JNS-cover.jpgJournal of Neurological Sciences

Vol 354 | No. 1-2 | 15 July 2015 | Pages 1-144


Cognitive rehabilitation in multiple sclerosis: A systematic review

Micaela Mitolo, Annalena Venneri, Iain D. Wilkinson, Basil Sharrack

Cognitive impairment is a common clinical feature of multiple sclerosis (MS) at both the earlier and later stages of the disease, and has a significant impact on patients' functional status and quality of life. The need to address this deficit should be taken into account in clinical practice and research studies.


Original Articles

Improved identification of dystonic cervical muscles via abnormal muscle activity during isometric contractions

E. De Bruijn, S.W.R. Nijmeijer, P.A. Forbes, J.H.T.M. Koelman, F.C.T. van der Helm, M.A.J. Tijssen, R. Happee

The preferred treatment for cervical dystonia (CD) is injection of botulinum toxin in the dystonic muscles. Unfortunately, in the absence of reliable diagnostic methods it can be difficult to discriminate dystonic muscles from healthy muscles acting in compensation. We investigated if dystonic muscle activation patterns could be identified in cervical dystonia patients during a harmonized isometric contraction task. Furthermore, we investigated whether dystonia worsens at higher levels of voluntary contraction, which might further improve the identification of dystonic muscle activity.

Executive dysfunction in patients with transient ischemic attack and minor stroke

Peter Sörös, Michael Harnadek, Treena Blake, Vladimir Hachinski, Richard Chan

A considerable number of patients with transient ischemic attack suffer from cognitive impairment, even after recovery of focal neurological deficits. In particular, executive functions such as working memory, abstraction, reasoning, verbal fluency and cognitive flexibility are impaired in these patients. The purpose of the present study was to explore the nature and prevalence of cognitive impairment in a series of patients with transient ischemic attack and minor stroke.

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy

Juan Zhao, Zhaoxia Wang, Daojun Hong, He Lv, Wei Zhang, Juanjuan Chen, Yun Yuan

GNE myopathy is an autosomal recessive distal myopathy caused by biallelic mutation in the GNE gene. It shows great genetic heterogeneity among different ethnic groups. In this study, we summarized the mutational spectrum and clinical profiles in 35 unrelated GNE myopathy patients from mainland China. Molecular analysis revealed 16 novel (p.G47D, p.F66Y, p.E173A, p.Y186H, p.R246L, p.R263*, p.R306*, p.A366D, p.V512M, p.C520Y, p.G545R, p.G548S, p.V622G, p.A638P, IVS2 + 1G > A and c.2112delC) and 13 reported mutations.

S100B and ADMA in cerebral small vessel disease and cognitive dysfunction

Qiang Gao, Ying Fan, Lu-Yan Mu, Lan Ma, Zhi-Qiang Song, Yi-Na Zhang

Glial cell activation and endothelial dysfunction are thought to contribute to the pathophysiology of cerebral small vessel disease (SVD). The purpose of the present study was to determine if levels of S100B, a protein highly expressed in glial cells, and asymmetric dimethylarginine (ADMA), which promotes endothelial dysfunction, are elevated in the serum of patients with SVD and correlate with their cognitive functioning.

Pallidal and caudate volumes correlate with walking function in multiple sclerosis

Robert W. Motl, Elizabeth A. Hubbard, Niranjana Sreekumar, Nathan C. Wetter, Bradley P. Sutton, Lara A. Pilutti, Jacob J. Sosnoff, Ralph H.B. Benedict

Walking dysfunction is common in multiple sclerosis (MS). The thalamus and basal ganglia seemingly have important associations with walking performance. The contribution of these subcortical gray matter (SGM) structures for walking dysfunction is poorly understood in MS.

Anti-edema action of thyroid hormone in MCAO model of ischemic brain stroke: Possible association with AQP4 modulation

Prabodh Sadana, Lucy Coughlin, Jamie Burke, Robert Woods, Alexander Mdzinarishvili

The use of neuroprotective strategies to mitigate the fatal consequences of ischemic brain stroke is a focus of robust research activity. We have previously demonstrated that thyroid hormone (T3; 3,3′,5-triiodo-l-thyronine) possesses neuroprotective and anti-edema activity in pre-stroke treatment regimens when administered as a solution or as a nanoparticle formulation. In this study we have extended our evaluation of thyroid hormone use in animal models of brain stroke. We have used both transient middle cerebral artery occlusion (t-MCAO) and permanent (p-MCAO) models of ischemic brain stroke.

