Burden of illness in chronic inflammatory demyelinating polyneuropathy: some clarifications
(Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2020 Category: Neurology Source Type: research

Brain hyper-excitability in DPPX ataxia
(Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2020 Category: Neurology Source Type: research

Burden of illness in chronic inflammatory demyelinating polyneuropathy: some facts and solutions
(Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2020 Category: Neurology Source Type: research

Correction to: CT angiography vs echocardiography for detection of cardiac thrombi in ischemic stroke: a systematic review and meta-analysis
The original version of this article unfortunately contained a mistake. (Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2020 Category: Neurology Source Type: research

A rare case of acute motor axonal neuropathy and myelitis related to SARS-CoV-2 infection
We describe a rare case of post-infective Acute Motor Axonal Neuropathy (AMAN) variant of Guillain-Barr è Syndrome (GBS) associated with myelitis and anti-GD1b positivity after SARS-CoV-2 infection. The patient referred to the hospital reporting a history of ten days lasting moderate fever, myalgia and anosmia, with the onset of progressive quadriparesis and ascending paraesthesias in the four limbs since five days from defervescence. A chest computed tomography demonstrated interstitial pneumonia with “ground glass opacities”, suggesting Coronavirus disease (COVID-19). The patient exhibited three negati...
Source: Journal of Neurology - September 17, 2020 Category: Neurology Source Type: research

Corpus callosum infarction: radiological and histological findings
(Source: Journal of Neurology)
Source: Journal of Neurology - September 17, 2020 Category: Neurology Source Type: research

Patient perspectives on the therapeutic profile of botulinum neurotoxin type A in cervical dystonia
ConclusionsThis survey highlights the burden of CD symptoms, even in patients undergoing regular treatment. Symptom re-emergence is common and has significant impact on daily activities and quality of life. Greater awareness of the therapeutic profile of BoNT-A treatment should lead to better informed therapeutic discussions and planning. (Source: Journal of Neurology)
Source: Journal of Neurology - September 16, 2020 Category: Neurology Source Type: research

Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4
AbstractBackgroundNusinersen recently became available as the first treatment for Spinal Muscular Atrophy (SMA) and data on its effectiveness and safety in adult SMA patients are still scarce.MethodsWe evaluated the effectiveness and safety of nusinersen treatment during 14  months in 16 adult patients with SMA types 3 and 4 in a prospective study, and retrospectively detailed the natural history of 48 adult SMA patients types 2, 3 and 4.ResultsHand grip strength (p = 0.03), hand motor function (p = 0.04) as assessed by a sub-score of the Revised Upper Limb Module (RULM) and the Medical Res...
Source: Journal of Neurology - September 15, 2020 Category: Neurology Source Type: research

Assessment of Wearing Off in Parkinson ’s disease using objective measurement
ConclusionThe findings reported in this study provide evidence that identifying and treating WO improves outcomes of PwP and that objective measurements may help clinicians to identify and treat WO. (Source: Journal of Neurology)
Source: Journal of Neurology - September 15, 2020 Category: Neurology Source Type: research

Should I stop or should I go on? Disease modifying therapy after the first clinical episode of multiple sclerosis
We present a cohort of 49 patients who started DMT immediately after CIS and had no evidence of disease activity (NEDA-3) for at least five years before discontinuation of therapy. Thereafter, patients underwent clinical and MRI follow-up for at least five consecutive years.ResultsOf 49 patients discontinuing DMT, 53% (n = 26) had NEDA for at least further five years, while 47% (n = 23) showed either a relapse/disease progression (18.4%,n = 9), MRI activity (14.3%,n = 7) or both (14.3%,n = 7). The main predictive factor for sustained NEDA was age at DMT ...
Source: Journal of Neurology - September 14, 2020 Category: Neurology Source Type: research

Neurologic complications of Down syndrome: a systematic review
AbstractDown syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting nearly all organ systems. Improved healthcare interventions and research have allowed for increased life span of persons with DS, although disorders of the neurologic system remain underexplored. The purpose of this systematic review is to provide clinically pertinent information on the neurological phenotypes of frequently occurring or clinically relevant conditions. A retrospective review of MEDLINE, Scopus, and Pubmed were used to identify sources among sev...
Source: Journal of Neurology - September 12, 2020 Category: Neurology Source Type: research

COVID-19 infection in NMO/SD patients: a French survey
(Source: Journal of Neurology)
Source: Journal of Neurology - September 12, 2020 Category: Neurology Source Type: research

