Editorials |
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Christoph Kamm
Although encountered rather infrequently in clinical practice, patients with autoimmune disorders affecting both the central and peripheral nervous system, also termed combined central and peripheral demyelination (CCPD), frequently pose a challenge for the clinical neurologist concerning differential diagnosis and especially therapeutic options. As of yet, only few case series and case reports reporting clinical characteristics and therapeutic outcome in these patients (adult and pediatric) have been published [1–4].
John D. England
One of the most pressing public health issues for 2016 is the Zika virus epidemic, which the World Health Organization (WHO) has designated as a Public Health Emergency of International Concern (PHEIC). The major reasons for world-wide concern are the apparent increases in the number of babies born with microcephaly and the number of cases of Guillain-Barre syndrome (GBS) in the countries where Zika infection is widespread. A direct causal link between infection with the Zika virus and these neurological conditions is strongly suspected, but has not been proven.
David Z. Rose
It has been known for decades that cigarette smoking is associated with an increased risk of stroke. In 1988, the Framingham Heart Study cohort showed that even after age and hypertension were taken into account, smoking was significantly related to stroke [1]. This risk increased with greater number of cigarettes smoked, and conversely, after two years of cessation, decreased significantly, and by five years reached the level of nonsmokers.
Review Articles |
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Patients with Parkinson's disease (PD) may develop several non-motor symptoms such as psychosis, depression, cognitive impairment, autonomic disturbances and sleep disturbances. Psychosis is one of the common non-motor symptoms, which commonly manifests as visual hallucinations and minor hallucinations such as sense of passage and presence. Though long-term dopaminergic therapy, longer duration of PD and cognitive impairment have been described as risk factors for emergence of psychosis in PD, predicting psychosis in PD remains challenging.
To provide an up-to-date estimate on the changing prevalence of stroke survivors, and examines the geographic and socioeconomic variations in low and middle-income countries (LMICs).
Autism spectrum disorders denote a series of lifelong neurodevelopmental conditions characterized by an impaired social communication profile and often repetitive, stereotyped behavior. Recent years have seen the complex genetic architecture of the disease being progressively unraveled with advancements in gene finding technology and next generation sequencing methods. However, a complete elucidation of the molecular mechanisms behind autism is necessary for potential diagnostic and therapeutic applications.
Basic Research Papers |
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Early morning off (EMO) is a symptom experienced by patients with Parkinson's disease (PD) in any stage of the illness; however, few studies have explored its prevalence. Thus, the impact of EMO on patient Quality of Life (QOL) and caregiver burden is unclear.
A balance of fluid intake and output (fluid balance) influences outcomes of critical illness, but the level of such influence remains poorly understood for traumatic brain injury (TBI) and was quantitatively examined in this study.
To explore the risk factors associated with acute/subacute cerebral infarction (ASCI) in HIV-negative patients with cryptococcal meningitis (CM).
Antibodies against neurofascin, an axo-glial protein located around the node of Ranvier, have been shown to contribute to axonal pathology both in vitro and in experimental autoimmune encephalomyelitis models. Moreover, small case studies have reported anti-NF antibodies in samples from patients with progressive multiple sclerosis (MS).
Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6 years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS).
Guillain–Barré syndrome (GBS), Miller Fisher syndrome (MFS), and Bickerstaff brainstem encephalitis (BBE) are usually monophasic, but some patients experience recurrences after long asymptomatic intervals. We aimed to investigate clinical features of recurrent GBS, MFS, and BBE at a single hospital.
Divry van Bogaert Syndrome (DBS) is a familial juvenile-onset disorder characterized by livedo racemosa, white matter disease, dementia, epilepsy and angiographic finding of "cerebral angiomatosis". A similar syndrome including livedo racemosa and cerebrovascular disease, often associated with anticardiolipin antibodies, has been described as Sneddon Syndrome (SS) highlighting the question whether these two conditions have to be considered different entities or indeed different features of a unique syndrome.
To identify serum microRNA-29a (miR-29a) level in patients with intracranial aneurysm and its role in the development of intracranial aneurysm (IA).
We evaluated relationships between diffusion tensor imaging (DTI) findings and clinical profiles in idiopathic normal-pressure hydrocephalus (INPH) patients, along with differences in DTI parameters between cerebrospinal fluid tap test (CSFTT) responders and non-responders. Fifty-four INPH patients constituted the final group for analysis. Fractional anisotropy (FA), axial diffusivity, radial diffusivity, and mean diffusivity were assessed using atlas-based tract-mapping methods on 20 different fiber tracts.
Neuromyelitis optica spectrum disorder (NMOSD) has been differentiated from relapsing-remitting multiple sclerosis (RRMS) by clinical, laboratory, and pathological findings, including the presence of the anti-aquaporin 4 antibody. Measurement of evoked potentials (EPs) is often used for the diagnosis of RRMS, although the possibility of applying EPs to the diagnosis of NMOSD has not been investigated in detail. Eighteen patients with NMOSD and 28 patients with RRMS were included in this study. The patients' neurological symptoms and signs were examined and their EPs were recorded.