Is it safe to drive after acute mild stroke? A preliminary report

Megan A. Hird, Kristin A. Vesely, Leah E. Christie, Melissa A. Alves, Jitphapa Pongmoragot, Gustavo Saposnik, Tom A. Schweizer

Most guidelines recommend that patients should refrain from driving for at least one month after stroke. Despite these guidelines, and the fact that patients post-stroke may be at an increased risk for driving impairment, many patients report resuming driving within the acute phase of injury. The aim of this study was to investigate the driving performance of patients with acute mild stroke.

Does cerebrospinal fluid analysis add predictive value to magnetic resonance imaging for long term irreversible disability in patients with early multiple sclerosis?

Amandine Moroso, Mathilde S.A. Deloire, Aurélie Ruet, Jean-Christophe Ouallet, Romain Casey, Bruno Brochet

The independent prognostic value of cerebrospinal fluid analysis in multiple sclerosis is not established.

Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies

Jian Qu, Zhi-Quan Yang, Ying Zhang, Chen-Xue Mao, Zhi-Bin Wang, Xiao-Yuan Mao, Bo-Ting Zhou, Ji-Ye Yin, Hui He, Hong-Yu Long, Jia-E Gong, Bo Xiao, Hong-Hao Zhou, Zhao-Qian Liu

ATP1A2 and ATP1A3 are genes that code for catalytic subunits of Na/K-ATPases, which play important roles in the basal electrophysiological states of nerve cells. The aim of this study was to investigate whether genetic polymorphisms of ATP1A2 and ATP1A3 influence susceptibility to genetic generalized epilepsies (GGEs) and the efficacy of anti-epileptic drugs in a Chinese population.

The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations

Xiao Liu, Yuehuan Zuo, Wei Sun, Wei Zhang, He Lv, Yining Huang, Jiangxi Xiao, Yun Yuan, Zhaoxia Wang

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small artery disease caused by NOTCH3 gene mutation. Here we report clinical, pathological and genetic profiles of 29 newly-diagnosed CADASIL patients, evaluation of the CADASIL scale in Chinese CADASIL patients, and reanalysis of all reported mainland Chinese patients with identified NOTCH3 gene mutation. We found two novel mutations (p.C134G and p.C291Y) and 13 reported NOTCH3 mutations in the newly-diagnosed group.

Neuroprotective effect of ultra-high dose methylcobalamin in wobbler mouse model of amyotrophic lateral sclerosis

Ken Ikeda, Yasuo Iwasaki, Ryuji Kaji

High-dose of methylcobalamin promotes nerve regeneration in rats with acrylamide neuropathy. A double-blind controlled trial suggested that high-dose methylcobalamin could increase compound muscle action potentials in patients with amyotrophic lateral sclerosis (ALS). A large-scale extended period human trial is now on-going in ALS ( Clinicaltrial.gov NCT00444613 ). We attempted to study whether high-dose methylcobalamin can improve symptoms or retard progression of motor dysfunction in the wobbler mouse model of ALS.

Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7

Danielle C. Smith, Masharip Atadzhanov, Mwila Mwaba, Leslie Jacqueline Greenberg

Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin 7 gene, leading to a pathogenic polyglutamine tract within the ataxin 7 protein. SCA7 patients suffer from progressive cerebellar ataxia and macular degeneration. SCA7 is considered to be rare, although founder effects have been reported in South Africa, Scandinavia and Mexico. The South African SCA7-associated haplotype has not been investigated in any other populations, and there have been limited reports of SCA7 patients from other African countries.

Altered resting state functional network connectivity in children absence epilepsy

Qifu Li, Weifang Cao, Xiaoping Liao, Zhibin Chen, Tianhua Yang, Qiyong Gong, Dong Zhou, Cheng Luo, Dezhong Yao

Altered functional connectivity has been associated with the influence of epileptic activity. Abnormalities in connectivity, particularly in dorsal attention (DAN), salience (SN) and default mode (DMN) networks, might contribute to the loss of consciousness during seizures and cognitive deficits in patients with children absence epilepsy (CAE). The objective of the present study was to identify whether the functional network connectivity (FNC) is changed between patients with CAE and healthy controls.