Epidemics and outbreaks of peripheral nervous system disorders: II. Toxic and nutritional causes
AbstractPeripheral neuropathies have various causes, both infectious and non-infectious. When we think of “epidemics”, we often refer to an infectious or even post-infectious origin. Nevertheless, the history of mankind is marked by episodes of epidemics of peripheral neuropathies of non-infectious nature, either of nutritional or toxic origin: we present here the main causes of such epidemics. (Source: Journal of Neurology)
Source: Journal of Neurology - September 11, 2020 Category: Neurology Source Type: research

Managing disorders of consciousness: the role of electroencephalography
AbstractDisorders of consciousness (DOC) are an important but still underexplored entity in neurology. Novel electroencephalography (EEG) measures are currently being employed for improving diagnostic classification, estimating prognosis and supporting medicolegal decision-making in DOC patients. However, complex recording protocols, a confusing variety of EEG measures, and complicated analysis algorithms create roadblocks against broad application. We conducted a systematic review based on English-language studies in PubMed, Medline and Web of Science databases. The review structures the available knowledge based on EEG m...
Source: Journal of Neurology - September 11, 2020 Category: Neurology Source Type: research

The gait disorder in primary orthostatic tremor
AbstractObjectiveTo uncover possible impairments of walking and dynamic postural stability in patients with primary orthostatic tremor (OT).MethodsSpatiotemporal gait characteristics were quantified in 18 patients with primary OT (mean age 70.5  ± 5.9 years, 10 females) and 18 age-matched healthy controls. One-third of patients reported disease-related fall events. Walking performance was assessed on a pressure-sensitive carpet under seven conditions: walking at preferred, slow, and maximal speed, with head reclination or eyes closed , and while performing a cognitive or motor dual-task paradigm.R...
Source: Journal of Neurology - September 11, 2020 Category: Neurology Source Type: research

Acute consequences of a unilateral VIIIth nerve transection on vestibulo-ocular and optokinetic reflexes in Xenopus laevis tadpoles
AbstractLoss of peripheral vestibular function provokes severe impairments of gaze and posture stabilization in humans and animals. However, relatively little is known about the extent of the instantaneous deficits. This is mostly due to the fact that in humans a spontaneous loss often goes unnoticed initially and targeted lesions in animals are performed under deep anesthesia, which prevents immediate evaluation of behavioral deficits. Here, we use isolated preparations ofXenopus laevis tadpoles with functionally intact vestibulo-ocular (VOR) and optokinetic reflexes (OKR) to evaluate the acute consequences of unilateral ...
Source: Journal of Neurology - September 11, 2020 Category: Neurology Source Type: research

Epidemics and outbreaks of peripheral nervous system disorders: I. infectious and immune-mediated causes
We describe here the three main infectious causes of epidemics that affect the peripheral nervous system: leprosy, poliomyelitis and diphtheria. We then discuss the main epidemics of immune-mediated origin. (Source: Journal of Neurology)
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

A systematic review of neuropsychiatric and cognitive assessments used in clinical trials for amyotrophic lateral sclerosis
ConclusionsTrials for people with ALS have neglected the importance of neuropsychiatric symptoms and cognitive impairment. Evaluation of these extra-motor features is essential to understanding the impact of candidate drugs on all symptoms of ALS.PROPSERO registrationCRD42020175612. (Source: Journal of Neurology)
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

Deep brain stimulation of the internal globus pallidus does not affect the limbic circuit in patients with Parkinson ’s disease: a PET study
ConclusionThe present study confirmed that GPi-DBS is an effective treatment in patients with advanced PD, owing to metabolic changes in the areas involved in motor execution. The absence of relative metabolic decrease in the limbic circuit and the few changes affecting the associative circuit could explain why GPi-DBS is cognitively safe. (Source: Journal of Neurology)
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

Correction to: Frequency of fatigue and its changes in the first 6  months after traumatic brain injury: results from the CENTER-TBI study
The original version of this article unfortunately contained a mistake. (Source: Journal of Neurology)
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

Spinal epidural abscess in COVID-19 patients
ConclusionWe wonder about the concentration of this uncommon disease in such a short period. To our knowledge, cases of spinal epidural abscess in COVID-19 patients have not been reported to date. We hypothesize that, in our patients, the spinal infection could have depended on the coexistence of an initially asymptomatic bacterial contamination. The well-known COVID-19-related endotheliitis might have created the conditions for retrograde bacterial invasion to the correspondent spinal epidural space.Furthermore, spinal epidural abscess carries a significantly high morbidity and mortality. It is difficult to diagnose, espe...
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy
(Source: Journal of Neurology)
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions
AbstractThe ataxias are a group of disorders that manifest with balance, movement, speech and visual problems. They can arise due to dysfunction of the cerebellum, the vestibular system and/or the sensory neurons. Genetic defects are a common cause of chronic ataxia, particularly common are repeat expansions in this group of conditions. Co-occurrence of cerebellar ataxia with neuropathy and vestibular areflexia syndrome has been termed CANVAS. Although CANVAS is a rare syndrome, on discovery of biallelic expansions in the second intron of replication factor C subunit 1 (RFC1) gene, we and others have found the phenotype is...
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

