JNS-cover.jpgJournal of Neurological Sciences

Vol 356 | No. 1-2 | 15 September 2015 | Pages 1-120

President's Column

Neurodegenerative noncommunicable diseases (Neurology NCDs). Where are we now?

Raad Shakir

In 2006, Neurological Disorders: Public Health Challenges was published by the WHO, with World Federation of Neurology (WFN) participation [1]. It is clearly stated, "there is ample evidence that pinpoints neurological disorders as one of the greatest threats to public health". Neurodegenerative disorders were well covered as a major challenge. Rita Levi-Montalcini, Nobel Laureate 1986, wrote the foreword to the book. She stated "the burden of neurological disorders is reaching a significant proportion of countries with a growing percentage of the population over 65 years old".



MicroRNAs as promising novel biomarkers and potential drug targets for inflammatory neurological diseases

Fredrik Piehl, Maja Jagodic

This issue of the Journal of the Neurological Sciences features a paper by Rostedt Punga and co-workers who determined the serum levels of two microRNAs (miRNAs), selected based on their initial profiling study [1], in patients with Myasthenia gravis (MG). They describe significantly elevated levels of miR-150 and miR-21 in serum of MG patients compared both to healthy blood donors and several autoimmune disease controls (Psoriasis, Addison's and Crohn's disease). Furthermore, the levels of these miRNAs were reduced in MG patients on immunosuppressive treatment compared to MG patients without such treatment.

Chemosensory disturbances-associated nanocholinergic dysfunction: The case of, not only, myasthenia gravis

Fidias E. Leon-Sarmiento, Juan S. Leon-Ariza, Diddier G. Prada, Daniel S. Leon-Ariza

The first description of myasthenia gravis (MG) made in 1672, by Thomas Willis, showed fluctuating weakness in human voluntary muscles from limbs and face, that recovered after a period of rest [1]. Simpson, in 1960, proposed autoimmunity as the cause of MG [1]. Since 1976, a number of antibodies against the different nicotinic and muscarinic constituents of the acetylcholine receptor have been discovered in MG [1,2].



MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives

Giulia Stuppia, Federica Rizzo, Giulietta Riboldi, Roberto Del Bo, Monica Nizzardo, Chiara Simone, Giacomo P. Comi, Nereo Bresolin, Stefania Corti

Mitofusin 2 (MFN2) is a GTPase dynamin-like protein of the outer mitochondrial membrane, encoded in the nuclear genome by the MFN2 gene located on the short (p) arm of chromosome 1. MFN2 protein is involved in several intracellular pathways, but is mainly involved in a network that has an essential role in several mitochondrial functions, including fusion, axonal transport, interorganellar communication and mitophagy. Mutations in the gene encoding MFN2 are associated with Charcot–Marie–Tooth disease type 2A (CMT2A), a neurological disorder characterized by a wide clinical phenotype that involves the central and peripheral nervous system.

Bing–Neel syndrome: Two unexpected cases and a review of the literature

M.G. Van Cauwenberge, B. Depreter, E.N. Dumoulin, J. Emmerechts, F. Nollet, L.J. Vanopdenbosch

Waldenström macroglobulinemia (WM) is a lymphoplasmacytic lymphoma characterized by the proliferation of small B-lymphocytes in the bone marrow that produce monoclonal immunoglobulin M (IgM). We describe two patients with WM who presented with neurological symptoms due to infiltration of lymphoplasmacytoid tumor cells in the central nervous system, a condition known as Bing–Neel syndrome. A literature review revealed that this syndrome is rare and commonly missed in clinical practice due to its variable presentation and a lack of awareness or knowledge.

Hemifacial spasm: The past, present and future

Neera Chaudhry, Abhilekh Srivastava, Laxmikant Joshi

Hemifacial spasm is characterised by unilateral contractions of the facial muscles. Though considered to be benign by many people, it can lead to functional blindness and a poor quality of life due to social embarrassment for the suffering individual. Botulinum toxin therapy is an excellent noninvasive tool to treat this condition. However, surgical decompression of the aberrant vessel is also an upcoming approach to therapy for this condition.