JC virus granule cell neuronopathy: A cause of infectious cerebellar degeneration

Carole Henry, Fanny Jouan, Thomas De Broucker

JC virus (JCV) infection of glial cells can lead to progressive multifocal leukoencephalopathy (PML) in immunocompromised patients. A newly described phenotype of the infection is infection of neurons. This distinct clinical and radiological syndrome is named JCV granule cell neuronopathy, characterized by exclusive or predominant cerebellar atrophy. We report the clinical and radiological longitudinal findings of 5 HIV-infected patients referred to us between September 2004 and November 2011 who exhibited JCV granule cell neuronopathy (4 probable cases and 1 possible).

Impaired sleep-associated modulation of post-exercise corticomotor depression in multiple sclerosis

Agathe Bridoux, Alain Créange, Aude Sangare, Samar S. Ayache, Hassan Hosseini, Xavier Drouot, Jean-Pascal Lefaucheur

To compare the beneficial effect of nap versus rest on the recovery of motor evoked potentials (MEPs) after a fatiguing exercise performed in patients with multiple sclerosis (MS) and healthy controls.

Left atrial dilatation is associated with severe ischemic stroke in men with non-valvular atrial fibrillation

Tae-Won Kim, Sung-Woo Jung, In-Uk Song, Jaseong Koo, Hyun Seok Choi, Kwang-Soo Lee, Jeong-Wook Park, Hun-Jun Park, Joong-Seok Kim

Increased left atrial volume is an independent predictive factor of first ischemic stroke and other cardiovascular events in patients with non-valvular atrial fibrillation (NVAF). However, correlations between left atrial dilatation and ischemic stroke severity or ischemic lesion pattern have not been previously reported. The aim of this study was to evaluate whether left atrial enlargement is associated with worse initial stroke severity and lesion patterns.

Prophylactic treatment in menstrual migraine: A proof-of-concept study

Franziska Wickmann, Caspar Stephani, Dirk Czesnik, Florian Klinker, Charles Timäus, Leila Chaieb, Walter Paulus, Andrea Antal

The present study aimed to investigate the efficacy of repetitive cathodal direct current stimulation (rctDCS) over the visual cortex as a prophylactic treatment in patients with menstrual migraine. 20 female patients were recruited in this double-blind, placebo-controlled study and were assigned to receive either cathodal or sham stimulation. Over 3 menstrual cycles, tDCS with 2 mA intensity and 20 min duration was applied to the visual cortex of the patients, in 5 consecutive sessions 1–5 days prior to the first day of their menstruation.    


Letters to the Editor

Steroid-responsive autoimmune encephalopathy associated with autoimmune thyroiditis (SREAT) presenting with myoclonus-dystonia syndrome

Petra Bago Rožanković

Steroid-responsive autoimmune encephalopathy associated with autoimmune thyroiditis (SREAT), often called Hashimoto encephalopathy, is an uncommon neurological syndrome which can rarely be presented with the movement disorders. We describe a case with a progressive type of SREAT, primarily manifesting itself in the choreo-athetotic movements associated with dystonia and myoclonus.

Marinesco–Sjögren syndrome caused by a new SIL1 frameshift mutation

Chiara Cerami, Patrizia Tarantino, Chiara Cupidi, Grazia Annesi, Vincenzina Lo Re, Monica Gagliardi, Tommaso Piccoli, Aldo Quattrone

The Marinesco–Sjögren syndrome is a rare autosomal recessive disorder whose hallmark clinical features are cataracts, cerebellar ataxia, progressive myopathy and a various degree of delayed motor and/or mental development (MSS; OMIM 248800 ).

Differentiating primary central nervous system (CNS) lymphoma from "butterfly glioma": A case report

Andrey Bragin, Apostolos Safouris, Bram Bourgonjon, Alex Michotte, Nikos Triantafyllou, Georgios Tsivgoulis

While in immunocompetent patients the butterfly appearance of a brain tumor is highly suggestive of glioblastoma multiforme, primary CNS lymphoma (PCNSL) can mimic this pattern in immunocompromised patients. We present a case of PCNSL proven by brain biopsy in a patient with acquired immunodeficiency syndrome (AIDS).

