JNS-cover.jpgJournal of Neurological Sciences

Vol 349 | No. 1-2 | 15 February 2015 | Pages 1-272


Co-existence of tumefactive MS and hepatitis C: A need for further screening and new therapeutic challenge

Jeanie McGee, Alireza Minagar

Multiple sclerosis (MS) is a chronic and usually progressive disease of the human central nervous system, which is characterized by inflammatory demyelination and neurodegeneration. The cause or what triggers the first demyelinating event in MS remains unrecognized and many MS researchers have hypothesized that an initial infection or past exposure to certain infective agents such as common viruses eventually triggers the unstoppable immune response in pathophysiology of MS. The authors of this interesting case have done an excellent job describing an unusual case of tumefactive MS in a patient who also tested seropositive for hepatitis C.


Epigenetic mechanisms in Parkinson's disease

Ya Feng, Joseph Jankovic, Yun-Cheng Wu

Parkinson's disease (PD) is the second most common age-related neurodegenerative disease, but its pathogenesis is not fully understood. The selective neuronal cell death in PD has been considered to result from a complex interaction between genetic and environmental factors, but the nature of the relationship between the two chief modifiers remains to be elucidated. There is a growing body of evidence supporting the role of epigenetics in the development and progression of many neurodegenerative diseases including PD.

Immunological differences between classical phenothypes of multiple sclerosis

Piotr Iwanowski, Jacek Losy

Multiple sclerosis (MS), one of the most serious inflammatory and neurodegenerative conditions, is characterized by variable clinical courses — relapsing–remitting (RRMS), primary progressive (PPMS) and secondary progressive (SPMS). Although PPMS affects only 10–15% of the patient population, its course and pathophysiological and immunological background are distinct. In this review we present and discuss main differences between different types of MS, with particular focus on the underlying immunological mechanisms.

Computer use and carpal tunnel syndrome: A meta-analysis

Rahman Shiri, Kobra Falah-Hassani

Studies have reported contradictory results on the role of keyboard or mouse use in carpal tunnel syndrome (CTS). This meta-analysis aimed to assess whether computer use causes CTS.

Neurologic manifestations of the neglected tropical diseases

Aaron L. Berkowitz, Pooja Raibagkar, Bobbi S. Pritt, Farrah J. Mateen

The World Health Organization has identified 17 neglected tropical diseases (NTDs) that disproportionately affect the world's poorest populations. The neurologic aspects of many of these NTDs have received relatively little attention.

Original Articles

Transcranial direct current stimulation in the prophylactic treatment of migraine based on interictal visual cortex excitability abnormalities: A pilot randomized controlled trial

Sérgio Rocha, Lorena Melo, Camilla Boudoux, Águida Foerster, Daniella Araújo, Katia Monte-Silva

The aims of this paper are (i) to compare the excitability of visual cortex in migraine patients with healthy volunteers; and (ii) if an abnormal excitability has been found, to modulate cortical excitability in migraine patients with transcranial direct current stimulation (tDCS) and observe their clinical and neurophysiological effects.

Genetic variation in PBMC-produced IFN-γ and TNF-α associations with relapse in multiple sclerosis

Yuan Zhou, Bruce Taylor, Ingrid van der Mei, Niall Stewart, Jac Charlesworth, Leigh Blizzard, Anne-Louise Ponsonby, Terence Dwyer, Fotini Pittas, Steve Simpson

Alterations in peripheral blood mononuclear cell (PBMC) cytokine production have been found in multiple sclerosis (MS) compared to healthy controls. We have previously found that stimulated PBMC-produced TNF-α and IFN-γ modulated MS relapse risk, such that raised TNF-α was protective, while raised IFN-γ increased relapse risk.

Identification of diabetes-related dementia: Longitudinal perfusion SPECT and amyloid PET studies

Raita Fukasawa, Haruo Hanyu, Soichiro Shimizu, Hidekazu Kanetaka, Hirofumi Sakurai, Kenji Ishii

We attempted to identify a dementia subgroup with characteristics associated with diabetes mellitus (DM)-related metabolic abnormalities, referred to as diabetes-related dementia, using longitudinal single photon emission computed tomography (SPECT) and Pittsburgh compound-B (PiB) positron emission tomography (PET).