Cognitive and neuroanatomical correlates of neuropsychiatric symptoms in Parkinson's disease: A systematic review

Hamad Alzahrani, Annalena Venneri

Neuropsychiatric symptoms are one of the most common non-motor symptoms in Parkinson's disease (PD). These symptoms have a negative impact on daily living activities and cognitive abilities. This review will be centred on published articles which focused on clarifying the cognitive and neuroanatomical features associated with the appearance of specific neuropsychiatric symptoms in this disease.

Hypnic headache in childhood: A literature review

Raimundo Pereira Silva-Néto, Kelson James Almeida

Hypnic headache (HH) is a rare benign disorder described initially by Raskin in 1988. It is characterized by recurrent nocturnal episodes of headache that periodically awaken the sleeping patient and usually occur in the elderly. This review is aimed at describing the clinical features of the HH cases in childhood that have been published in literature so far. Based on a literature search in the major medical databases (LiLacs, SciELO, Bireme, Scopus, EBSCO and PubMed), we have analyzed the case reports on HH in childhood that have been published between 1988 (the first description) and 2014.          

Art and dystonia

Pedro J. Garcia-Ruiz, Jaroslaw Slawek, Emilia J. Sitek, Juan Carlos Martinez Castrillo

Dystonia has a recent history in medicine. Focal dystonia was described in the 19th century by classic authors including Gowers, whilst generalized dystonia was described at the turn of the century. However, it is possible to find precise descriptions of dystonia in art, centuries before the medical definition. We have reviewed several pieces of art (sculpture, painting and literature) across the history that might represent descriptions of dystonia, from ancient period to nowadays. In classic times, the first reference to abnormal postures can be tracked back to the new Empire of Egypt (equinus foot), not to mention some recently described examples of dystonia from the Moche sculptures in Peru or Veracruz culture from Mexico.


Original Articles

Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis

Sasan Andalib, Mahnaz Talebi, Ebrahim Sakhinia, Mehdi Farhoudi, Homayoun Sadeghi-Bazargani, Albert Gjedde

Multiple sclerosis (MS) affects the brain and spinal cord and long has been the topic of global research; yet there is no commonly accepted cause and no cure for the disease. Mounting evidence supports the role of genetics in susceptibility to MS. From this perspective, a current effort focuses on the neurogenetics of the complex pathogenesis of MS in relation to factors such as mitochondrial DNA (mtDNA) variations. T4216C and A4917G are common mitochondrial gene variations associated with MS. The present study tested whether mtDNA T4216C variation in the NADH Dehydrogenase 1 (ND1) mtDNA gene and A4917G variation in the mtDNA NADH Dehydrogenase 2 (ND2) gene are associated with MS in an Iranian population.

Correlation of matrix metalloproteinase-2 single nucleotide polymorphisms with the risk of small vessel disease (SVD)

Min Zhang, Wusheng Zhu, Wenwei Yun, Qizhang Wang, Maogang Cheng, Zhizhong Zhang, Xinfeng Liu, Xianju Zhou, Gelin Xu

Maladjustment of matrix metalloproteinases (MMPs) results in cerebral vasculature and blood–brain barrier dysfunction, which is associated with small vessel disease (SVD). This study was to aim at evaluating correlations between matrix metalloproteinase-2 and 9 single nucleotide polymorphisms and the risk of SVD.

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

Raffaella Di Giacopo, Luciano Cianetti, Viviana Caputo, Ilaria La Torraca, Fiorella Piemonte, Andrea Ciolfi, Simona Petrucci, Claudio Carta, Paolo Mariotti, Vincenzo Leuzzi, Enza Maria Valente, Adele D'Amico, Annarita Bentivoglio, Enrico Bertini, Marco Tartaglia, Giuseppe Zampino

This work investigated the molecular cause responsible for a late-onset parkinsonism–dystonia phenotype in three Italian siblings, and clinically characterize this condition.

High Angiopoietin-1 levels predict a good functional outcome within 72 h of an aneurysmal subarachnoid hemorrhage: A prospective study from a single center

Yi Wang, Ye Tian, Dong Wang, Huijie Wei, Zilong Zhao, Rongcai Jiang, Shuyuan Yue, Jianning Zhang

The consequences of aneurysmal subarachnoid hemorrhage (aSAH) are lifelong and fatal. Angiopoietin-1 (Ang-1) and Angiopoietin-2 (Ang-2) play an important role in the regulation of vascular structure and function. Our study examined the association between angiopoietin levels and functional outcomes among aSAH patients.