Depression and anxiety are common among patients with multiple sclerosis (MS) and are frequently present at the time of MS diagnosis.
Although Parkinson's disease (PD) is defined by its motor symptoms, it is now well recognised that cognitive, affective and emotion domains are also impaired. The pathophysiology of these disabling non-motor symptoms (NMS) remains unclear; recently the involvement of limbic areas, including the insula, in the neurodegenerative process has been suggested to have a key role. These areas, and the insula in particular, are also been suggested as key regions for interoception; interoceptive sensitivity (IS) is a measure of the accuracy of perception of sensations from inside the body related to the function of internal organs.
Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity and weakness. The aim of this study is to determine the frequency of different SPG mutations in Hungarian patients, and to provide further genotype-phenotype correlations for the known HSP causing genes.
Sumoylation regulates transcription factor transactivation, protein-protein interactions, and appropriate subcellular localization of certain proteins. Previous studies have shown that sumoylation of amyloid precursor protein (APP) is associated with decreased levels of amyloid beta (Aβ) proteins, suggesting that sumoylation may play a role in the pathogenesis of Alzheimer's disease (AD). We investigated the association between polymorphisms of the SUMO genes and the risk of AD. Our study subjects consisted of 144 AD patients and 335 healthy controls without dementia.
Tourette syndrome (TS) is a neurodevelopmental condition characterised by multiple tics and co-morbid behavioural problems. Previous research found that up to 76% of patients with TS experience affective symptoms, with 13% fulfilling diagnostic criteria for depression.
The use of rodent stroke models allow for the understanding of stroke pathophysiology. There is currently no gold standard neurological assessment to measure deficits and recovery from stroke in rodent models. Agreement on a universal preclinical stroke scale allows for comparison of the outcomes among conducted studies. The present study aimed to compare three routinely used neurological assessments in rodent studies (i.e., Garcia, Modo, and Longa) to determine which is most effective for accurately and consistently quantifying neurological deficits in the context of focal middle cerebral artery occlusion (MCAo) in rats.
Subjective reports of sleep disturbance are a common feature of Huntington's disease (HD); however, there is limited research investigating the relationship between sleep problems with changes in brain and behaviour. This study aimed to investigate whether subjective reports of sleep problems in HD are associated with brain volume, neurocognitive decline, and neuropsychiatric symptoms. This retrospective pilot study used brain volume, neurocognitive and neuropsychiatric data from premanifest (pre-HD) and symptomatic HD (symp-HD).
Sonography of peripheral nerves can depict alteration of nerve sizes that could reflect inflammation and edema in inflammatory and demyelinating neuropathies. Guillain-Barré syndrome (GBS). Information on sonographic comparison of an axonal subtype (acute motor [and sensory] axonal neuropathy [AMAN and AMSAN]) and a demyelinating subtype (acute inflammatory demyelinating polyneuropathy [AIDP]) has been sparse.
Stent-assisted coiling and balloon-assisted coiling are well-established minimally invasive techniques for treatment of intracranial aneurysms. The aim of this study was to use meta-analysis methods to compare clinical outcomes of aneurysms treated with stent-assisted coiling versus balloon-assisted coiling.
Recreational marijuana use is considered to have few adverse effects. However, recent evidence has suggested that it precipitates cardiovascular and cerebrovascular events. Here, we investigated the relationship between marijuana use and hospitalization for acute ischemic stroke (AIS) using data from the largest inpatient database in the United States.
Clinical Short Communications |
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The evaluation of hyperechogenicity of the substantia nigra (SN) by transcranial sonography (TCS) is validated for the diagnosis of Parkinson's disease (PD). However, its correlation with the severity of motor involvement is still uncertain.
We investigated auras in patients with drug-resistant temporal lobe epilepsy (TLE) and mesial temporal sclerosis (MTS). We also investigated the clinical differences between patients with MTS and abdominal auras and those with MTS and non-mesial temporal auras. All patients with drug-resistant TLE and unilateral MTS who underwent epilepsy surgery at Jefferson Comprehensive Epilepsy Center from 1986 through 2014 were evaluated. Patients with good postoperative seizure outcome were investigated. One hundred forty-nine patients (71 males and 78 females) were studied.
Recent analysis of archived temporal arteries (TAs) acquired from 13 pathology laboratories in the US, Canada, Iceland, France, Germany and Israel from patients with pathologically-verified giant cell arteritis (GCA-positive) and TAs from patients with clinical features and laboratory abnormalities of GCA but whose TAs were pathologically negative (GCA-negative) revealed VZV antigen in most TAs from both groups. Despite formalin-fixation, VZV DNA was also found in many VZV-antigen positive sections that were scraped, subjected to DNA extraction, and examined by PCR with VZV-specific primers.
In this study we assessed the proportion of patients with relapsing multiple sclerosis (R-MS) who had No Evidence of Disease Activity (NEDA-3), defined as absence of relapses, absence of confirmed disability worsening, and absence of radiological activity (detected by magnetic resonance imaging of the brain and spinal cord) up to 7 years after starting natalizumab. Out of 152 patients considered, 58 were still on treatment and 94 discontinued treatment after a median time of 3 years. According to an intention-to-treat approach, 52 (34%) patients maintained the NEDA status at the end of follow-up.