Recurrent encephaloclastic cyst induced by intraventricular topotecan

Divya B. Mella, Carlos Kamiya-Matsuoka, Bing Liao, Sudhakar Tummala, John de Groot

To report two rare cases of encephaloclastic cyst induced by intraventricular topotecan. To share our experience in diagnosing and treating this rare disease.

Association of EFEMP1 gene polymorphisms with the risk of glioma: A hospital-based case–control study in a Chinese Han population

Shuo Zhang, Zhao Ye, Xiao Song, Gong Chen, Cong Huai, Qihan Wang, Jianping Song, Daru Lu, Yao Zhao, Hongyan Chen

EGF-containing fibulin-like extracellular matrix protein1 (EFEMP1) gene was relative with the formation and development of tumors and had an anti-angiogenic function. Recently, many studies investigating the function of EFEMP1 gene, including its roles in prostate cancer and glioma, have been reported. EFEMP1 suppressed glioma growth by modulating EGFR and AKT signaling pathway or promoted growth through the regulation of Notch pathway were identified. However, the susceptibility of EFEMP1and glioma has not been well studied to date.

Immunostaining of skin biopsy adds no diagnostic value in MGUS-associated peripheral neuropathy

Ali Al-Zuhairy, Henrik Daa Schrøder, Torben Plesner, Niels Abildgaard, Søren H. Sindrup

For several decades an association between MGUS, IgM-MGUS in particular, and peripheral neuropathy has been suspected. Several histopathology studies have shown binding of IgM to myelin and a secondary widening of myelin lamellae in cutaneous nerves and in the sural nerve of patients with IgM-MGUS, or Waldenström's Macroglobulinaemia (WM), and peripheral neuropathy. In this retrospective study we investigated the value of skin biopsy examination in the diagnosis of MGUS- and WM-associated peripheral neuropathy.

Neuroinflammation and neuronal autophagic death were suppressed via Rosiglitazone treatment: New evidence on neuroprotection in a rat model of global cerebral ischemia

Zi-Qiang Shao, Zun-Jing Liu

Ischemic stroke is one of the leading causes of mortality and disability with documented high incidence and relapse rate. Accumulating evidence indicates that autophagy participated in neuronal cell death and functional loss induced following ischemia/reperfusion (I/R) injury. The peroxisome proliferating activating receptor-γ (PPAR-γ) agonist, Rosiglitazone (RSG), is known for its anti-inflammatory actions. Previous studies have demonstrated that RSG can exert neuroprotection in animal models of both chronic brain injuries and acute brain insults.

A plea for rational mitigation of poor outcomes in the 'off-label use' of medications for the management of pain

Faraz Khursheed, Julia Ioffe, Harry J. Gould

Neuropathic pain is a common and difficult to manage public health problem characterized by frequent treatment failure and high management costs. The variable presentation and response to treatment among patients make it difficult for physicians to apply a single, standardized approach for management. The physician's role in treating neuropathic pain is complex. Clinical decisions must be drawn from personal and shared experience, case reports, and evidence-based, controlled trials performed on selected populations of patients with common, narrowly-defined conditions.

Post-thrombolysis haemostasis changes after rt-PA treatment in acute cerebral infarct. Correlations with cardioembolic aetiology and outcome

Xuhong Sun, Julien Berthiller, Laurent Derex, Paul Trouillas, Laho Diallo, Michel Hanss

Little is known, in man, in the post-thrombolytic molecular dynamics of haemostasis, particularly the effect of rt-PA on antifibrinolytic components such as alpha2 anti-plasmin and Factor XIII.

Primary results from the Cervical Dystonia Patient Registry for Observation of OnabotulinumtoxinA Efficacy (CD PROBE)

Joseph Jankovic, Charles H. Adler, David Charles, Cynthia Comella, Mark Stacy, Marc Schwartz, Aubrey Manack Adams, Mitchell F. Brin

The Cervical Dystonia Patient Registry for Observation of OnabotulinumtoxinA Efficacy (CD PROBE; NCT00836017) is a prospective, observational, multicenter, real-world registry designed to assess the safety, effectiveness, and treatment utilization following multiple treatments of onabotulinumtoxinA.