Effects of dalfampridine on multi-dimensional aspects of gait and dexterity in multiple sclerosis among timed walk responders and non-responders

A.C. Lo, J.A. Ruiz, C.M. Koenig, B.M. Anderson, K.M. Olson, E.W. Triche

Dalfampridine extended release 10 mg tablets (D-ER) have demonstrated improvement in walking for ambulatory persons with multiple sclerosis (pwMS), termed "responders."

Isolated hippocampal infarcts: Vascular and neuropsychological findings

Emre Kumral, Emrah Emre Deveci, CanEmre Erdoğan, Ceren Enüstün

The hippocampus plays a role in the verbal and spatial memory processing, learning, and emotions. The purpose of this study was to determine clinical, etiological, and radiological features of isolated hippocampal infarcts.

Disease specific signature of circulating miR-150-5p and miR-21-5p in myasthenia gravis patients

Anna Rostedt Punga, Mats Andersson, Mohammad Alimohammadi, Tanel Punga

  • DOI: http://dx.doi.org/10.1016/j.jns.2015.06.019
  • p90–96
  • Published online: June 13 2015
  • Open Access
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Reliable biological markers for patients with the autoimmune neuromuscular disorder myasthenia gravis (MG) are lacking. We determined whether levels of the circulating immuno-microRNAs miR-150-5p and miR-21-5p were elevated in sera from clinically heterogeneous MG patients, with and without immunosuppression, as compared to healthy controls and patients with other autoimmune disorders.

Evaluation of the King–Devick test as a concussion screening tool in high school football players

Daniel H. Seidman, Jennifer Burlingame, Lina R. Yousif, Xinh P. Donahue, Joshua Krier, Lydia J. Rayes, Rachel Young, Muareen Lilla, Rochelle Mazurek, Kristie Hittle, Charles McCloskey, Saroj Misra, Michael K. Shaw

Concussion is the most common type of traumatic brain injury, and results from impact or impulsive forces to the head, neck or face. Due to the variability and subtlety of symptoms, concussions may go unrecognized or be ignored, especially with the pressure placed on athletes to return to competition. The King–Devick (KD) test, an oculomotor test originally designed for reading evaluation, was recently validated as a concussion screening tool in collegiate athletes. A prospective study was performed using high school football players in an attempt to study the KD as a concussion screening tool in this younger population.

Lack of association between mitochondrial DNA G15257A and G15812A variations and multiple sclerosis

Sasan Andalib, Mahnaz Talebi, Ebrahim Sakhinia, Mehdi Farhoudi, Homayoun Sadeghi-Bazargani, Albert Gjedde

Multiple sclerosis (MS) is a debilitating disease of the central nervous system for which no definitive therapy has yet been developed. The etiology remains uncertain, but there is evidence of genetic susceptibility to the disease, including contributions from mitochondrial DNA (mtDNA) variations to the pathogenesis of MS. G15257A and G15812A are variations of the mtDNA tRNA(Thr) gene in MS sufferers of different populations. The present study tested the hypothesis of an association of the G15257A and G15812A variations of the mtDNA tRNA(Thr) gene to the susceptibility to MS in an Iranian population.

Event related potential and response time give evidence for a physiological reserve in cognitive functioning in relapsing–remitting multiple sclerosis

Mathias Sundgren, Åke Wahlin, Liselotte Maurex, Tom Brismar

Cognitive dysfunction is common in multiple sclerosis (MS). Different factors may moderate the degree of cognitive deficit. The aim of the present study was to distinguish different mechanisms for cognitive reserve in relapsing–remitting MS (RRMS). The effects of clinical variables (physical disability, depression), premorbid intelligence (years of education, vocabulary knowledge), visual event-related potential measures (P300) and response time (RT) were studied in RRMS patients (n = 71) and healthy subjects (n = 89).    

A prediction model of falls for patients with neurological disorder in acute care hospital

Sung-Hee Yoo, Sung Reul Kim, Yong Soon Shin

For the prevention of falls, individual fall risk assessment is the necessary first step. Thus, we attempted to identify independent risk factors for falls and develop a prediction model using a scoring system for patients with neurological disorders in acute hospital settings. This study was a secondary analysis of a previous study performed to compare the reliability and validity of three well-known fall assessment tools in patients with neurological disorders. We considered comorbid diseases and potential medications in addition to variables included in the three tools.          