Delayed Parkinsonism after acute chorea due to non-ketotic hyperglycemia

Tiago Teodoro, Patrícia Pita Lobo, João Ferreira, Rita Sousa, Sofia Reimão, Rita Peralta, Luísa Albuquerque, Joaquim J. Ferreira

We herein present the first report of Parkinsonism as a consequence of nonketotic hyperglycemia. A 68 year-old woman with a previous history of diabetes mellitus (non-insulin treated), complicated with sensory-motor mixed polyneuropathy, was admitted due to chorea of subacute onset (2 weeks duration). It was generalized, but markedly asymmetric, being more severe on the left side of her body. Observation also showed left facial paresis and hemiparesis and socks-pattern hypoesthesia for all sensory modalities.

Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

Karina Carvalho Donis, Eduardo Preusser Mattos, André Anjos Silva, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Jonas Alex Saute

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia associated with cone-rod and retinal dystrophy [1]. SCA7 is caused by a CAG repeat expansion (from 37 to 460 repeats) in the coding region of ATXN7 gene [1–3]. Expansion of the polyQ tract in the protein ataxin-7 leads to its accumulation in neuronal nuclear inclusions, and to selective neuronal and photoreceptor degeneration.

Blurred boundaries between organic and functional etiology: A man with a jerky leg

Rok Berlot, Milica Gregorič Kramberger, Jurij Dreo, Zvezdan Pirtošek, Maja Kojović

Traditionally, functional neurological symptoms have been thought of as arising from "the mind", but recent neurobiological advances are leading to their reappraisal. Challenging the split between "organic" and "psychogenic", we present a patient with clinical features of a clear functional movement disorder, but with a mass lesion possibly associated with the presentation.

Vagus nerve stimulation therapy is effective and safe for startle-induced seizures

Júlia Miró, Sònia Jaraba, Jaume Mora, Oriol Puig, Sara Castañer, Laura Rodriguez-Bel, Mila Santurino, Gerard Plans, Mercè Falip

Startle epilepsy has been included as one syndrome of reflex epilepsies in the last classification of the International League Against Epilepsy (ILAE) [1]. Startle-induced seizures (SISs) are often very resistant to antiepileptic drugs and are disabling. SISs consist of brief (up to 30 s) symmetrical or asymmetrical tonic posturing of the limbs. The triggers are unexpected somatosensory, or auditory stimuli or even visual stimuli. Falling due to SISs restricts the patients' daily activities [2]. Magnetic resonance imaging (MRI) often shows abnormalities suggestive of prenatal, perinatal or postnatal insults that predominate over the sensorimotor cortex [3].

Arterial spin-labeling magnetic resonance imaging for diagnosis of early seizure after stroke

Yosuke Miyaji, Yuichi Kawabata, Hideto Joki, Shunsuke Seki, Kentaro Mori, Tomoya Kamide, Akira Tamase, Motohiro Nomura, Yoshihisa Kitamura, Fumiaki Tanaka

Arterial spin-labeling (ASL) is a non-contrast-enhanced sequence of magnetic resonance imaging (MRI) to evaluate cerebral perfusion. ASL has been widely used in cerebrovascular diseases [1]. Previously, we reported the use of ASL for the diagnosis of late seizure after stroke [2]. Here we report a first case of ASL in a patient with early seizure after stroke.

An autopsy case of elderly-onset acute necrotizing encephalopathy secondary to influenza

Nobuyuki Ishii, Hitoshi Mochizuki, Sayaka Moriguchi-Goto, Masayuki Shintaku, Yujiro Asada, Akitoshi Taniguchi, Kazutaka Shiomi, Masamitsu Nakazato

Influenza-associated encephalopathy (IAE), which can lead to acute necrotizing encephalopathy (ANE), often appears as low-density areas (LDAs) in the thalamus bilaterally on brain CT. In addition, histopathological examination of LDAs reveals necrotic tissue compatible with ANE [1]. In previous studies, most patients with IAE were under 5 years of age; adult-onset IAE is globally very rare [2]. Here, we present the first case of elderly-onset IAE–ANE confirmed by autopsy. The study protocol was approved by the Ethics Committee of the University of Miyazaki.

Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation

Atsuhiko Sugiyama, Setsu Sawai, Shoichi Ito, Hiroki Mukai, Minako Beppu, Tomokatsu Yoshida, Satoshi Kuwabara

Alexander disease (AD) is pathologically characterized by accumulation of Rosenthal fibers, which comprise glial fibrillary acidic protein (GFAP) and αB-crystalline and heat shock protein 27 in the cytoplasm of perivascular and subpial astrocyte end feet. Based on age of onset, three forms of AD, caused by GFAP mutation, are recognized: infantile, juvenile, and adult [1,2]. Following GFAP identification and diagnostic magnetic resonance imaging (MRI), cases of adult-onset AD (AOAD) are being described with increasing frequency.

Permanent reversal of essential tremor following a frontal lobe stroke

Moussa A. Chalah, Samar S. Ayache, Naji Riachi, Rechdi Ahdab

Following a right prerolandic stroke, a 76 year old woman with bilateral upper extremity essential tremor (ET) recovered permanently from the latter contralaterally to the affected hemisphere. The ischemic stroke likely interrupted the cortical component of the ET network. Given the magnitude of neuronal loss, post-stroke cortical reorganization was unable to restore this important component of the ET network, accounting for the permanent nature of ET suppression.

Goodpasture syndrome and posterior reversible encephalopathy syndrome

Carlos R. Camara-Lemarroy, Miguel A. Cruz-Moreno, Rafael N. Gamboa-Sarquis, Kiber A. Gonzalez-Padilla, Hector E. Tamez-Perez, Dionicio A. Galarza-Delgado

Dear Editor: Goodpasture's syndrome (GS) is a rare autoimmune disease that is mediated by anti-glomerular basement membrane (anti-GBM) antibodies. It is responsible for 5% of all cases of glomerulonephritis in adults and results in acute renal failure in about half of patients if not treated promptly with immunosuppressive drugs and plasma exchange [1,2]. GS is characterized by rapidly progressive glomerulonephritis and occasionally by pulmonary hemorrhage, induced by antibody binding to glomerular and lung basement membrane [1,2].

Olfactory hallucinations as primary symptom for ischemia in the right posterior insula

Lena-Alexandra Beume, Alexander Klingler, Matthias Reinhard, Wolf D. Niesen

A 55-year-old female presented with olfactory hallucinations of "burned hair" shortly before developing a sensorimotor hemiparesis of the left side and visuospatial neglect. On admission, her National Institutes of Health Stroke Scale score (NIHSS) was 11; her vital signs and the remainder of the physical exam were unremarkable. Cerebral MRI (1.5 Tesla, Siemens Avanto) showed an ischemic lesion with restricted diffusion involving about 20% of the right middle cerebral artery (MCA) territory. The infarcted area included the posterior insula and pre- and postcentral gyrus (Fig. 1A) and resulted from an occlusion of the M2 segment of the right MCA.      

Deterioration of pre-existing hemiparesis due to an ipsilateral internal capsule infarction after a contralateral stroke

Zen Kobayashi, Miho Akaza, Hiroshi Endo, Yoshiyuki Numasawa, Hiroyuki Tomimitsu, Shuzo Shintani

Although hemiparesis due to an ipsilateral brain lesion is rare in clinical practice, various pathomechanisms related to this condition have been reported [1–7]. Above all, deterioration of pre-existing hemiparesis due to an ipsilateral brain infarction after a contralateral stroke has been reported in two studies [1,2]. Ago's patient [1], who had left hemiparesis associated with right putaminal hemorrhage, presented with deterioration of the left hemiparesis related to left corona radiata infarction.



Corrigendum to "Analysis of differentially expressed lncRNAs in differentiation of bone marrow stem cells into neural cells" [J Neurol Sci 351 (2015) 160–167]

Ai-Min Wu, Wen-Fei Ni, Zhe-Yu Huang, Qing-Long Li, Jian-Bo Wu, Hua-Zi Xu, Li-Hui Yin

Some typo-graphical errors have been found in the above-mentioned paper. Fig. 8 was missed, and Fig. 9 was mistakenly marked as Fig. 8. The corrected figures are as follows:...