Neurological outcome and predictive factors of idiopathic optic neuritis in China

Jing-ting Peng, Heng-ri Cong, Rong Yan, Xiu-yun Kong, Han-qiu Jiang, Wen-bin Wei, Xiao-jun Zhang

The neurological outcome and predictive factors of idiopathic optic neuritis (ION) in China are largely unknown.

Accumulation of amyloid in cognitive impairment after mild traumatic brain injury

Shun-Tai Yang, Ing-Tsung Hsiao, Chia-Ju Hsieh, Yung-Hsiao Chiang, Tzu-Chen Yen, Wen-Ta Chiu, Kun-Ju Lin, Chaur-Jong Hu

Recent epidemiology studies have indicated that traumatic brain injury (TBI) can increase the risk of developing neurodegenerative diseases such as Alzheimer's disease (AD). Amyloid-β (Aβ) plaques and neurofibrillary tangles are pathological indicators of AD. The accumulation of Aβ is considered the first step of AD pathophysiology. Compelling studies have supported the hypothesis that TBI accelerates the formation and accumulation of Aβ. These findings could link TBI with AD, although the research that reported these findings had limitations, particularly regarding mild TBI (mTBI) patients. 

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation

Anne Tschentscher, Gabriele Dekomien, Sophia Ross, Kirsten Cremer, Guido M. Kukuk, Jörg T. Epplen, Sabine Hoffjan

Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of diseases presenting with movement disorders and brain iron deposits. In addition to NBIA subtypes caused by mutations in PANK2 and PLA2G6, mutations in the C19orf12 gene were recently described as the third frequent cause of NBIA (called mitochondrial membrane protein-associated neurodegeneration, MPAN). Additionally, the X-linked gene WDR45 was found causative for a special subtype named static encephalopathy in childhood with neurodegeneration in adulthood (also called BPAN); however, analysis of this gene in a broader spectrum of NBIA has not been reported yet.

Puerarin alleviates noise-induced hearing loss via affecting PKCγ and GABAB receptor expression

Juan Qu, Yong-Hui Liao, Zhen-Zhen Kou, Yan-Yan Wei, Jing Huang, Jing Chen, Yuchio Yanagawa, Sheng-Xi Wu, Ming Shi, Yun-Qing Li

Noise-induced hearing loss (NIHL) often results from prolonged exposure to high levels of noise. Our previous study revealed that during the development of NIHL, the expression of protein kinase C γ subunit (PKCγ) and GABAB receptor (GABABR) was changed within the cochlear nuclear complex (CNC), suggesting that these molecules might be the potential targets for the treatment of NIHL. As an extending study, here we focused on puerarin, a major isoflavonoid extracted from Pueraria lobota, which has been used in the treatment of cardiovascular and cerebrovascular diseases, and investigated whether it could protect against NIHL by acting on PKCγ and GABABR. 

An explorative study regarding the effect of l-deprenyl on cognitive and functional recovery in patients after stroke

Michelangelo Bartolo, Chiara Zucchella, Annarita Capone, Giorgio Sandrini, Francesco Pierelli

Selegiline (l-deprenyl) is a selective monoamine oxidase type B inhibitor that has been shown to have neurotrophic and anti-apoptotic properties and to protect neurons in different experimental models of cerebral ischaemia. The aim of this explorative study was to investigate whether selegiline could enhance cognitive and functional recovery in stroke survivors.

Candidate pathway-based genetic association study of platinum and platinum–taxane related toxicity in a cohort of primary lung cancer patients

Cassandra Johnson, Vernon S. Pankratz, Ana I. Velazquez, Jeremiah A. Aakre, Charles L. Loprinzi, Nathan P. Staff, Anthony J. Windebank, Ping Yang

Chemotherapy-induced peripheral neuropathy (CIPN) is a common toxicity secondary to chemotherapy. Genetic factors may be important in predisposing patients to this adverse effect.