GM1 ganglioside in Parkinson's disease: Pilot study of effects on dopamine transporter binding

Jay S. Schneider, Franca Cambi, Stephen M. Gollomp, Hiroto Kuwabara, James R. Brašić, Benjamin Leiby, Stephanie Sendek, Dean F. Wong

Results of this pilot imaging study provide additional data to suggest a potential disease modifying effect of GM1 on PD. These results need to be confirmed in a larger number of subjects.

Amyloid deposits and response to shunt surgery in idiopathic normal-pressure hydrocephalus

Kotaro Hiraoka, Wataru Narita, Hirokazu Kikuchi, Toru Baba, Shigenori Kanno, Osamu Iizuka, Manabu Tashiro, Shozo Furumoto, Nobuyuki Okamura, Katsutoshi Furukawa, Hiroyuki Arai, Ren Iwata, Etsuro Mori, Kazuhiko Yanai

In previous studies, patients with idiopathic normal-pressure hydrocephalus (iNPH) occasionally showed Alzheimer's pathology in frontal lobe cortical biopsy during cerebrospinal fluid shunt surgery or intracranial pressure monitoring. In clinical practice, the differential diagnosis of iNPH from Alzheimer's disease (AD) can be problematic, particularly because some iNPH cases exhibit AD comorbidity. In this study, we evaluated amyloid deposition in the brains of patients with iNPH before shunt surgery, and investigated the association between brain amyloid deposits and clinical improvement following the surgery.

Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease

Carmen Noelker, Lixia Lu, Matthias Höllerhage, Franca Vulinovic, Annekathrin Sturn, René Roscher, Günter U. Höglinger, Etienne C. Hirsch, Wolfgang H. Oertel, Daniel Alvarez-Fischer, Hartmann Andreas

Gaucher disease is an autosomal recessive disease, caused by a lack or functional deficiency of the lysosomal enzyme, glucocerebrosidase (GCase). Recently, mutations in the glucocerebrosidase gene (GBA) have been associated with Parkinson's disease (PD) and GBA mutations are now considered the most important genetic vulnerability factor for PD. In this study, we have investigated (i) in vivo whether inhibition of the enzyme glucosylceramide synthase by miglustat may protect C57Bl/6 mice against subchronic 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) intoxication and (ii) in vitro whether a decrease of GCase activity may render dopaminergic neurons susceptible to MPP+ (1-methyl-4-phenylpyridinium) or alpha-synuclein (α-Syn) toxicity and amenable to miglustat treatment.

Multiple sclerosis and breast cancer

P.W. O'Malley, Z.D. Mulla, O. Nesic

Multiple sclerosis (MS) and breast cancer (BC) share common features; most notably, both are more frequent in women than in men. In addition to the involvement of sex hormones, a number of genetic and pharmacological studies support a possible relationship between these two diseases. However, there are no conclusive epidemiological findings related to MS and BC worldwide, and there are no recent data for the US population. We conducted a case–control study using a hospital inpatient discharge dataset (21,536 cases and two control series totaling 59,581 controls) from the Texas Health Care Information Collection.        

A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia

Ken Sano, Shiroh Miura, Toshiya Fujiwara, Ryuta Fujioka, Akiko Yorita, Kazuhito Noda, Hiroshi Kida, Koichi Azuma, Shinjiro Kaieda, Ken Yamamoto, Takayuki Taniwaki, Yasuyuki Fukumaki, Hiroki Shibata

Persistent elevation of serum creatine kinase (CK) without any symptoms has been called idiopathic hyper CK-emia (IHCK). We examined a four-generation Japanese pedigree of familial IHCK. The multipoint linkage analysis of the pedigree showed seven clear peaks of logarithm of odds (LOD) scores (> 1.4). By the exome sequencing followed by multiple filtering processes, we identified one novel heterozygous nonsynonymous single nucleotide variant (SNV), c.7034G>C, p.S2345T in the ryanodine receptor 1 gene, RYR1 cosegregated with IHCK in the pedigree.    

