Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome
ConclusionIndividuals with MELAS exhibit clinical phenotypes with varying degree of severity affecting multiple systems including auditory, visual, cardiovascular, endocrine, and nervous system. This is the first report to show that nuclear genetic factors influence the clinical outcomes/manifestations of MELAS subjects alone or in combination with m.3243A  >  G mutation. (Source: Journal of Neurology)
Source: Journal of Neurology - January 23, 2021 Category: Neurology Source Type: research

Anti-seizure medication is not associated with an increased risk to develop cancer in epilepsy patients
AbstractObjectiveWhether anti-seizure medication (ASM) increases the risk for cancer has been debated for decades. While for some ASM, a carcinoma-promoting effect has been suspected, carcinoma-protective effects have been shown for other ASM. However, the issue remains unresolved as data from preclinical and clinical studies have been inconsistent and contradictory.MethodsWe collected anonymous patient data from practice neurologists throughout Germany between 2009 and 2018 using the IMS Disease Analyzer database (QuintilesIMS, Frankfurt, Germany). People with epilepsy (PWE) with an initial cancer diagnosis and antiepilep...
Source: Journal of Neurology - January 23, 2021 Category: Neurology Source Type: research

Dystonia in Angelman syndrome: a common, unrecognized clinical finding
ConclusionsDystonia is a common and previously underrecognized clinical feature of adults and adolescents with AS. (Source: Journal of Neurology)
Source: Journal of Neurology - January 23, 2021 Category: Neurology Source Type: research

KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis
AbstractThere is increasing interest in the development of multiple sclerosis (MS) biomarkers that reflect central nervous system tissue injury to determine prognosis. We aimed to assess the prognostic value of kinesin superfamily motor protein KIF5A in MS by measuring levels of KIF5A in cerebrospinal fluid (CSF) combined with analysis of single nucleotide polymorphisms (SNPs;rs12368653 andrs703842) located within a MS susceptibility gene locus at chromosome 12q13 –14 region. Enzyme-linked immunosorbent assay was used to measure KIF5A in CSF obtained from two independent biobanks comprising non-inflammatory neurologi...
Source: Journal of Neurology - January 23, 2021 Category: Neurology Source Type: research

Bilateral vestibulopathy in anti-IgLON5 disease
(Source: Journal of Neurology)
Source: Journal of Neurology - January 23, 2021 Category: Neurology Source Type: research

Adjunctive steroids in adults with encephalitis: a propensity score analysis
We described the use and impact of adjunctive steroids on adverse clinical outcomes (ACO) in adults with encephalitis.MethodsRetrospective observational study of 230 adults with encephalitis at two tertiary care hospital systems in Houston, Texas, between August 2008 and September 2017. An ACO was assessed at the time of death or discharge and defined as a Glasgow Outcome Scale 1 –4. A propensity score analysis was performed.ResultsOut of 230 adult encephalitis patients enrolled, 121 (52.6%) received steroids. Adjunctive steroids were given more frequently to those who had focal neurological deficits (P =&thin...
Source: Journal of Neurology - January 21, 2021 Category: Neurology Source Type: research

Guillain –Barré syndrome in patients treated with immune checkpoint inhibitors
ConclusionAs complements to the safety data from RCTs, the current pharmacovigilance research helps establish a more detailed overview of ICI-related GBS, which facilitates the understanding of this rare adverse drug effect. (Source: Journal of Neurology)
Source: Journal of Neurology - January 21, 2021 Category: Neurology Source Type: research

Discontinuation and dose reduction of rituximab in relapsing –remitting multiple sclerosis
The objective of this study was to evaluate the effects on inflammatory disease activity after discontinuation or dose reductio n of rituximab in patients with RRMS or clinically isolated syndrome (CIS).MethodsIn this retrospective observational study, we included all RRMS and CIS patients ever treated with rituximab at the University Hospital of Ume å who had either; (1) discontinued treatment at any time or (2) reduced the dose to a mean of 
Source: Journal of Neurology - January 21, 2021 Category: Neurology Source Type: research

Letter to the editors: comment on “Emerging themes in idiopathic intracranial hypertension”
(Source: Journal of Neurology)
Source: Journal of Neurology - January 20, 2021 Category: Neurology Source Type: research

