JNS-cover.jpgJournal of Neurological Sciences

Vol 366 | 15 July 2016 | Pages 1-254


Editor's update and selected articles from the Journal of the Neurological Sciences

John D. England

On 1 February 2016, the World Health Organization (WHO) declared that the Zika outbreak in the Americas is a Public Health Emergency of International Concern. This recommendation was based upon the growing concern that Zika virus infection is linked to the increasing number of cases of neonatal microcephaly and other neurological conditions such as Guillain-Barré Syndrome (GBS). As of 6 April 2016, the Zika virus has been reported in 62 countries or territories and is circulating in 39 of them. Of great concern is the fact that the geographical distribution of the virus has steadily and rapidly expanded.

The Pan-American Federation of Neurological Societies (PAFNS): A New Regional Organization

Marco T. Medina, Gustavo C. Román

The Pan-American Federation of Neurological Societies (PAFNS) was created on 15 November 2011 during the 20th World Congress of Neurology in Marrakech by virtue of the "Declaration of Morocco" signed by the WFN Latin American delegates and ratified on 5 March 2012 by delegates attending the 13th Pan-American Congress of Neurology in La Paz, Bolivia. On 20 March 2013 delegates attending the 65th Annual Meeting of the American Academy of Neurology in San Diego, California, USA, gave formal approval to the PAFNS Constitution.


Review Articles

Non-genetic therapeutic approaches to Canavan disease

Rebecca B. Roscoe, Christina Elliott, Apostolos Zarros, George S. Baillie

Canavan disease (CD) is a rare leukodystrophy characterized by diffuse spongiform white matter degeneration, dysmyelination and intramyelinic oedema with consequent impairment of psychomotor development and early death. The molecular cause of CD has been identified as being mutations of the gene encoding the enzyme aspartoacylase (ASPA) leading to its functional deficiency. The physiological role of ASPA is to hydrolyse N-acetyl-l-aspartic acid (NAA), producing l-aspartic acid and acetate; as a result, its deficiency leads to abnormally high central nervous system NAA levels.

Upstream regulators and downstream effectors of NF-κB in Alzheimer's disease

Zhe-Min Shi, Ya-Wei Han, Xiao-Hui Han, Kun Zhang, Ya-Nan Chang, Zhi-Mei Hu, Hai-Xia Qi, Chen Ting, Zhang Zhen, Wei Hong

Since Alzheimer's disease (AD) is becoming the prevalent dementia in the whole world, more underlying mechanisms are emerging. Long time has the transcription factor NF-κB been identified to participate in AD pathogenesis, various studies have focused on the causes and effects of AD that are linked to NF-κB. In this review we discuss diverse environmental stimuli including oxidative stress, neuroinflammation and metabolism, involved signaling pathways such as PI3K/AKT, MAPK and AGE/RAGE/GSK-3 and newly found ncRNAs that mediate neuron toxicity or neuron protection through NF-κB activation and the following response associated with the same factors in AD.

Neurogenomics in Africa: Perspectives, progress, possibilities and priorities

Rufus O. Akinyemi, Mayowa O. Owolabi, Tolulope Oyeniyi, Bruce Ovbiagele, Donna K. Arnett, Hemant K. Tiwari, Richard Walker, Adesola Ogunniyi, Raj N. Kalaria, SIREN group of H3Africa Consortium

The understanding of the genetic basis of neurological disorders has grown rapidly in the last two decades. Despite the genomic heterogeneity within African populations, large-scale candidate gene or linkage and exome studies are lacking. However, current knowledge on neurogenetics in African populations is limited and geographically very uneven. Isolated reports indicate the existence of autosomal dominant or recessive conditions incorporating cerebrovascular, movement, neuromuscular, seizure and motor neuron disorders in Africans.