Morphometric and high resolution scanning electron microscopy analysis of low-level laser therapy and latex protein (Hevea brasiliensis) administration following a crush injury of the sciatic nerve in rats

Fernando J. Dias, João Paulo M. Issa, Joaquim Coutinho-Netto, Valéria P.S. Fazan, Luiz Gustavo Sousa, Mamie M. Iyomasa, Paula C. Papa, Ii-sei Watanabe

This study evaluated the effect of low-level laser therapy (LLLT; 15 J/cm2) and a latex protein (F1) on a crush injury of the sciatic (ischiadicus) nerve. Seventy-two rats (male, 250 g) were divided into 6 groups: CG, control; EG, exposed nerve; IG, injured nerve without treatment; LG, injured nerve with LLLT; HG, injured nerve with F1; and LHG, injured nerve with LLLT and F1. After 4 or 8 weeks, the animals were euthanized and samples of the sciatic nerve were collected for morphometric and high-resolution scanning electron microscopy (HRSEM) analysis.    

The +190 G/A (rs1799864) polymorphism in the C–C chemokine receptor 2 (CCR2) gene is associated with susceptibility to multiple sclerosis in HLA-DRB1*15:01-negative individuals

Juraj Javor, Zuzana Párnická, Jozef Michalik, Daniela Čopíková-Cudráková, Ivana Shawkatová, Vladimíra Ďurmanová, Karin Gmitterová, Eleonóra Klímová, Mária Bucová, Milan Buc

C–C chemokine receptor 2 (CCR2) is one of the key players involved in the transmigration of mononuclear cells into the central nervous system (CNS) and subsequent development of multiple sclerosis (MS). The aim of the current study was to analyse the association of CCR2 +190 G/A (rs1799864) polymorphism with susceptibility to MS and its influence on the age at onset, severity and neurological disability in MS. CCR2 genotyping was carried out by a polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP) in 301 MS patients and 342 healthy controls.                

Retrospective analysis of long-term outcome of chronic progressive neurological manifestations in Behcet's disease

Shunsei Hirohata, Hirotoshi Kikuchi, Tetsuji Sawada, Hiroko Nagafuchi, Masataka Kuwana, Mitsuhiro Takeno, Yoshiaki Ishigatsubo

Chronic progressive neuro-Behcet's disease (CPNBD) is characterized by progressive deterioration leading to disability and death. Although methotrexate has been found effective for CPNBD, its influences on the long-term outcome remain unclear. We therefore explored the effects of various treatments on the prognosis.

Lower serum levels of selenium, copper, and zinc are related to neuromotor impairments in children with konzo

G.M.-M. Bumoko, N.H. Sadiki, A. Rwatambuga, K.P. Kayembe, D.L. Okitundu, D. Mumba Ngoyi, J.-J.T. Muyembe, J.-P. Banea, M.J. Boivin, D. Tshala-Katumbay

We assessed the relationship between key trace elements and neurocognitive and motor impairments observed in konzo, a motor neuron disease associated with cassava cyanogenic exposure in nutritionally challenged African children. Serum concentrations of iron, copper, zinc, selenium, and neurotoxic lead, mercury, manganese, cadmium, and cobalt were measured in 123 konzo children (mean age 8.53 years) and 87 non-konzo children (mean age 9.07 years) using inductively coupled plasma mass spectrometry (ICPMS).          

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

Agathe Roubertie, Nicolas Leboucq, Marie Christine Picot, Erika Nogue, Hervé Brunel, Emmanuelle Le Bars, Gael Manes, Claire Angebault Prouteau, Catherine Blanchet, Michel Mondain, Hugues Chevassus, Patrizia Amati-Bonneau, Emmanuelle Sarzi, Michel Pagès, Max Villain, Isabelle Meunier, Guy Lenaers, Christian P. Hamel

OPA1 mutations are responsible for more than half of autosomal dominant optic atrophy (ADOA), a blinding disease affecting the retinal ganglion neurons. In most patients the clinical presentation is restricted to the optic nerve degeneration, albeit in 20% of them, additional neuro-sensorial symptoms might be associated to the loss of vision, as frequently encountered in mitochondrial diseases. This study describes clinical and neuroradiological features of OPA1 patients.