The influence of different classification standards of age groups on prognosis in high-grade hemispheric glioma patients

Jian-Wu Chen, Chang-Fu Zhou, Zhi-Xiong Lin

  • DOI: http://dx.doi.org/10.1016/j.jns.2015.06.036
  • p148–152
  • Published online: June 18 2015
  • Open Access
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Although age is thought to correlate with the prognosis of glioma patients, the most appropriate age-group classification standard to evaluate prognosis had not been fully studied. This study aimed to investigate the influence of age-group classification standards on the prognosis of patients with high-grade hemispheric glioma (HGG). This retrospective study of 125 HGG patients used three different classification standards of age-groups (≤ 50 and > 50 years old, ≤ 60 and > 60 years old, ≤ 45 and 45–65 and ≥ 65 years old) to evaluate the impact of age on prognosis.  

Single nucleotide polymorphisms of TNF-Α gene in febrile seizures

Ameneh Zare-Shahabadi, Mahmoud Reza Ashrafi, Amin Shahrokhi, Samaneh Soltani, Samaneh Zoghi, Farin Soleimani, Roshanak Vameghi, Reza Shervin Badv, Nima Rezaei

Febrile seizures (FS) is the most common seizure disorder during childhood. This study was performed in 78 patients with FS and 137 control subjects to assess polymorphisms of the TNF-α gene at positions − 308 and − 238, using the polymerase chain reaction and the sequence specific primers method. The highest positive allelic association that made the patients susceptible to FS was seen for TNF-α − 238/G (p < 0.0001). The GG genotype at TNF-α − 238 was significantly higher in the patients with FS, compared to the controls (p = 0.0001).    

Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J mice

Blythe C. Dillingham, Margaret E. Benny Klimek, Ramkishore Gernapudi, Sree Rayavarapu, Eduard Gallardo, Jack H. Van der Meulen, Sarah Jordan, Beryl Ampong, Heather Gordish-Dressman, Christopher F. Spurney, Kanneboyina Nagaraju

The dysferlin-deficient A/J mouse strain represents a homologous model for limb-girdle muscular dystrophy 2B. We evaluated the disease phenotype in 10 month old A/J mice compared to two dysferlin-sufficient, C57BL/6 and A/JOlaHsd, mouse lines to determine which functional end-points are sufficiently sensitive to define the disease phenotype for use in preclinical studies in the A/J strain. A/J mice had significantly lower open field behavioral activity (horizontal activity, total distance, movement time and vertical activity) when compared to C57BL/6 and A/JoIaHsd mice.

Inverse association between yerba mate consumption and idiopathic Parkinson's disease. A case–control study

Emilia Mabel Gatto, Carlos Melcon, Virginia L. Parisi, Leonardo Bartoloni, Claudio D. Gonzalez

Yerba mate tea is a very common beverage in some countries of South America. We conducted a case–control study on an individual basis using hospital records to investigate the association between Parkinson's disease (PD) and yerba mate intake. A case was defined as an age of ≥ 40 years with ≥ 1 year of PD. Each case was individually matched by two controls. Exposure was measured by yerba mate consumption, coffee, tea, and alcohol intake and smoking status. The sample consisted of 223 PD patients (mean age 68 years and mean disease duration 7.3 years) and 406 controls.  

Thalamocortical Sensorimotor Circuit Damage Associated with Disorders of Consciousness for Diffuse Axonal Injury Patients

Shun Yao, Jian Song, Lichen Gao, Yan Yan, Cheng Huang, Huichao Ding, He Huang, Yuanzhi He, Ronghui Sun, Guozheng Xu

The relationship of structural and functional brain damage and disorders of consciousness (DOC) for diffuse axonal injury (DAI) is still not fully explored. We employed diffusion tensor imaging (DTI) and resting-state fMRI (RS-fMRI) to examine the changes of resting activations and white matter (WM) integrity for DAI with DOC. WM damages were observed in the body and genu of the corpus callosum, right external capsule (EC) and superior corona radiate (SCR), left superior cerebellar peduncle (SCP) and posterior thalamic radiation (PTR).