Basic Research Papers

Anti-thyroid antibodies and thyroid function in neuromyelitis optica spectrum disorders

Xuan Wang, Huan Yi, Jia Liu, Min Li, Zhi-Feng Mao, Li Xu, Fu-Hua Peng

Neuromyelitis optica spectrum disorders (NMOSD) are complicated neuroautoimmune disorders which can coexist with other organ-specific autoimmune disorders. The most frequently specific organ is the thyroid. The aim of this study is to evaluate the thyroid function of NMOSD patients and detect the difference between anti-thyroid antibodies (ATAbs) seropositive and seronegative NMOSD patients.

Remote limb preconditioning protects against ischemia-induced neuronal death through ameliorating neuronal oxidative DNA damage and parthanatos

Wei Jin, Wei Xu, Jing Chen, Xiaoxiao Zhang, Lei Shi, Chuancheng Ren

Remote limb preconditioning (RPC) ameliorates ischemia-induced cerebral infarction and promotes neurological function recovery; however, the mechanism of RPC hasn't been fully understood, which limits its clinical application. The present study aimed at exploring the underlying mechanism of RPC through testing its effects on neuronal oxidative DNA damage and parthanatos in a rat focal cerebral ischemia model. Infarct volume was investigated by 2, 3, 5-triphenyltetrazolium chloride (TTC) staining, and neuronal survival was evaluated by Nissl staining.

Down-regulation of adenylate kinase 5 in temporal lobe epilepsy patients and rat model

Yujie Lai, Xiaotong Hu, Guojun Chen, Xuefeng Wang, Binglin Zhu

Adenylate kinase 5 (AK5) is one member of the AK family and plays a critical role in maintaining cellular homeostasis. Different from the other AKs, AK5 is almost exclusively expressed in the brain. However, its exact biological functions remain unclear. The aim of the present study is to explore the expression pattern of AK5 in patients with refractory epilepsy and in a chronic pilocarpine-induced epileptic rat model. Using Western blot, immunofluorescence and immunoprecipitation analysis, we found that AK5 protein was mainly expressed in neurons, demonstrated by colocalization with the dendritic marker, MAP2, which were similar to the corresponding controls.

Prediction of individual clinical scores in patients with Parkinson's disease using resting-state functional magnetic resonance imaging

YanBing Hou, ChunYan Luo, Jing Yang, RuWei Ou, Wei Song, QianQian Wei, Bei Cao, Bi Zhao, Ying Wu, Hui-Fang Shang, QiYong Gong

Neuroimaging holds the promise that it may one day aid the clinical assessment. However, the vast majority of studies using resting-state functional magnetic resonance imaging (fMRI) have reported average differences between Parkinson's disease (PD) patients and healthy controls, which do not permit inferences at the level of individuals. This study was to develop a model for the prediction of PD illness severity ratings from individual fMRI brain scan. The resting-state fMRI scans were obtained from 84 patients with PD and the Unified Parkinson's Disease Rating Scale-III (UPDRS-III) scores were obtained before scanning. 

Re-emergent tremor in Parkinson's disease: A clinical and electromyographic study

Pooja Mailankody, K. Thennarasu, B.C. Nagaraju, Ravi Yadav, Pramod Kumar Pal

Re-emergent tremor (ReT) in Parkinson's disease (PD) is the tremor that re-emerges after a variable period of latency while maintaining posture. The phenomenology and electrophysiological aspects of ReT have not been well characterized. The aims of this study were to characterize ReT clinically and electrophysiologically.

Multi-parametric analysis assists in STN localization in Parkinson's patients

A.W. Przybyszewski, P. Ravin, J.G. Pilitsis, A. Szymanski, A. Barborica, P. Novak

Initial subthalamic nucleus (STN) localization is based on MRI and an anatomical atlas and then refined intraoperatively using electrophysiological mapping with microelectrode recordings (IOA – intraoperative multi-unit activity) during deep brain stimulation (DBS) in Parkinson's disease (PD). IOA is time consuming and subjective. The purpose of this study was to assess the value of high frequency multi-unit background activity (MUA, frequency > 500 Hz), and local field potentials (LFP, frequency 5–500 Hz) in detection of the STN borders.