Hearing loss and cognitive decline in the general population: a prospective cohort study
ConclusionsHearing loss was associated with lower cognitive function at baseline and accelerated cognitive decline on a memory test. The association between hearing loss and accelerated cognitive decline was non-significant after additional adjustment for non-linear age effects. More evidence is needed to ensure the role of hearing loss as a modifiable risk factor for cognitive decline. (Source: Journal of Neurology)
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

Acute new-onset symptomatic seizures in the context of mild COVID-19 infection
(Source: Journal of Neurology)
Source: Journal of Neurology - September 10, 2020 Category: Neurology Source Type: research

Dopaminergic therapy and prefrontal activation during walking in individuals with Parkinson ’s disease: does the levodopa overdose hypothesis extend to gait?
AbstractThe “levodopa-overdose hypothesis” posits that dopaminergic replacement therapy (1) increases performance on tasks that depend on the nigrostriatal-pathway (e.g., motor-control circuits), yet (2) decreases performance on tasks that depend upon the mesocorticolimbic-pathway (e.g., prefrontal cortex, PFC). Previous work in Parkinson’s disease (PD) investigated this model while focusing on cognitive function. Here, we evaluated whether this model applies to gait in patients with PD and freezing of gait (FOG). Forty participants were examined in both the OFF anti-Parkinsonian medication state (h ypo-d...
Source: Journal of Neurology - September 9, 2020 Category: Neurology Source Type: research

Clinical characteristics in unilateral vestibular atelectasis
ConclusionWe described in this study the various clinical presentations of a disease rarely reported in vivo, UVA. Initial clinical presentation can appear similar to an acute vestibular deficit, a recurrent positional vertigo, or fluctuating dizziness. (Source: Journal of Neurology)
Source: Journal of Neurology - September 9, 2020 Category: Neurology Source Type: research

Polyradiculoneuropathy induced by immune checkpoint inhibitors: a case series and review of the literature
ConclusionPolyradiculoneuropathy induced by ICIs has a distinct subset of neurological irAEs and requires early recognition. (Source: Journal of Neurology)
Source: Journal of Neurology - September 9, 2020 Category: Neurology Source Type: research

SMILE: a predictive model for Scoring the severity of relapses in M ult I ple sc LE rosis
ConclusionThe predictive model we developed should prove useful for adapting therapeutic strategy of relapse and follow-up to individual patients. (Source: Journal of Neurology)
Source: Journal of Neurology - September 9, 2020 Category: Neurology Source Type: research

Effect of the COVID-19 pandemic on acute stroke reperfusion therapy: data from the Lyon Stroke Center Network
AbstractBackgroundThe coronavirus disease 2019 (COVID-19) pandemic would have particularly affected acute stroke care. However, its impact is clearly inherent to the local stroke network conditions. We aimed to assess the impact of COVID-19 pandemic on acute stroke care in the Lyon comprehensive stroke center during this period.MethodsWe conducted a prospective data collection of patients with acute ischemic stroke (AIS) treated with intravenous thrombolysis (IVT) and/or mechanical thrombectomy (MT) during the COVID-19 period (from 29/02/2020 to 10/05/2020) and a control period (from 29/02/2019 to 10/05/2019). The volume o...
Source: Journal of Neurology - September 9, 2020 Category: Neurology Source Type: research

Intrathecal treatment trial of rituximab in progressive MS: results after a 2-year extension
ConclusionsIT administration of rituximab via a ventricular catheter was well tolerated. Considering the meningitis cases, the risk of infection was not negligible. The continued loss of walking speed indicates that IT rituximab was not able to stop disease progression.Classification of evidenceThis study provides class IV evidence that intraventricularly administered rituximab in progressive MS is associated with a risk for bacterial meningitis and does not halt disease progression.EU Clinical Trial RegisterEudraCT; 2008-002626-11 and 2012-000721-53 (Source: Journal of Neurology)
Source: Journal of Neurology - September 8, 2020 Category: Neurology Source Type: research