Clinical features and outcome of patients with primary central nervous system lymphoma admitted to the intensive care unit: a French national expert center experience
AbstractIntroductionTo describe the reasons for intensive care unit (ICU) admission and to evaluate the outcomes and prognostic factors of patients with primary central nervous system lymphoma (PCNSL) admitted to the ICU.Patients and methodsRetrospective observational cohort study of 101 PCNSL patients admitted to 3 ICUs over a two-decade period.ResultsAcute respiratory failure, mainly secondary to aspiration pneumonia andPneumocystis jirovecii pneumonia, was the leading reason for ICU admission (33%). Aspiration pneumonia was more common in patients with brainstem tumor (67% vs. 0%,p 
Source: Journal of Neurology - January 16, 2021 Category: Neurology Source Type: research

Telerehabilitation in response to constrained physical distance: an opportunity to rethink neurorehabilitative routines
The objective of this perspective is to highlight the benefits of remote administration of rehabilitative treatment, namely telerehabilitation, in counteracting physical distancing barriers in neurorehabilitation. Sustaining boosters of treatment outcome, such as compliance, sustainability, as well as motivation, telerehabilitation may adapt to multiple neurological conditions, with the further advantage of a high potential for individualization to patient ’s or pathology’s specificities. The effectiveness of telerehabilitation can be potentiated by several technologies available to date: virtual reality can re...
Source: Journal of Neurology - January 15, 2021 Category: Neurology Source Type: research

Decreased inflammatory cytokine production of antigen-specific CD4 + T  cells in NMDA receptor encephalitis
AbstractAnti-N-methyl-D-aspartate-receptor (NMDAR) encephalitis is the most common autoimmune encephalitis with psychosis, amnesia, seizures and dyskinesias. The disease is mediated by pathogenic autoantibodies against the NR1 subunit that disrupt NMDAR function. Antibody infusion into mouse brains can recapitulate encephalitis symptoms, while active immunization resulted also in strong T cell infiltration into the hippocampus. However, whether T cells react against NMDAR and their specific contribution to disease development are poorly understood. Here we characterized the ex vivo frequency and phenotype of circulating CD...
Source: Journal of Neurology - January 13, 2021 Category: Neurology Source Type: research

Cardiovascular magnetic resonance imaging and its role in the investigation of stroke: an update
AbstractRecent advances in complementary diagnostic exams have helped to clarify stroke etiology, not only by helping to confirm established stroke causes but also by unveiling new possible stroke mechanisms. Etiological investigation for cardioembolic stroke has benefited in the last years from information provided by studies analysing serum biomarkers, heart rhythm monitoring and imaging methods like cardiovascular magnetic resonance (CMR) imaging. CMR has been particularly important for the characterization of possible new cardioembolic stroke mechanisms including atrial cardiomyopathy, silent myocardial infarction and ...
Source: Journal of Neurology - January 13, 2021 Category: Neurology Source Type: research

Long-term psychosocial outcome following mild traumatic brain injury and minor stroke: a direct longitudinal comparison
ConclusionsPsychosocial outcome is largely comparable following mTBI and minor stroke. Specific attention should be paid to anxiety symptoms and cognitive problems in daily life for which uniform aftercare seems appropriate. (Source: Journal of Neurology)
Source: Journal of Neurology - January 13, 2021 Category: Neurology Source Type: research

Central and peripheral nervous system complications of COVID-19: a prospective tertiary center cohort with 3-month follow-up
ConclusionCNS  and PNS complications were common in hospitalized COVID-19 patients, particularly in the ICU, and often attributable to critical illness. When COVID-19 was the primary cause for neurological disease, no signs of viral neurotropism were detected, but laboratory changes suggested autoimmune-mediate d mechanisms. (Source: Journal of Neurology)
Source: Journal of Neurology - January 13, 2021 Category: Neurology Source Type: research

The use of calcitonin gene related peptide monoclonal antibodies in the difficult to treat migraine population
(Source: Journal of Neurology)
Source: Journal of Neurology - January 13, 2021 Category: Neurology Source Type: research

Higher midlife CAIDE score is associated with increased brain atrophy in a cohort of cognitively healthy middle-aged individuals
AbstractBackgroundStructural brain changes associated with Alzheimer ’s disease (AD) can occur decades before the onset of symptoms. The Cardiovascular Risk Factors, Aging, and Dementia (CAIDE) score has been suggested to be associated with accelerated brain atrophy in middle-aged subjects but the regional specificity of atrophic areas remains to be elucidated.Methods3T T1-weighted magnetic resonance imaging scans of 160 cognitively healthy middle-aged participants (mean age  = 52) in the PREVENT-Dementia cohort, from baseline and from follow-up after 2 years, were examined. Images were preprocesse...
Source: Journal of Neurology - January 9, 2021 Category: Neurology Source Type: research