Essential tremor-Parkinson's disease: A double whammy

Elan D. Louis, Adina Wise, Roy N. Alcalay, Ashwini K. Rao, Pam Factor-Litvak

Surprisingly little has been written about the combined clinical entity, essential tremor-Parkinson's disease (ET-PD), which is the result of a double disease hit. We carefully quantified tremor burden using a wide range of measures (tremor severity, tremor-related disability, tremor-related quality of life) and furthermore, studied additional motor and non-motor features in ET-PD.

Clinical findings and management of patients with meningitis with an emphasis on Haemophilus influenzae meningitis in rural Tanzania

Corinna Storz, Cornelia Schutz, Anthony Tluway, William Matuja, Erich Schmutzhard, Andrea S. Winkler

The spectrum of meningitis pathogens differs depending on the age of patients and the geographic region, amongst other. Although meningitis vaccination programs have led to the reduction of incidence rates, an imbalance between low- and high-income countries still exists.

Hyperhidrosis associated with subthalamic deep brain stimulation in Parkinson's disease: Insights into central autonomic functional anatomy

Adolfo Ramirez-Zamora, Heather Smith, Youngwon Youn, Jennifer Durphy, Damian S. Shin, Julie G. Pilitsis

There is limited evidence regarding the precise location and connections of thermoregulatory centers in humans. We present two patients managed with subthalamic nucleus (STN) Deep Brain Stimulation (DBS) for motor fluctuations in PD that developed reproducible hyperhidrosis with high frequency DBS.

Local field potential oscillations of the globus pallidus in cervical and tardive dystonia

Carlos Trenado, Christian J. Hartmann, Saskia Elben, K. Amande M. Pauls, Lena Friggemann, Stefan Jun Groiss, Lars Timmermann, Jan Vesper, Alfons Schnitzler, Lars Wojtecki

Reports about neural oscillatory activity in the globus pallidus internus (GPi) have targeted general (GD) and cervical dystonia (CD), however to our knowledge they are nonexistent for tardive dystonia (TD).

Choice of dopaminergic therapy among early, mild Parkinson disease subjects in North America

John L. Goudreau, Adriana Pérez, Michael J. Aminoff, James T. Boyd, Keith D. Burau, Chadwick W. Christine, Maureen Leehey, John C. Morgan, On Behalf of the NET-PD Investigators.

The choice of dopaminergic therapy in early Parkinson disease (PD) is an important clinical decision, yet factors influencing this decision have not been extensively studied. We sought to investigate the factors that may be associated with the choice of dopaminergic therapy at the NINDS Exploratory Trials in PD (NET-PD) Long-Term Study-1 (LS1). NET-PD LS1 was a clinical trial of creatine versus placebo in participants with early, mild PD on stable doses of dopaminergic therapy. Baseline data from 1616 out of the 1741 participants were evaluated using univariable and multivariable logistic or generalized logit regression analyses for available factors associated with the choice of dopaminergic therapy. 

Cognitive study on Chinese patients with idiopathic REM sleep behavior disorder

Xudong Li, Zhi Zhou, Shuhong Jia, Chunlei Hou, Wenjing Zheng, Pei Rong, Jinsong Jiao

We investigated cognitive abnormalities using standard tests in Chinese patients with idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) compared with those in normal controls.

Nested polymerase chain reaction in cerebrospinal fluid for diagnosing spinal cord schistosomiasis: A promising method

Igor Silvestre Bruscky, Fábio Lopes de Melo, Zulma Maria de Medeiros, Flávia Falcão Albuquerque, Leandro Batista Wanderley, Carolina da Cunha-Correia

Spinal cord schistosomiasis is a neglected, disabling neurological disease commonly identified in patients from northeast Brazil. The methods currently available for its diagnosis need improvement. PCR in feces and urine is a sensitive diagnostic tool for diagnosis of schistosomiasis, but its value in the cerebrospinal fluid (CSF) is still unknown.