Recovery of thalamic microstructural damage after Shiga toxin 2-associated hemolytic–uremic syndrome

Julia Krämer, Michael Deppe, Kerstin Göbel, Karsten Tabelow, Heinz Wiendl, Sven G. Meuth

The underlying pathophysiology of neurological complications in patients with hemolytic–uremic syndrome (HUS) remains unclear. It was recently attributed to a direct cytotoxic effect of Shiga toxin 2 (Stx2) in the thalamus. Conventional MRI of patients with Stx2-caused HUS revealed – despite severe neurological symptoms – only mild alterations if any, mostly in the thalamus. Against this background, we questioned: Does diffusion tensor imaging (DTI) capture the thalamic damage better than conventional MRI? Are neurological symptoms and disease course better reflected by thalamic alterations as detected by DTI? Are other brain regions also affected?

Do executive dysfunction and freezing of gait in Parkinson's disease share the same neuroanatomical correlates?

Florian Brugger, Eugenio Abela, Stefan Hägele-Link, Stephan Bohlhalter, Marian Galovic, Georg Kägi

Current hypotheses postulate a relationship between executive dysfunction and freezing of gait (FOG) in Parkinson's disease (PD). Hitherto, most evidence comes from entirely clinical approaches, while knowledge about this relationship on the morphological level is sparse. The aim of this study was therefore to assess the overlap of gray matter atrophy associated with FOG and executive dysfunction in PD. We included 18 PD patients with FOG and 20 without FOG in our analysis. A voxel-based morphometry approach was used to reveal voxel clusters in the gray matter which were associated with FOG and executive dysfunction as measured by the Frontal Assessment Battery, respectively.

Olfactory and gustatory dysfunction in Myasthenia gravis: A study in Turkish patients

Hakan Tekeli, Mehmet G. Senol, Aytug Altundag, Esin Yalcınkaya, Mustafa T. Kendirli, Halit Yaşar, Murat Salihoglu, Omer Saglam, Melih Cayonu, Enver Cesmeci, Thomas Hummel

Myasthenia gravis (MG) is commonly viewed as a muscle disorder. Less is known about neurosensory function and dysfunction in MG. We aim to evaluate olfactory and gustatory behavior in Turkish patients with MG, and compare these results with age and sex-matched healthy controls.


Short Communications

Multiple cerebral infarctions in a young patient with heroin-induced hypereosinophilic syndrome

Jan Bolz, Saskia H. Meves, Kaffer Kara, Anke Reinacher-Schick, Ralf Gold, Christos Krogias

Hypereosinophilic syndrome (HES) is defined as a primary or secondary proliferation of eosinophil granulocytes in the peripheral blood (> 1.5/nl) or the bone marrow for at least 6 months or as a medical condition requiring an eosinophil lowering treatment [1]. Involvement of various organs can occur. In addition to hematological and cardiac pathologies, neurological alterations such as inflammatory mono- or polyneuropathies, stroke and psychological disorders have been described. In about 12% of the cases, HES leads to cerebral infarction [2].

Familial forms of multiple sclerosis and neuromyelitis optica at an MS center in Rio de Janeiro State, Brazil

Regina M. Papais-Alvarenga, Fernanda F.C. Costa Pereira, Melina S. Bernardes, Marcos Papais-Alvarenga, Elizabeth Batista, Carmen A. Paiva, Claudia Miranda Santos, Claudia C.F. Vasconcelos

To describe familial forms of demyelinating diseases from an MS referral center in Río de Janeiro State, Brazil.


Case Report

Iowa-type hereditary cerebral amyloid angiopathy in a Polish family

Piotr Iwanowski, Wojciech Kozubski, Jacek Losy

Cerebral amyloid angiopathy (CAA) is a progressive degenerative process caused by the deposition of amyloid protein in the wall of vessels of the cerebral cortex and leptomeninges [1,8,9]. This leads to the development of microaneurysms, hemorrhagic and ischaemic brain injury [2]. CAA usually occurs sporadically in older individuals, but in young-onset cases it may be associated with mutations in genes encoding the amyloid-beta precursor protein (APP) (familial form of amyloid angiopathy Dutch type), cystatin (Icelandic type), gelsolin (Finnish type), and others [4].


