and Dr. Wiwanitkit for expressing their interest in the article "Dengue-associated hypokalemic paralysis: Causal or incidental?" . Their assertion that "dengue-associated hypokalemic...

Hardeep Singh Malhotra, Ravindra Kumar Garg 239

The role of hydrocephalus in the development of Chiari I malformation and syringomyelia

30 June 2014

A minority of patients with Chiari I malformation (CIM) and syringomyelia are reported to have hydrocephalus. Currently the role of hydrocephalus in the development of CIM/syringomyelia still remains ...

Lili Wen, Chiyuan Ma, Handong Wang, Zhigang Hu 240-242

Hirayama disease and immunoglobulin A deficiency: A coincidence or a syndrome

04 July 2014

Hirayama disease (HD) is a rare lower motor neuron syndrome with characteristic features of wasting and weakness of muscles involving unilateral or asymmetrical upper limbs or unilateral lower limb. I...

Mariya Petrova, Olga Grigorova, Latchezar Penev, Latchezar Traykov 243-244

Acknowledgement to Reviewers