Executive dysfunction is a strong stroke predictor

Shahram Oveisgharan, Vladimir Hachinski

Although stroke is known to result in executive dysfunction, little is known about executive dysfunction as a risk factor for stroke.

Nonmotor symptoms in essential tremor: Comparison with Parkinson's disease and normal control

Seon-Min Lee, Minjik Kim, Hye Mi Lee, Kyum-Yil Kwon, Seong-Beom Koh

Recently, the definition of essential tremor (ET) has evolved to have two different meanings. One refers to classic ET, a benign mono-symptomatic disorder, and the other refers to a heterogeneous neurodegenerative disorder. The aim of this study was to categorize nonmotor symptoms according to ET phenotype, and compare them, along with autonomic function, in people with Parkinson's disease (PD) and normal controls.

Putaminal hypointensity on T2*-weighted MR imaging is the most practically useful sign in diagnosing multiple system atrophy: A preliminary study

Atsuhiko Sugiyama, Shoichi Ito, Tomoki Suichi, Toru Sakurai, Hiroki Mukai, Hajime Yokota, Tadahiro Yonezu, Satoshi Kuwabara

To identify useful MRI abnormalities in the putamen for diagnosing multiple system atrophy.

Olfactory identification in amnestic and non-amnestic mild cognitive impairment and its neuropsychological correlates

Martin Vyhnalek, Hana Magerova, Ross Andel, Tomas Nikolai, Alexandra Kadlecova, Jan Laczo, Jakub Hort

Olfactory identification impairment in amnestic mild cognitive impairment (aMCI) patients is well documented and considered to be caused by underlying Alzheimer's disease (AD) pathology, contrasting with less clear evidence in non-amnestic MCI (naMCI). The aim was to (a) compare the degree of olfactory identification dysfunction in aMCI, naMCI, controls and mild AD dementia and (b) assess the relation between olfactory identification and cognitive performance in aMCI compared to naMCI.

Association of the long pentraxin PTX3 gene polymorphism (rs3816527) with migraine in an Iranian population

Alireza Zandifar, Niloufar Iraji, Maryam Taheriun, Mohamadhasan Tajaddini, Shaghayegh Haghjooy Javanmard

Migraine is a common neurovascular disorder with multifactorial and polygenic inheritance. It has been shown that migraine may be a form of sterile neurogenic inflammation. Pentaxins 3 (PTX3) has been detected in brain during inflammatory responses. The aim of our study was to investigate the association of rs3816527 polymorphism of the PTX3 gene and migraine in an Iranian population.

Elevated serum levels of neutrophil elastase in patients with influenza virus-associated encephalopathy

Guilian Sun, Chiharu Ota, Setsuko Kitaoka, Yoko Chiba, Masaru Takayanagi, Taro Kitamura, Katsuya Yamamoto, Hiromi Fujie, Hitoshi Mikami, Mitsugu Uematsu, Naomi Hino-Fukuyo, Mitsutoshi Munakata, Shigeo Kure, Kazuhiro Haginoya

We examined serum levels of various cytokines, chemokines, growth factors, and adhesion molecules in patients with uncomplicated influenza (n = 20) and influenza virus-associated encephalopathy (IE) (n = 18) to understand the underlying mechanism of IE. We found that IL-1β, IL-2, IL-5, IL-6, IL-7, IL-8, IL-10, IL-13, G-CSF, GM-CSF, TNF-α, TIMP-1, MMP-9, sE-selectin, and neutrophil elastase were elevated significantly in sera from patients with uncomplicated influenza and those with IE, compared with normal controls (n = 20).

New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

Natalya Abramycheva, Maria Stepanova, Lyudmila Kalashnikova, Maria Zakharova, Marina Maximova, Marine Tanashyan, Olga Lagoda, Ekaterina Fedotova, Sergey Klyushnikov, Rodion Konovalov, Alla Sakharova, Sergey Illarioshkin

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cerebrovascular small-vessel disease caused by stereotyped mutations in the Notch3 gene altering the number of cysteine residues.