Peripheral arterial endothelial dysfunction of neurodegenerative diseases

Yusuke Fukui, Nozomi Hishikawa, Jingwei Shang, Kota Sato, Yumiko Nakano, Ryuta Morihara, Yasuyuki Ohta, Toru Yamashita, Koji Abe

This study evaluates endothelial functions of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and spinocerebellar ataxia (SCA). The reactive hyperemia index (RHI) of peripheral arterial tonometry and serological data were compared between age- and gender-matched normal controls (n = 302) and five disease groups (ALS; n = 75, PD; n = 180, PSP; n = 30, MSA; n = 35, SCA; n = 53). Correlation analyses were performed in ALS with functional rating scale-revised (FRS-R), and in PD with the Hehn-Yahr scale (H-Y) and a heart to mediastinum ratio using 123I-MIBG scintigraphy (MIBG).  

Enhanced expression of the calcium-sensing receptor in reactive astrocytes following ischemic injury in vivo and in vitro

Ha-Jin Pak, Tae-Ryong Riew, Yoo-Jin Shin, Jeong-Heon Choi, Xuyan Jin, Mun-Yong Lee

We recently demonstrated that the G protein-coupled calcium-sensing receptor (CaSR) is associated with the pathogenesis of ischemic stroke and may be involved in vascular remodeling and astrogliosis. To further substantiate the involvement of CaSR in the astroglial reaction common to ischemic insults, we investigated the temporal and cell type-specific expression patterns of CaSR in the hippocampus after transient forebrain ischemia. CaSR was constitutively expressed in neurons of the pyramidal and granule cell layers, whereas increased CaSR immunoreactivity was observed in reactive astrocytes, but not in activated microglia or macrophages, in the CA1 region of the post-ischemic hippocampus.

Can we differentiate between herpes simplex encephalitis and Japanese encephalitis?

Jayantee Kalita, Usha Kant Misra, Vinita Elizabeth Mani, Sanjeev Kumar Bhoi

Herpes simplex encephalitis (HSE) occurs without regional and seasonal predilections. HSE is important to differentiate from arboviral encephalitis in endemic areas because of therapeutic potential of HSE. This study evaluates clinical features, MRI and laboratory findings which may help in differentiating HSE from Japanese encephalitis (JE).

Low quality of life and psychological wellbeing contrast with moderate perceived burden in carers of people with severe multiple sclerosis

Andrea Giordano, Vincenzo Cimino, Angela Campanella, Giovanni Morone, Augusto Fusco, Mariangela Farinotti, Lucia Palmisano, Paolo Confalonieri, Alessandra Lugaresi, Maria Grazia Grasso, Michela Ponzio, Simone Veronese, Francesco Patti, Alessandra Solari, PeNSAMI project

Few studies have investigated wellbeing and burden in carers of people with severe multiple sclerosis (PwSMS).

Association of MDR1, CYP2D6, and CYP2C19 gene polymorphisms with prophylactic migraine treatment response

Gulfer Atasayar, Isil Ezgi Eryilmaz, Necdet Karli, Unal Egeli, Mehmet Zarifoglu, Gulsah Cecener, Ozlem Taskapilioglu, Berrin Tunca, Oznur Yildirim, Secil Ak, Gulcin Tezcan, Fatma Ezgi Can

Prophylactic therapy response varies in migraine patients. The present study investigated the relationship between the resistance to the drugs commonly used in prophylactic therapy and the possible polymorphic variants of proteins involved in the metabolism of these drugs. Migraine patients with the MDR1 3435TT genotype exhibited a better treatment response to topiramate than migraine patients with the CC and CT genotypes (p = 0.020). The MDR1 C3435T polymorphism was also found to be a higher risk factor for topiramate treatment failure in a comparison of the number of days with migraine (β2 = 1.152, p = 0.015).

Effects of tibial nerve neurotomy on posture and gait in stroke patients: A focus on patient-perceived benefits in daily life

Charlotte Le Bocq, Marc Rousseaux, Nadia Buisset, Walter Daveluy, Serge Blond, Etienne Allart

To evaluate the objective and subjective functional effectiveness of tibial nerve neurotomy (TNN) in post-stroke spastic equinovarus foot (SEF).