Effect of melatonin supplementation on sleep quality: a systematic review and meta-analysis of randomized controlled trials
ConclusionWe found that the treatment with  exogenous melatonin has positive effects on sleep quality as assessed by the Pittsburgh Sleep Quality Index (PSQI) in adult. In adults with respiratory diseases, metabolic disorders, primary sleep disorders, not with mental disorders, neurodegenerative diseases and other diseases. (Source: Journal of Neurology)
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

Rituximab for the treatment of multiple sclerosis: a review
AbstractIn the last decades, evidence suggesting the direct or indirect involvement of B cells on multiple sclerosis (MS) pathogenesis has accumulated. The increased amount of data on the efficacy and safety of B-cell-depleting therapies from several studies has suggested the addition of these drugs as treatment options to the current armamentarium of disease modifying therapies (DMTs) for MS. Particularly, rituximab (RTX), a chimeric monoclonal antibody directed at CD20 positive B lymphocytes resulting in cell-mediated apoptosis, has been demonstrated to reduce inflammatory activity, incidence of relapses and new brain le...
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1 -associated ataxia
ConclusionEven though differences are observed between the recessive and dominant forms, it appears that a continuum exists between these two entities. While adding new symptoms associated withSTUB1 pathogenic variations, we insist on the difficulty of genetic counselling inSTUB1-related pathologies. Finally, we underscore the usefulness of DAT-scan as an additional clue for diagnosis. (Source: Journal of Neurology)
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

Head tremor and pain in cervical dystonia
We examined how severity of HT and pain are associated with age of CD onset and duration, and whether HT subtypes ( “jerky” or “regular”) exhibit distinct relationships between severity of HT and pain.MethodsThe severity of HT and pain were assessed with the Toronto Western Spasmodic Torticollis Rating Scale in retrospective review of 188 CD patients recruited through the Dystonia Coalition.ResultsHT severity was associated with longer CD duration (p 
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

Longitudinal cognitive and functional changes in primary progressive aphasia
ConclusionThe cognitive profiles of the PPA variants are distinct at baseline and over time. Crucially, cognitive decline in lv-PPA was more widespread and pervasive than in nfv-PPA and sv-PPA. Our findings also demonstrate the complex interplay between cognition and functional capacity. This study underscores the importance of routinely assessing cognition and functional capacity in PPA to improve diagnostic accuracy and provide targeted support services. (Source: Journal of Neurology)
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

Impact of comorbid Sj ögren syndrome in anti-aquaporin-4 antibody-positive neuromyelitis optica spectrum disorders
In this study, 4,447 patients suspected of having NMOSD with acute neurological episodes were evaluated for the positivity of serum AQP4-IgG, serum SS-A/Ro antibody, and the presence of SjS-related symptoms (dry eye, dry mouth).ResultsOf the 4,447 patients, 1,651 were positive for serum AQP4-IgG, and the remaining 2,796 were negative. A significantly higher proportion of AQP4-IgG-positive patients were positive for serum anti-SSA/Ro antibody (26.3 vs. 4.5%;p 
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia
(Source: Journal of Neurology)
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

William Gordon Lennox (1884 –1960)
(Source: Journal of Neurology)
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

Bilateral sequential sudden sensorineural hearing loss in protein S deficiency
(Source: Journal of Neurology)
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

Correction to: Refractory anti ‑NMDAR encephalitis successfully treated with bortezomib and associated movements disorders controlled with tramadol: a case report with literature review
The authors would like to correct some errors in the publication of the original article. The corrected and updated details are given below for your reading. (Source: Journal of Neurology)
Source: Journal of Neurology - January 8, 2021 Category: Neurology Source Type: research

A critical review of the pharmacological treatment of REM sleep behavior disorder in adults: time for more and larger randomized placebo-controlled trials
AbstractRapid Eye Movement sleep behavior disorder (RBD) is a parasomnia causing sufferers to physically act out their dreams. These behaviors can disrupt sleep and sometimes lead to injuries in patients and their bed-partners. Clonazepam and melatonin are the first-line pharmacological treatment options for RBD based on direct uncontrolled clinical observations and very limited double-blind placebo-controlled trials. Given the risk for adverse outcomes, especially in older adults, it is of great importance to assess the existing level of evidence for the use of these treatments. In this update, we therefore critically rev...
Source: Journal of Neurology - January 7, 2021 Category: Neurology Source Type: research

Wearables in the home-based assessment of abnormal movements in Parkinson ’s disease: a systematic review of the literature
AbstractAt present, the standard practices for home-based assessments of abnormal movements in Parkinson ’s disease (PD) are based either on subjective tools or on objective measures that often fail to capture day-to-day fluctuations and long-term information in real-life conditions in a way that patient’s compliance and privacy are secured. The employment of wearable technologies in PD represents a great paradigm shift in healthcare remote diagnostics and therapeutics monitoring. However, their applicability in everyday clinical practice seems to be still limited. We carried out a systematic search across the ...
Source: Journal of Neurology - January 6, 2021 Category: Neurology Source Type: research