Pain-related autonomic response is modulated by the medial prefrontal cortex: An ECG–fMRI study in men

Gabor Perlaki, Gergely Orsi, Attila Schwarcz, Peter Bodi, Eniko Plozer, Kristof Biczo, Mihaly Aradi, Tamas Doczi, Samuel Komoly, Laszlo Hejjel, Norbert Kovacs, Jozsef Janszky

Our goal was to identify brain structures responsible for pain-related autonomic changes by the correlation of simultaneously acquired functional magnetic resonance imaging (fMRI) and electrocardiogram (ECG) data.

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK

Chun Tak Kwok, Hsiang-Ya Wang, Alex G. Morris, Bradley Smith, Christopher Shaw, Jackie de Belleroche

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease causing loss of motor neurons in the spinal cord, brain stem and cerebral cortex. Mutations in the Valosin containing protein (VCP) gene have recently been identified in Familial ALS (FALS) patients, accounting for ~1% of all FALS cases. In order to study the frequency of VCP mutations in UK FALS patients, we have screened the exons known to harbour mutations together with 3′ and 5′ UTR sequences. No coding changes were identified in this UK cohort and no common polymorphisms were associated with FALS.        

Visual deprivation elicits subclinical postural inflexibilities in early Parkinson's disease

Pattamon Panyakaew, Chanawat Anan, Roongroj Bhidayasiri

Postural instability is often experienced in the late stages of PD and is a marker of disease progression. Little information is available on the role of visual inputs as an adaptive strategy to compensate for postural instability in PD. The purpose of this study was to determine visual dependency for postural control in early PD.

Anxiety and depressive symptoms in caregivers of multiple sclerosis patients: The role of information processing speed impairment

Andrés Labiano-Fontcuberta, Alex J. Mitchell, Sara Moreno-García, Julián Benito-León

Multiple sclerosis (MS) patients have high rates of complications and disability, including cognitive impairment, that often, impact on caregivers' emotional health. Clarification may help identify improved supportive strategies for both caregivers and patients.

Short Communications

Clinically mild encephalitis with a reversible splenial lesion (MERS) after mumps vaccination

Jun-ichi Takanashi, Takashi Shiihara, Takeshi Hasegawa, Masaru Takayanagi, Munetsugu Hara, Akihisa Okumura, Masashi Mizuguchi
  • DOI: http://dx.doi.org/10.1016/j.jns.2014.12.019
  • p226–228
  • Published online: December 18, 2014
  • Abstract
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We retrospectively collected three patients with clinically mild encephalitis with a reversible splenial lesion (MERS) after mumps vaccination, and reviewed five patients, including two patients previously reported. The five patients (all males, aged 1 to 9) presented with fever, vomiting, or headache as the initial symptoms (day 0), suggesting meningitis, at 13 to 21 days after mumps vaccination. Consciousness disturbance, delirious behavior, seizures, or dysarthria was observed on days 1 to 3, which had completely resolved before day 11.

A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome presenting with hypertrophic pachymeningitis

Wataru Shiraishi, Shintaro Hayashi, Yasutaka Iwanaga, Hiroyuki Murai, Akifumi Yamamoto, Jun-ichi Kira
  • DOI: http://dx.doi.org/10.1016/j.jns.2014.12.020
  • p229–231
  • Published online: December 19, 2014
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A 43-year-old woman with a 3-year history of headache, fever, and swelling of the forehead, presented to our hospital. A general examination revealed palmar and plantar pustules. Blood analyses showed an elevated white blood cell count, C-reactive protein level, and erythrocyte sedimentation rate. Brain MRI revealed a partially thickened cranial bone with gadolinium enhancement, and also abnormally enhanced dura mater. Bone scintigraphy showed involvement of the cranial bone and bilateral sternoclavicular joints.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases

Eun-Joo Kim, Jin-Hong Shin, Jeong Hee Lee, Jong Hun Kim, Duk L. Na, Yeon-Lim Suh, Sun Jae Hwang, Jae-Hyeok Lee, Young Min Lee, Myung-Jun Shin, Myung Jun Lee, Seong-Jang Kim, Uicheul Yoon, Do Youn Park, Dae Soo Jung, Jae Woo Ahn, Suk Sung, Gi Yeong Huh

We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical, neuroimaging and neuropathological findings were obtained by direct evaluation and from previous medical records.