The incidence of post-mortem neurodegenerative and cerebrovascular pathology in mixed dementia

Jacques De Reuck, Vincent Deramecourt, Charlotte Cordonnier, Florence Pasquier, Didier Leys, Claude-Alain Maurage, Regis Bordet

The clinical picture of dementia in most aged patients is due to a combination of different neurodegenerative processes and frequently associated to cerebrovascular lesions. They are called mixed dementia (MixD) cases, to be differentiated from those with pure vascular dementia (VaD) and those with Alzheimer's dementia (AD). The present study compares the frequency of different associated lesions in these disease groups.

Mirror movements in Parkinson's disease: An under-appreciated clinical sign

Payel Chatterjee, Rebecca Banerjee, Supriyo Choudhury, Banashree Mondal, Marium Umme Kulsum, Koustav Chatterjee, Hrishikesh Kumar

Mirror movements (MM) have been previously reported in patients with Parkinson's disease (PD). Despite being potentially relevant in PD, MM as a neurological sign have remained less recognized. In this study we critically evaluated the characteristic features of MM and their attributes among a cohort of PD patients from a tertiary care center of eastern part of India.

Opening of ATP-sensitive K+ (KATP) channels enhance hydroxyl radical generation induced by MPP+ in rat striatum

Toshio Obata, Michiko Nakashima

The present study examined whether opening of adenosine triphosphate (ATP) sensitive K+ (KATP) channels can enhance 1-methyl-4-phenylpyridinium (MPP+)-induced hydroxyl radical ( OH) generation in rat striatum. Rats were anesthetized, and sodium salicylate in Ringer's solution (0.5 nmol/ml per min) was infused through a microdialysis probe to detect the generation of OH as reflected by the non-enzymatic formation of 2.3-dihydroxybenzoic acid (DHBA) in the striatum. MPP+ (5 mM) enhanced generation of OH with concomitant increased efflux of dopamine (DA). 

Increased plasma donepezil concentration improves cognitive function in patients with dementia with Lewy bodies: An exploratory pharmacokinetic/pharmacodynamic analysis in a phase 3 randomized controlled trial

Etsuro Mori, Manabu Ikeda, Kenya Nakai, Hideaki Miyagishi, Masaki Nakagawa, Kenji Kosaka

To investigate whether increasing plasma donepezil concentration further improves cognitive function and neuropsychiatric symptoms without compromising safety in patients with dementia with Lewy bodies (DLB).

Iatrogenic intracranial hypotension and cerebral venous thrombosis

Asaf Honig, Ruth Eliahou, Y.Y. Pikkel, Ronen R. Leker

To assess the manifestations of cerebral venous thrombosis (CVT) associated with intracranial hypotension (IH) following lumbar puncture (LP) or spinal anesthesia (SA).

TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia

Glenda M. Halliday, Matthew C. Kiernan, Jillian J. Kril, Remika Mito, Masami Masuda-Suzukake, Masato Hasegawa, Heather McCann, Lauren Bartley, Carol Dobson-Stone, John B.J. Kwok, Michael Hornberger, John R. Hodges, Rachel H. Tan

The hypoglossal nucleus was recently identified as a key brain region in which the presence of TDP-43 pathology could accurately discriminate TDP-43 proteinopathy cases with clinical amyotrophic lateral sclerosis (ALS). The objective of the present study was to assess the hypoglossal nucleus in behavioral variant frontotemporal dementia (bvFTD), and determine whether TDP-43 in this region is associated with clinical ALS. Twenty-nine cases with neuropathological FTLD-TDP and clinical bvFTD that had not been previously assessed for hypoglossal TDP-43 pathology were included in this study. 

Investigation of serum levels and tissue expression of two genes IGFBP-2 and IGFBP-3 act as potential biomarker for predicting the progression and survival in patients with glioblastoma multiforme

Hesam Abdolhoseinpour, Farzad Mehrabi, Kourosh Shahraki, Reza Jalili Khoshnood, Babak Masoumi, Emad Yahaghi, Peyman Karimi Goudarzi

Identification of genetic copy number changes in glial tumors is of importance in the context of improved/refined diagnostic, prognostic procedures and therapeutic decision-making. Blood-derived biomarkers, therefore, would be useful as minimally invasive markers that could support diagnosis and enable monitoring of tumour growth and response to treatment.