Letters to the Editor

Long-term observations in asymmetric immune-mediated neuropathy with vagus hypertrophy using ultrasound of the nerves

Alexander Grimm, Maria Rasenack, Ioanna Athanasopoulou, Nils Peters, Peter Fuhr

The clinical presentation of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) regularly consists of progressive or relapsing–remitting symmetric distal sensory disturbances in hands and feet as well as proximal flaccid paraparesis [1]. Diagnosis is made by nerve conduction studies (NCS) and increased cerebrospinal fluid protein without significant pleocytosis. However, variants of CIDP exist, e.g., the multifocal acquired demyelinating sensory and motor neuropathy (MADSAM). Treatment options for all CIDP-variants include systemic steroids, immunoglobulins (IVIg) and immunosuppressants [2].

CLIPPERS: Long term management?

Nabeel Muzaffar Syed, Arsalan Ahmad

We read with interest the Letter to the Editor titled "MRI evolution of CLIPPERS syndrome following herpes zoster infection" published in the Journal of the Neurological Sciences [1], describing a patient with CLIPPERS who has been in remission on mycophenolate 500 mg twice daily and prednisone 7.5 mg per day. Since, we are also treating a case of CLIPPERS that we have already reported [2], we want to share our experience of his management.

Primary writing tremor is a dystonic trait: Evidence from an instructive family

Roberto Erro, Matteo Ciocca, Stephanie T. Hirschbichler, John C. Rothwell, Kailash P. Bhatia

Primary writing tremor (PWT) is a task-specific tremor that occurs with writing [1]. Given its rarity, PWT pathophysiology is still unknown. There has been debate about this entity and it has been construed to be a form of Essential Tremor (ET) [2,3] or a form of dystonia as associated with writer's cramp (WC) [4]. This leaves the question open as to whether PWT should be classified as a discrete entity, a variant of ET, or as focal dystonia. We wish to shed light into the pathophysiology of PWT, reporting on an instructive family with 3 affected members with different phenotypes, including PWT.

Overlap of autism spectrum disorder and glucose transporter 1 deficiency syndrome associated with a heterozygous deletion at the 1p34.2 region

Myung Sik Lee, Yun Joong Kim, Eun Joo Kim, Myung Jun Lee

Autism spectrum disorders (ASD) can be classified according to the presence (complex form) or absence (essential form) of microcephaly and dysmorphic features [1]. Phenotypes of ASD can be seen in single-gene disorders, including tuberous sclerosis, fragile X-syndrome and Rett syndrome [1,2]. Here, we present a 14-year-old boy who developed complex ASD in association with a heterozygous microdeletion at the 1p34.2 region.

Orthodeoxia–platypnea syndrome and stroke: Overlapping pathophysiology

Célia Machado, Ricardo Pereira, José Amorim, Carlos Galvão, João Pinho, Carla Ferreira, João Rocha

Orthodeoxia–platypnea syndrome (OPS) is a rare cause of dyspnea and hypoxemia induced by upright positioning due to orthostatic conditions [1]. Right-to-left interatrial shunt due to an atrial septal defect or patent foramen ovale (PFO) is the most common cause of this syndrome [2]. Although PFO has been implicated as a potential cause of paradoxical embolism and cerebral embolism in cryptogenic stroke [3], OPS due to PFO has rarely been described presenting as stroke [2,4,5].

Multifocal dystonia as a manifestation of acute midbrain infarction

Hye-Yeon Choi, Yu Jin Jung, Hae-Won Shin

The basal ganglia-motor loop is considered a neural substrate related to dystonia [1]. More recently, the cerebellar-motor loop has been implicated as a key anatomical region associated with dystonia [2]. Case studies have shown secondary dystonia in patients with lesions in the cerebellum or the cerebellar-motor connections [3,4]. It is unclear whether the cerebellum is the origin of dystonia or connects the cerebellar and basal ganglia loops [5]. This study describes a patient with multifocal dystonia combined with ataxia in an acute midbrain infarction.



Corrigendum to "Steroid-responsive autoimmune encephalopathy associated with autoimmune thyroiditis (SREAT) presenting with myoclonus–dystonia syndrome" [J. Neurol. Sci. 354 pp. 110–111]

Petra Bago Rožanković, Marjan Rožanković, Ivana Šušak, Ivan Vlahović, Davor Sporiš

The paper 'Steroid-responsive autoimmune encephalopathy associated with autoimmune thyroiditis (SREAT) presenting with myoclonus–dystonia syndrome' was unfortunately published with only the first author listed.