Tumefactive multiple sclerosis and hepatitis C virus 2a/2C infection: Dual benefit of long-term interferon beta-1a therapy?

Edward C. Mader, Wael Richeh, Joaquin Maury Ochoa, Lacey L. Sullivan, Amparo N. Gutierrez, Jesus F. Lovera
  • DOI: http://dx.doi.org/10.1016/j.jns.2014.12.034
  • p239–242
  • Published online: January 2, 2015
  • < id="&title=Tumefactive%20multiple%20sclerosis%20and%20hepatitis%20C%20virus%202a%2F2C%20infection%3A%20Dual%20benefit%20of%20long-term%20interferon%20beta-1a%20therapy%3F&jname=Journal%20of%20the%20Neurological%20Sciences&issn=0022-510X&coverdate=20150215&issuenum=1&volume=349&artstage=s300">Abstract
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Hepatitis C virus (HCV) infection has been implicated in triggering acute disseminated encephalomyelitis but not tumefactive multiple sclerosis. We report the case of a 17-year-old female who presented with a 5-day history of left hemiparesis and hemisensory loss followed by a right third nerve palsy. Tumefactive multiple sclerosis was diagnosed based on the absence of encephalopathic signs, the presence of tumefactive brain lesions, the exclusion of neoplastic and infectious causes of the lesions by biopsy, and the occurrence of relapse after a period of remission. 

Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12

Tao Hu, Bi Zhao, Qian-qian Wei, Huifang Shang

In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory subunit B, beta isoform (PPP2R2B) gene. To our knowledge, this is the first report on patients with SCA12 presenting with prominent cerebral white matter change besides cerebral and/or cerebellar atrophy.

Multifocal-motor-neuropathy-like disease associated with Infliximab treatment in a patient with Crohn's disease

S. Fernández-Menéndez, N. González Nafría, L. Redondo-Robles, M. Sierra-Ausín, R. García-Santiago, A. Saponaro-González

Multifocal motor neuropathy is an immune-mediated disorder characterized by motor-conduction block in nerve-conduction studies. It is recognized that anti-TNF-α therapies are associated with immune-mediated conditions as adverse events. We report a case of multifocal-motor-neuropathy-like disease associated with the use of Infliximab in a patient with Crohn's disease. The diagnosis was based on neurophysiological evaluation and complete screening tests. Clinical and laboratory findings were not compatible with other potential causes.

Role of interferon-beta in Mycobacterium avium subspecies paratuberculosis antibody response in Sardinian MS patients

Jessica Frau, Davide Cossu, Giancarlo Coghe, Lorena Lorefice, Giuseppe Fenu, Gianluca Porcu, Claudia Sardu, Maria Rita Murru, Stefania Tranquilli, Maria Giovanna Marrosu, Leonardo Antonio Sechi, Eleonora Cocco

Mycobacterium avium subspecies paratuberculosis (MAP) is associated with MS in Sardinia. Because anti-MAP antibodies (Abs) were more frequent in interferon-beta treated patients, we hypothesize that interferon-beta could interact with the immune system.

Ipsilesional limb ataxia and truncal ipsipulsion in isolated infarction of the superior cerebellar peduncle

Sun-Uk Lee, Hee-Joon Bae, Ji-Soo Kim

The clinical features of a lesion confined to the superior cerebellar peduncle (SCP) have not been defined well in human. A 92-year-old woman suddenly developed mild dysarthria and severe imbalance from an isolated unilateral SCP infarction, and examination showed ipsiversive ocular torsion, severe ipsilesional limb ataxia, and truncal ipsipulsion. These findings are well consistent with those observed in monkeys when the SCP was severed. In addition to the dentate-rubro-thalamic projections, the SCP appears to contain the fibers involved in the control of eye motion in the roll plane.