Spike voltage topography in temporal lobe epilepsy

Ali A. Asadi-Pooya, Marjan Asadollahi, Shoichi Shimamoto, Matthew Lorenzo, Michael R. Sperling

We investigated the voltage topography of interictal spikes in patients with temporal lobe epilepsy (TLE) to see whether topography was related to etiology for TLE. Adults with TLE, who had epilepsy surgery for drug-resistant seizures from 2011 until 2014 at Jefferson Comprehensive Epilepsy Center were selected. Two groups of patients were studied: patients with mesial temporal sclerosis (MTS) on MRI and those with other MRI findings. The voltage topography maps of the interictal spikes at the peak were created using BESA software. 

Spreading depolarization-modulating drugs and delayed cerebral ischemia after subarachnoid hemorrhage: A hypothesis-generating retrospective clinical study

Arend M. Hamming, Inge A. Mulder, Celine S. Gathier, Walter M. van den Bergh, Jan Willem Dankbaar, Reinier G. Hoff, W. Peter Vandertop, Dagmar Verbaan, Michel D. Ferrari, Gabriel J.E. Rinkel, Ale Algra, Marieke J.H. Wermer

Delayed cerebral ischemia (DCI) occurs in approximately one-third of patients with aneurysmal subarachnoid hemorrhage (aSAH). A proposed underlying mechanism for DCI is spreading depolarization (SD). Our aim was to, retrospectively, investigate the influence of the use of SD-modulating drugs on the occurrence of DCI.

Subcortical grey matter volumes predict subsequent walking function in early multiple sclerosis

Bardia Nourbakhsh, Christina Azevedo, Amir-Hadi Maghzi, Rebecca Spain, Daniel Pelletier, Emmanuelle Waubant

Atrophy of subcortical grey matter structures has been reported to be associated with clinical measures of disability in multiple sclerosis (MS) patients. It is not clear if the degree of tissue loss in patients with very early MS is associated with changes in disability measures.

Increased expression of microRNA-21 in peripheral blood mediates the down-regulation of IFN-γ and increases the prevalence of stroke-associated infection

Shao-Peng Lin, Shan Ye, Xiao-Hui Chen, Hui-Lin Jiang, Hai-Feng Mao, Mei-Ting Chen, Qiu-Jie Ma, Youming Long, Yongxiang Fan, Pei-Yi Lin

Increasing levels of microRNA (miRNA)-21 can lead to IFN-γ deficiency, thereby suppressing immune function. Whether changes in the peripheral blood expression of miRNA-21 in patients with acute stroke are related to stroke-associated infection (SAI) remains unsettled.

Self-reported physical activity in essential tremor: Relationship with tremor, balance, and cognitive function

Elan D. Louis, Kathleen Collins, Brittany Rohl, Sarah Morgan, Daphne Robakis, Edward D. Huey, Stephanie Cosentino

Physical inactivity may be the result of medical comorbidities. Inactivity itself may also lead to important health consequences, especially in older patients. Essential tremor (ET) patients may have a variety of physical and cognitive problems that could detrimentally impact on level of physical activity. Yet, to our knowledge, there have been no studies of physical activity in these patients.


Clinical Short Communications

Activated microglia in acute encephalopathy with biphasic seizures and late reduced diffusion

Yuji Fujita, Jun-ichi Takanashi, Haruka Takei, Setsuo Ota, Katsunori Fujii, Hiroshi Sakuma, Masaharu Hayashi

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of infectious pediatric encephalopathy in Japan. The exact pathogenesis of and the best therapeutic strategy for AESD are uncertain. We firstly performed a brain biopsy in a 2-year-old boy with AESD associated with RS viral infection, which revealed activated ameoboid microglia accumulation around degenerated neuron, and astrogliosis in the affected cortex. Glutamate released from activated microglia may play an important role in the pathogenesis of AESD, which is compatible with the previous report of magnetic resonance spectroscopy showing elevated glutamate.