The neurological manifestations of Systemic Lupus Erythematosus (SLE) are varied and incompletely described. A few case series report a benign idiopathic intracranial hypertension (IIH) related to SLE, which is responsive to immunotherapy. There are limited reports of patients with malignant cerebral edema, and diffuse white matter changes in the absence of central nervous system (CNS) vasculitis.
Although the strongest predictor of falling in Parkinson's disease is the number of falls in the preceding year, little information is available on what types of daily activities (ADLs) that are associated with a significant fall risk in this population.
Letters to the Editor |
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Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a recently reported inflammatory disease of the central nervous system (CNS) [1–2]. Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) is an uncommon form of non-Hodgkin lymphoma [3]. We report the case of a patient who developed CLIPPERS within 1 year of remission of PTCL-NOS after chemotherapy.
Hirayama disease, also known as juvenile asymmetric segmental spinal muscular atrophy, is a rare, self-limiting, cervical myelopathy predominantly affecting adolescent males. Its main feature is focal upper limb amyotrophy in the distribution of C7, C8, and T1- innervated muscles. It is usually monomelic, but bilateral affection, occasionally symmetric, has also been described [1–5]. An irregular tremor (minipolymyoclonus), present when outstretching the hands, has been reported in the context of Hirayama disease [1–6].
Prion Diseases or Transmissible Spongiform Encephalopathies (TSEs) constitute rare neurodegenerative diseases, the most common being Creutzfeldt–Jakob disease (CJD). Fifteen percent (15%) of the cases worldwide are considered to be of the familial type and the remainder (85%) present as a sporadic disorder (sCJD) [1]. The familial (or genetic) type includes: genetic CJD (gCJD), fatal familial insomnia (FFI), and Gerstmann–Sträussler–Scheinker syndrome (GSS) [2]. Here we present the clinical findings of an Argentinean family with GSS due to mutation at codon 117 of the prion protein gene (PrPA117V), the first in Argentina and in Latin America.
The acute disseminated encephalomyelitis (ADEM) is an acute inflammatory demyelinating disease affecting the central nervous system [1]. A monophasic abnormal autoimmune reaction directed against normal brain tissue has been proposed as the primary pathogenesis. Here, we present a life-threatening case of ADEM in a pregnant woman.
Periodic alternating nystagmus (PAN) refers to a horizontal jerk nystagmus that reverses its direction every 90–120 s with a brief transition period [1]. PAN is explained by an unstable velocity-storage mechanism due to loss of cerebellar inhibition, but with an intact adaptive mechanism that normally acts to null any bias that had induced a sustained vestibular nystagmus [1]. Baclofen, a GABA agonist, potentiates the nodulo-uvular inhibition over the velocity storage system, and has been the drug of choice in PAN [1].
The number of patients undergoing weight loss surgery in Western countries has dramatically increased during the past 20 years [1].
The clinical spectrum of anti-voltage gated potassium channel (VGKC) complex antibody-mediated autoimmunity has been known to be broad and affect both the peripheral and central nervous systems [1]. Among these, myelopathy occurs in 2.8% of cases; however, no previously reported cases had high titres of anti-VGKC complex antibodies [2]. We herein report a case of immunotherapy-responsive spastic paraparesis with myokymia/fasciculation accompanied with extremely high titres of anti-VGKC complex antibodies.
Primary systemic AL amyloidosis is a hematological disease characterized by diffuse deposition of amyloid fibrils derived from immunoglobulin light chains, mainly in heart, kidney, liver, gastrointestinal tract, and peripheral nervous system. Axonal sensory and autonomic polyneuropathy is associated with AL amyloidosis in up to 35% of cases [1,2]. Atypical presentations of neuropathy include multiple mononeuropathies, chronic progressive autonomic failure, and chronic inflammatory demyelinating neuropathy [3].
We read with great interest the discussion of possible therapeutic potential of anti-elastase agents against influenza virus-associated encephalopathy (IE) in the clinical research paper by Sun et al. [1]. Recently, we had an opportunity to examine the kinetics of serum neutrophil elastase (NE) in the acute clinical course of three patients, aged 12 to 14 months, who were diagnosed with human herpes virus 6 (HHV6)-associated acute encephalopathy with febrile convulsive status epilepticus (AEFCSE), one of whom had moderate neurological sequelae with secondary epilepsy and developmental retardation.
The recent article by Mesquita et al. [1] published in this journal is very interesting. Their case developed acute bilateral vestibulocochlear neuritis following cultured cell vaccine administration for rabies postexposure prophylaxis. However, we have some comments regarding this article.
Rabies is a zoonotic viral disease transmitted only in mammals, caused by RNA virus of the Family Rhabdoviridae, Genus Lyssavirus. The disease occurs in almost all continents and is responsible for approximately 55,000 to 70,000 deaths/year worldwide [1]. In Brazil, rabies is a public health concern with a total of 574 cases registered from 1990 to 2014 [2].
Corrigendum |
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The authors of the above paper have noticed errors in Fig. 2. The corrections and the amended figure are below.