Letters to the Editor

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed

Andrea Mignarri, Silvia Cenciarelli, Paola Da Pozzo, Elena Cardaioli, Alessandro Malandrini, Antonio Federico, Maria Teresa Dotti

Mutations in the POLG1 gene, encoding the catalytic subunit of the mitochondrial DNA polymerase γ, are responsible for various phenotypes associated with multiple mitochondrial DNA (mtDNA) deletions. [1] Mitochondrial recessive ataxia syndrome (MIRAS) is due to the mutations c.1399G>A (A467T) and c.2243G>C (W748S) of POLG1, and is clinically characterized by early onset ataxia, variably associated with peripheral neuropathy, epilepsy, headache, cognitive impairment, psychiatric disturbances, movement disorders, and ophthalmoplegia.

Wallerian degeneration of the bilateral middle cerebellar peduncles

Seyed Ali Nabavizadeh, Ashkan Mowla, Alexander C. Mamourian

A 61 year old male presented with right sided weakness and was diagnosed with acute left paramedian pontine infarction (Fig. 1 A, B) secondary to occlusion of the perforating pontine branches of the basilar artery, and was started on antiplatelet therapy and high dose of statin. Follow-up brain Magnetic Resonance Imaging (MRI) after 6 weeks demonstrated bilateral symmetrical hyperintensity in middle cerebellar peduncles on T2-weighted image (Fig. 1 C). Development of symmetrical hyperintensity in the middle cerebellar peduncles following basis pontis infarction or hemorrhage is consistent with Wallerian degeneration of pontocerebellar fibers, and should not be confused with additional infarctions.

PPIs as possible risk factor for copper deficiency myelopathy

Domenico Plantone, Rosaria Renna, Guido Primiano, Arif Shukralla, Tatiana Koudriavtseva

Verma and colleagues recently described twenty-three patients with posterolateral myelopathy who were investigated for levels of vitamin B12, copper and zinc and followed up for six months [1]. They found that in six patients ceruloplasmin and 24 h urinary copper levels were low suggesting dietary copper deficiency. They argued that a normal western diet contains sufficient copper to meet daily requirements and hypothesized that the situation may be different in developing countries. Dietary copper intake may be low in some vegetarian diets involving infrequent consumption of foods rich in micronutrients.

Clinical utility of triptans in the management of headache attributed to dural arteriovenous fistula involving the cavernous sinus

Mayuko Osaka, Mamoru Shibata, Koichi Oki, Satoshi Yamada, Kenji Kufukihara, Takenori Akiyama, Kazunari Yoshida, Norihiro Suzuki

Dural arteriovenous fistula (DAVF) involving the cavernous sinus (CS) is clinically characterized by severe headache, ocular motor neuropathy, chemosis, and conjunctival congestion [1]. The headache is considered to result mainly from intracranial hypertension secondary to impaired venous flow. The vasoconstrictive effects of triptans are exerted via the serotonin (5-HT)1B receptor [2]. A recent study using magnetic resonance angiography (MRA) demonstrated that the vasoconstrictive effects of triptans are differential, constricting the external carotid artery (ECA) system and cavernous portion of the internal carotid artery (ICA), but not other portions of the ICA [3].

Evaluation of plaque stability in extracranial carotid atherosclerotic disease: Role of vascular inflammation

Dale Ding

The recently published article in the Journal of the Neurological Sciences by Kim et al., titled 'Carotid inflammation on 18F-fluorodeoxyglucose positron emission tomography associates with recurrent ischemic lesions', was very interesting [1]. In this retrospective, case–control study, the authors analyzed prospectively collected data from 21 patients with symptomatic extracranial carotid atherosclerotic disease (ECAD) for an association between 18F-fluorodeoxyglucose (FDG) uptake on positron emission tomography (PET) and the presence of clinically silent, early recurrent ischemic lesions (ERIL), as defined by diffusion-weighted magnetic resonance imaging (DWI).