Pathological Gambling in Parkinson's disease patients: Dopaminergic medication or personality traits fault?

L. Brusa, V. Pavino, M.C. Massimetti, R. Ceravolo, S. Stefani, P. Stanzione

Impulse control disorders (ICDs) are clinically relevant in Parkinson disease (PD) patients, with an established association with PD medication. Aim of our study was to study whether the increased frequency of pathological gambling (PG), reported in subgroups of PD patients, is related to specific personality tracts additional to dopaminergic medications. Thirty-seven PD patients with a personal history of PG where enrolled. Twenty one PD patients, matched for disease and dopaminergic therapy, never experiencing PG, were enrolled as controls.

SUNCT headaches after ipsilateral ophthalmic-distribution zoster

Maria A. Nagel, Ted M. Burns, Don Gilden

Nine days after left ophthalmic-distribution zoster, a 47-year-old man developed SUNCT headaches (short-lasting unilateral neuralgiform headache with conjunctival injection and tearing). In contrast to two prior cases of SUNCT that developed after varicella zoster virus (VZV) meningoencephalitis without rash, this case describes an association of SUNCT with overt zoster, thus adding to the spectrum of headache and facial pain syndromes caused by VZV reactivation.


Letters to the Editor

Consideration about "sonographic evaluation of peripheral nerves in subtypes of Guillain-Barré syndrome"

Daniele Coraci, Valter Santilli, Luca Padua

We have highly appreciated the paper by Mori and colleagues entitled "Sonographic evaluation of peripheral nerves in subtypes of Guillain-Barré syndrome", investigating ultrasound (US) features of acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy/acute motor and sensory axonal neuropathy (AMAN/AMSAN) [1]. The authors examined 14 patients (5 with AIDP and 9 with AMAN/AMSAN) performing an extensive clinical and neurophysiological evaluation and anti-ganglioside antibody analysis.

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

Yukiko Iida, Katsunori Fujii

Affection of the frontal lobe in Leigh syndrome due to the m.8993 T > G mutation

Josef Finsterer, Sinda Zarrouk-Mahjoub

Dear Editor, with interest we read the article by Iida et al. about a 1 year old Japanese girl with Leigh syndrome due to the mutation m.8993 T > G in the ATP6 gene who presented with symmetric, T2-hyperintense lesions in the fronto-temporal lobes, the caudate heads and the rostral parts of the putamen [1]. We have the following comments and concerns.

CLIPPERS features before, during and after lymphoma

Guillaume Taieb, Pierre Labauge

We read with great interest the case report reported by Nakamura et al. entitled "Clinical and radiological CLIPPERS features after complete remission of peripheral T-cell lymphoma, not otherwise specified." [1].

Reply to CLIPPERS features before, during and after lymphoma

Yuji Ueno, Ryota Nakamura, Nobutaka Hattori

We greatly appreciate the interest of Taieb and a co-worker for our reported case. They raised important comments and questions. We reported the case of a 55-year-old Japanese woman who developed chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) features within 1 year of remission of peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) after chemotherapy. Characteristic clinical and radiological CLIPPERS features were shown, and laboratory investigation indicated no evidence of lymphoma recurrence.

Transient paralysis of diaphragm in Waldenstroms disease; a focal variant of Guillain-Barré syndrome?

Anna Grisold, Ingrid Brandl, Elisabeth Lindeck-Pozza, Rainer Pöhnl, Thomas Pratschner, Sabine Schmaldienst, Romana Höftberger, Wolfgang Grisold

Waldenstrom's disease (WD) can be associated with neurological complications such as hyperviscosity syndrome, encephalopathy, myelopathy, several types of neuropathy (1), malignant infiltration of nerve roots, and rarely myopathy (2). Dysimmune neuropathies such as Guillain-Barré syndrome (GBS) and chronic-inflammatory demyelinating polyneuropathy (CIDP) (3) occur rarely. In addition to neuromuscular causes pleuro-pulmonary complications can result from amyloidosis of the lung and/or diaphragm.