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation
ConclusionThe finding of aHADHA mutation as a cause of CMT is of interest because its encoded protein is a subunit of the mitochondrial trifunctional protein (MTP) complex, a mitochondrial enzyme involved in long chain fatty acid oxidation. Long chain fatty acid oxidation is an important source of energy for skeletal muscles. The mutation found in CMT2-102 is only the second intronic mutation reported inGDAP1. The mutation in the CMT2-102 pedigree was outside the canonical splice site sequences, emphasizing the importance of careful examination of available intronic sequences in exome sequence data. (Source: Journal of Neurology)
Source: Journal of Neurology - September 8, 2020 Category: Neurology Source Type: research

Hemorrhagic reversible cerebral vasoconstriction syndrome: A retrospective observational study
AbstractBackground and purposeReversible cerebral vasoconstriction syndrome (RCVS) is characterized by recurrent thunderclap headaches associated with segmental vasoconstriction of cerebral arteries, which may result in intracranial hemorrhage (ICH). There is a lack of contemporary data available regarding the ICH burden in RCVS cohort. Our aim of the study is to assess the ICH burden, associated risk factors, and discharge outcome of ICH in patients with RCVS.MethodsAll patients diagnosed with RCVS in the 2016 Nationwide Readmission Database were identified using ICD-10 code after excluding patients with the concurrent di...
Source: Journal of Neurology - September 7, 2020 Category: Neurology Source Type: research

Inter-hospital transfer for mechanical thrombectomy within the supraregional stroke network NEVAS
AbstractBackgroundTelemedicine stroke networks are mandatory to provide inter-hospital transfer for mechanical thrombectomy (MT). However, studies on patient selection in daily practice are sparse.MethodsHere, we analyzed consecutive patients from 01/2014 to 12/2018 within the supraregional stroke network “Neurovascular Network of Southwest Bavaria” (NEVAS) in terms of diagnoses after consultation, inter-hospital transfer and predictors for performing MT. Degree of disability was rated by the modified Rankin Scale (mRS), good outcome was defined as mRS ≤ 2. Successful reperfusion was assume d w...
Source: Journal of Neurology - September 5, 2020 Category: Neurology Source Type: research

The immediate impact of the COVID-19 pandemic on motor neuron disease services and mortality in Scotland
(Source: Journal of Neurology)
Source: Journal of Neurology - September 5, 2020 Category: Neurology Source Type: research

Correction to: Pre-existing cerebrovascular disease and poor outcomes of COVID-19 hospitalized patients: a meta-analysis
The original version of this article unfortunately contained a mistake. The correct information is given below. (Source: Journal of Neurology)
Source: Journal of Neurology - September 5, 2020 Category: Neurology Source Type: research

Does pallidal neuromodulation influence cognitive decline in Huntington ’s disease?
ConclusionWe report an unexpected positive influence of GPi continuous electrical neuromodulation on the progression of global cognitive functioning in operated HD patients. This is the most important group of patients treated with this method to our knowledge whatever the sample size remains small. This result provides promising evidence of GPi-CEN efficacy not only in reducing chorea, but also in delaying cognitive decline in HD patients operated at an early stage of the disease. (Source: Journal of Neurology)
Source: Journal of Neurology - September 4, 2020 Category: Neurology Source Type: research

Manifold learning for amyotrophic lateral sclerosis functional loss assessment
We present a prognostic model for functional decline in ALS where outcome uncertainty is taken into account. Patient data were reduced and projected onto a 2D space using Uniform Manifold Approximation and Projection (UMAP), a novel non-linear dimension reduction technique. Information from 3756 patients was included. Development data were sourced from past clinical trials. Real-world population data were used as validation data. Predictors included age, gender, region of onset, symptom duration, weight at baseline, functional impairment, and estimated rate of functional loss. UMAP projection of patients showed an informat...
Source: Journal of Neurology - September 4, 2020 Category: Neurology Source Type: research

Cerebral venous thrombosis: clinical predictors and emerging treatments
(Source: Journal of Neurology)
Source: Journal of Neurology - September 4, 2020 Category: Neurology Source Type: research

Feasibility and initial validation of ‘HD-Mobile’, a smartphone application for remote self-administration of performance-based cognitive measures in Huntington’s disease
ConclusionsResults indicated robust known-groups, test –retest, concurrent validity, and sensitivity of HD-Mobile cognitive tasks. The study demonstrates the feasibility and utility of HD-Mobile for conducting convenient, frequent, and potentially ongoing assessment of HD samples without the need for in-person assessment. (Source: Journal of Neurology)
Source: Journal of Neurology - September 3, 2020 Category: Neurology Source Type: research