Are some patient-perceived migraine triggers simply early manifestations of the attack?
AbstractObjectiveTo study the agreement between self-reported trigger factors and early premonitory symptoms amongst a group of migraineurs in both spontaneous and pharmacologically provoked attacks.MethodsFifty-three subjects with migraine with and without aura, with  ≤ 22 headache days/month, with spontaneous premonitory symptoms associated with migraine attacks were recruited nationally. A detailed history was taken by a study investigator to confirm diagnosis and extended phenotyping was performed to identify patient-reported triggers for migraine attac ks, premonitory symptom phenotype and headache ch...
Source: Journal of Neurology - January 5, 2021 Category: Neurology Source Type: research

Accuracy of non-guided versus ultrasound-guided injections in cervical muscles: a cadaver study
ConclusionsOur results indicate that US-guided injections are more accurate than non-guided injections in most cervical muscles. (Source: Journal of Neurology)
Source: Journal of Neurology - January 5, 2021 Category: Neurology Source Type: research

Differential effects of sex on longitudinal patterns of cognitive decline in Parkinson ’s disease
ConclusionsSex was revealed as a significant determinant of overall cognitive performance as well as specific cognitive domains, with a differential pattern of decline in male and female participants. Such sex-specific findings appear to explain some of the heterogeneity observed in PD, warranting further investigation of mechanisms underlying this sexual dimorphism. (Source: Journal of Neurology)
Source: Journal of Neurology - January 5, 2021 Category: Neurology Source Type: research

Cortical progression patterns in individual ALS patients across multiple timepoints: a mosaic-based approach for clinical use
ConclusionOur  strategy of estimating the extent of cortical atrophy in individual patients with ALS successfully corrects for demographic factors and captures relevant cortical changes associated with clinical disability. Our approach provides a framework to interpret single T1-weighted images in ALS and offers an opportunity to track cortical propagation patterns both at individual subject level and at cohort level. (Source: Journal of Neurology)
Source: Journal of Neurology - January 5, 2021 Category: Neurology Source Type: research

CASPR2 antibody-related movement disorders: case series
(Source: Journal of Neurology)
Source: Journal of Neurology - January 5, 2021 Category: Neurology Source Type: research

Correction to: Epidemics and outbreaks of peripheral nervous system disorders: I. infectious and immune-mediated causes
The original article can be found online. (Source: Journal of Neurology)
Source: Journal of Neurology - January 5, 2021 Category: Neurology Source Type: research

Correction to: Utility of the Parkinson ’s disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington’s disease
The original version of this article unfortunately contained a mistake. (Source: Journal of Neurology)
Source: Journal of Neurology - January 5, 2021 Category: Neurology Source Type: research

Suicidal ideation in early-onset Parkinson ’s disease
This study aimed to explore the prevalence, related factors, and predictive factors of SI i n EOPD patients as well as comparison of the prevalence in LOPD patients.MethodsWe conducted a case –control, cross-sectional, and longitudinal study. Propensity score matching (PSM) was used to balance the characteristics between EOPD (N = 577) and LOPD patients (N = 2973). The diagnosis of SI was based on the assessment of the Beck Depression Inventory (BDI). EOPD patients with a disease duration 
Source: Journal of Neurology - January 4, 2021 Category: Neurology Source Type: research