Excellent outcome of pallidal deep brain stimulation in DYT6 dystonia: A case report

Vladimira Vuletic, Darko Chudy, Fadi Almahariq, Valerija Dobricic, Vladimir Kostic, Nenad Bogdanovic

DYT6 dystonia is, besides DYT1, another autosomal-dominant monogenic isolated dystonia. It is caused by mutations in the thanatos-associated domain-containing apoptosis-associated protein gene (THAP1) [1]. The DYT6 phenotype includes a generalized or segmental dystonia with cranio-cervical and laryngeal affection (speech disturbance can be a prominent feature), usually manifesting in childhood or early adulthood [2]. Deep brain stimulation of the internal pallidum (GPi-DBS) has been demonstrated as a safe and effective approach in the treatment-refractory generalized and segmental dystonia [3].

Spinal cord and cranial Bing-Neel Syndrome complicated by cerebral ischemia: A case report

Alejandro Vargas, Karan S. Dixit, John G. Quigley, Fernando D. Testai

Waldenström's macroglobulinemia (WM) is a B-cell malignancy characterized by lymphoplasmacytic lymphoma (LPL) within the bone marrow and an IgM monoclonal gammopathy in the blood. Symptoms may include weakness or fatigue, anorexia and weight loss, bleeding from the gums and nose, headache, blurred vision, peripheral neuropathy, and even stroke from hyperviscosity. The direct infiltration of the central nervous system (CNS), either as a diffuse leptomeningeal form or tumoral form is an exceedingly rare complication of WM, recognized as Bing-Neel Syndrome (BNS) [1].

Use of 2 hydroxypropyl-beta-cyclodextrin therapy in two adult Niemann Pick Type C patients

Ana Alejandra García-Robles, María José Company-Albir, Juan Eduardo Megías-Vericat, María José Fernández-Megía, Francisco Carlos Pérez-Miralles, Eduardo López-Briz, Carmen Alcalá-Vicente, Inmaculada Galeano, Bonaventura Casanova, José Luis Poveda

Niemann-Pick Type C disease (NP-C) is a rare autosomal recessive lysosomal storage disorder due to mutations in either NPC1 (in 95% of the cases) or NPC2 genes, which led to dysregulation of lipid trafficking and accumulation of unesterified cholesterol and glycosphingolipids in diverse neurovisceral tissues [1,2].

Genetic association of STARD6 polymorphisms with Alzheimer's disease in a Korean population

Young Jong Kim, Jong-Woo Paik, Won Sub Kang, Su Kang Kim, Kang Joon Lee, Hae Ri Na, Hae Jeong Park, Jong Woo Kim, Hyun Kook Lim, Jin Kyung Park

Neurosteroids are synthesized and metabolized in the human brain, and alternation of neurosteroids has been observed in Alzheimer's disease (AD) [1]. In a postmortem study, there was a trend toward lower levels of neurosteroids in the brains of AD patients compared with the controls, and neurosteroid level was negatively correlated with the density of beta-amyloid deposits [2]. The rate-limiting step of neurosteroid synthesis is the transfer of cholesterol from the outer mitochondrial membrane to the inner membrane, which is controlled by the steroidogenic acute regulatory protein (StAR) [3].

Refractoriness to pharmacological treatment for tics: A multicentre European audit

A. Macerollo, D. Martino, A.E. Cavanna, M. Gulisano, A. Hartmann, P.J. Hoekstra, T. Hedderly, N.M. Debes, K. Muller-Vahl, I. Neuner, M. Porta, H. Rickards, R. Rizzo, F. Cardona, V. Roessner

Recently, a consensus definition of treatment responsiveness for obsessive-compulsive disorder has been reached through Delphi survey methodology, showing great potential for practical application in clinical care [1]. A standardized definition of refractoriness to pharmacological treatment of tics in TD (chronic tic disorders including Tourette Syndrome) would aid decisions on drug switch, psychological treatment or access to invasive treatments like functional surgery [2,3]. We conducted a European audit survey in order to: i) explore the main features that would define refractoriness of tics to pharmacological treatment, and ii) assess how consistently these features are taken into account in routine clinical practice.