Change and onset-type differences in the prevalence of comorbidities in people with multiple sclerosis
ConclusionComorbidities are common at MS symptom onset and increase with MS duration. Having MS may thus contribute to accrual of comorbidities. This emphasises the importance of optimal screening for and management of comorbidities in early MS and throughout the disease course. (Source: Journal of Neurology)
Source: Journal of Neurology - September 3, 2020 Category: Neurology Source Type: research

Prevalence and impact of COVID-19 in Parkinson ’s disease: evidence from a multi-center survey in Tuscany region
AbstractBackgroundIf Parkinson ’s Disease (PD) may represent a risk factor for Coronavirus disease 2019 (COVID-19) is debated and there are few data on the direct and indirect effects of this pandemic in PD patients.ObjectiveIn the current study we evaluated the prevalence, mortality and case-fatality of COVID-19 in a PD cohort, also exploring possible risk factors. We also aimed to investigate the effect of lockdown on motor/non-motor symptoms in PD patients as well as their acceptability/accessibility to telemedicine.MethodA case-controlled survey about COVID-19 and other clinical features in PD patients living in ...
Source: Journal of Neurology - September 3, 2020 Category: Neurology Source Type: research

Parainfectious encephalitis in COVID-19: “The Claustrum Sign”
(Source: Journal of Neurology)
Source: Journal of Neurology - September 3, 2020 Category: Neurology Source Type: research

Bickerstaff encephalitis after COVID-19
(Source: Journal of Neurology)
Source: Journal of Neurology - September 3, 2020 Category: Neurology Source Type: research

Estimating the relative contribution of comorbidities in predicting health-related quality of life of people with multiple sclerosis
AbstractBackgroundLittle is known about the relative contribution of comorbidities in predicting the health-related quality of life (HRQoL) of people with Multiple Sclerosis (PwMS).ObjectiveTo determine the associations between the number of and individual comorbidities and HRQoL and estimate the relative contribution of different comorbidities on HRQoL.MethodsCross-sectional analysis of data on self-reported presence of 30 comorbidities and HRQoL from the Australian MS Longitudinal Study (AMSLS) participants (n = 902). HRQoL was measured using the Assessment of Quality of Life-8 Dimensions (AQoL-8D). Linear ...
Source: Journal of Neurology - September 2, 2020 Category: Neurology Source Type: research

Parkinson ’s disease laterality: a 11 C-PE2I PET imaging study
This study aims to characterise the trend of asymmetry in moderate-stage PD. We performed a 19-month longitudinal study in 27 patients with PET-CT imaging and appropriate clinical assessments.11C-PE2I non-displaceable binding potential (BPND) was calculated bilaterally for the striatum at baseline and follow-up to estimate the in vivo density of striatal dopamine transporters (DAT). Changes in striatal11C-PE2I BPND over time were more prominent in the ipsilateral as compared to contralateral side. Changes in MDS-UPDRS-III (motor component of the Movement Disorders Society Unified PD Rating Scale) were not different between...
Source: Journal of Neurology - September 2, 2020 Category: Neurology Source Type: research

Comorbidities contribute substantially to the severity of common multiple sclerosis symptoms
ConclusionsOur findings support that early recognition and optimal management of comorbidities, particularly of mental health and musculoskeletal disorders, could have a positive impact on the severity of symptoms of people with MS. (Source: Journal of Neurology)
Source: Journal of Neurology - September 2, 2020 Category: Neurology Source Type: research

An integrated perspective linking physiological and psychological consequences of mild traumatic brain injury
AbstractDespite the often seemingly innocuous nature of a mild traumatic brain injury (mTBI), its consequences can be devastating, comprising debilitating symptoms that interfere with daily functioning. Currently, it is still difficult to pinpoint the exact cause of adverse outcome after mTBI. In fact, extensive research suggests that the underlying etiology is multifactorial. In the acute and early sub-acute stages, the pathophysiology of mTBI is likely to be dominated by complex physiological alterations including cellular injury, inflammation, and the acute stress response, which could lead to neural network dysfunction...
Source: Journal of Neurology - August 13, 2020 Category: Neurology Source Type: research

J ózefa Franciszka Joteyko (1866–1928)
(Source: Journal of Neurology)
Source: Journal of Neurology - August 13, 2020 Category: Neurology Source Type: research

Emerging treatments for neuromyelitis optica spectrum disorder
(Source: Journal of Neurology)
Source: Journal of Neurology - August 13, 2020 Category: Neurology Source Type: research