Social support is linked to mental health, quality of life, and motor function in multiple sclerosis
ConclusionsThese findings highlight associations of social support to overall psychological health and motor functioning in persons with MS, underlining the potential opportunity of evaluating and promoting social engagement in novel treatment strategies. (Source: Journal of Neurology)
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Early apixaban therapy after ischemic stroke in patients with atrial fibrillation
AbstractBackgroundThe optimal timing of anticoagulation after stroke in patients with atrial fibrillation (AF) is unknown. We aimed to objectively assess the rate of radiological hemorrhagic transformation (HT) associated with early anticoagulation.Patients and methodsA prospective, open label study (NCT04435418) of patients with AF treated with apixaban within 14  days of ischemic stroke/TIA onset was conducted. Baseline and follow-up CT scans were assessed for HT and graded using European Cooperative Acute Stroke Study (ECASS) criteria. The primary endpoint was symptomatic HT. Incident HT rates were assessed as Obje...
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Biochemical markers for severity and risk in GBA and LRRK2 Parkinson ’s disease
AbstractBackgroundThe phenotype of Parkinson ’s disease (PD) is variable with mutations in genes such asLRRK2 andGBA explaining part of this heterogeneity. Additional genetic and environmental factors contribute to disease variability.ObjectiveTo assess the association between biochemical markers, PD severity and probability score for prodromal PD, among GBA andLRRK2 mutation carriers.MethodsLevels of uric acid, vitamin D, C-reactive protein, microalbumin/creatinine ratio (ACR), white blood count (WBC), hemoglobin, platelets, neutrophil/lymphocyte ratio and estimated glomerular filtration rate (eGFR) were assessed fr...
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Neutrophil-to-lymphocyte ratio: a marker of neuro-inflammation in multiple sclerosis?
ConclusionsOur negative results do not support the use of NLR as a marker of disease activity and disability in patients with MS. (Source: Journal of Neurology)
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Pre-procedural predictive factors of symptomatic intracranial hemorrhage after thrombectomy in stroke
ConclusionsICH after MT was associated with several pre-procedural risk factors: prior use of antiplatelet therapies, high C-reactive protein and hyperglycemia at baseline, elevated mean arterial blood pressure, and low ASPECTS. (Source: Journal of Neurology)
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Comparison of N -methyl- d -aspartate receptor antibody assays using live or fixed substrates
AbstractThe diagnostic criteria forN-methyl-d-aspartate receptor antibody (NMDAR-Ab) encephalitis require the presence of CSF antibodies against the NMDAR, whereas serum antibodies are considered specific only if accompanied by CSF antibodies. Current assays include in-house immunochemistry (IHC), or cell-based assays (CBA) which use live (L-CBA) or fixed cells (F-CBA), and commercially available fixed-cells CBA (C-CBA), but these have not been compared in parallel. We compared the L-CBA with F-CBA, C-CBA, and IHC using sera and CSFs archived from  >  30,000 received for testing and previously positive by ...
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

The changing landscape of optic neuritis: a narrative review
AbstractOptic neuritis (ON) is an inflammatory optic neuropathy that is often a harbinger of central nervous system (CNS) demyelinating disorders. ON is frequently misdiagnosed in the clinical arena, leading to either inappropriate management or diagnostic delays. As a result, patients may fail to achieve optimal recovery. The treatment response to corticosteroids and long term risk of multiple sclerosis was established in the first clinical trials conducted roughly 30  years ago. Spontaneous resolution was observed in the vast majority of patients and intravenous high-dose corticosteroids hastened recovery; half of t...
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Clinical practice guidelines in idiopathic facial paralysis: systematic review using the appraisal of guidelines for research and evaluation (AGREE II) instrument
AbstractBell ’s palsy, or idiopathic facial paralysis, is a peripheral facial palsy of unknown cause that presents as sudden, unilateral weakness of the muscles of the face. Prompt treatment of Bell’s palsy is critical in order for patients to achieve complete recovery of facial function. Delays in diagnosis and management can result in permanent facial defects. A number of clinical practice guidelines (CPG) exist to guide clinical decision-making in patients presenting with idiopathic facial paralysis. However, to date, there has been no comprehensive review of the methodological rigor and quality of these CPG...
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Effects of a 12-week combined aerobic and strength training program in ambulatory patients with amyotrophic lateral sclerosis: a randomized controlled trial
ConclusionsA 12-week combined aerobic and strength training program is far superior to flexibility alone in improving respiratory function, mobility, and wellbeing in ambulatory ALS patients. (Source: Journal of Neurology)
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Jakub Rothfeld-Rostowski (1884 –1971)
(Source: Journal of Neurology)
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Superficial siderosis of the central nervous system associated with ventral dural defects: bleeding from the epidural venous plexus
ConclusionBleeding from the epidural venous plexus may be the cause of superficial siderosis associated with ventral dural defects. Neurosurgical repair may stop the progression of this condition. (Source: Journal of Neurology)
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Migraine in transient global amnesia: a meta-analysis of observational studies
ConclusionsA significant association between TGA and migraine was established. The underlying connecting mechanism remains undetermined, yet. (Source: Journal of Neurology)
Source: Journal of Neurology - January 2, 2021 Category: Neurology Source Type: research

SARS-CoV-2 infection in patients with primary central nervous system lymphoma
ConclusionThis preliminary analysis suggests that, while being at higher risk be for severe illness, PCNSL patients with COVID-19 might be treated maximally especially if they achieved oncological response at the time of SARS-CoV-2 infection. Chemotherapy might be resumed without prolonged delay in PCNSL patients with COVID-19. (Source: Journal of Neurology)
Source: Journal of Neurology - January 2, 2021 Category: Neurology Source Type: research