Prognostic value of ‘late’ electroencephalography recordings in patients with cardiopulmonal resuscitation after cardiac arrest
AbstractBackgroundElectroencephalography (EEG) significantly contributes to the neuroprognostication after resuscitation from cardiac arrest. Recent studies suggest that the prognostic value of EEG is highest for continuous recording within the first days after cardiac arrest. Early continuous EEG, however, is not available in all hospitals. In this observational study, we sought to evaluate the predictive value of a ‘late’ EEG recording 5–14 days after cardiac arrest without sedatives.MethodsWe retrospectively analyzed EEG data in consecutive adult patients treated at the medical intensive care unit...
Source: Journal of Neurology - April 19, 2021 Category: Neurology Source Type: research

Visual evoked potential latency predicts cognitive function in people with multiple sclerosis
This study provides evidence that VEP latency delays index general neural inefficiency that is associated with cognitive disturbances in PwMS. (Source: Journal of Neurology)
Source: Journal of Neurology - April 18, 2021 Category: Neurology Source Type: research

Neuropsychological and neuroimaging characteristics of classical superficial siderosis
ConclusionNeuropsychological disturbances are common in iSS and need to be routinely investigated. The lack of association between the anatomical extent of hemosiderin and cognitive impairment or disease duration suggests that hemosiderin itself is not directly neurotoxic. Additional biomarkers of iSS disease severity and progression are needed for future research and clinical trials. (Source: Journal of Neurology)
Source: Journal of Neurology - April 17, 2021 Category: Neurology Source Type: research

Structural MRI substrate of long-duration response to levodopa in Parkinson ’s disease: an exploratory study
ConclusionsParkinsonian patients who will develop a LDR toL-dopa may present, before starting treatment, peculiar structural conditions in cortical areas involved in motor control. Our exploratory study suggests that some cortical structural changes may predispose individual patients for developing the LDR toL-dopa. (Source: Journal of Neurology)
Source: Journal of Neurology - April 17, 2021 Category: Neurology Source Type: research

Comment on the paper Negative anti-SARS-CoV-2 S antibody response following Pfizer SARS-CoV-2 vaccination in a patient on ocrelizumab : the likely explanation for this phenomenon based on our observations
(Source: Journal of Neurology)
Source: Journal of Neurology - April 16, 2021 Category: Neurology Source Type: research

Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study
ConclusionHeterogeneity in Friedreich ataxia progression is observed at the neurobiological level, with evidence of earlier cerebellar and later cerebral degeneration. (Source: Journal of Neurology)
Source: Journal of Neurology - April 15, 2021 Category: Neurology Source Type: research

High prevalence of serum anti-NH 2 -terminal of α-enolase antibodies in patients with multiple system atrophy and corticobasal syndrome
ConclusionsAnti-NAE antibodies are detected in some patients clinically diagnosed with MSA and CBS. Although its pathophysiological significance remains uncertain, serum anti-NAE antibodies might represent a prognostic marker in the clinical course of MSA. (Source: Journal of Neurology)
Source: Journal of Neurology - April 15, 2021 Category: Neurology Source Type: research

The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era
ConclusionEven in an area with previously high ascertainment, there has been a 45.9% increase in manifest Huntington disease over the last 30  years. Within our catchment area, prevalence varies between health board regions with similar community-based services. Such variation in prevalence could have major drug cost and service delivery implications, especially if expensive, complexly administered therapies prove successful. Health serv ices should gather accurate population-based data on a regional basis to inform service planning. (Source: Journal of Neurology)
Source: Journal of Neurology - April 15, 2021 Category: Neurology Source Type: research

Do anti-CGRP drugs have a role in migraine aura therapy?
(Source: Journal of Neurology)
Source: Journal of Neurology - April 15, 2021 Category: Neurology Source Type: research

Atrioventricular block after fingolimod resumption: a consequence of sphingosine-1-phosphate axis alteration due to COVID-19?
We report the occurrence of atrioventricular block following fingolimod restart. Fingolimod acts on sphingosine-1-phosphate-axis, a pathway that is altered with COVID-19 and hypoxic conditions. Herein we discuss how these metabolic changes may have influenced fingolimod pharmacology leading to a cardiac event. (Source: Journal of Neurology)
Source: Journal of Neurology - April 14, 2021 Category: Neurology Source Type: research

Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis
In conclusion, the available data showed that ERT has a s ignificant beneficial efficacy in the improvement of walking distance in LOPD patients and a non-significant improvement of muscle strength. No improvement in respiratory capacity was found. More prospective and controlled trials are needed to demonstrate a clear clinical benefit of ERT. (Source: Journal of Neurology)
Source: Journal of Neurology - April 13, 2021 Category: Neurology Source Type: research

Disease-modifying therapies and SARS-CoV-2 vaccination in multiple sclerosis: an expert consensus
AbstractCoronavirus disease (COVID-19) appeared in December 2019 in the Chinese city of Wuhan and has quickly become a global pandemic. The disease is caused by the severe acute respiratory syndrome coronavirus type-2 (SARS-CoV-2), an RNA beta coronavirus phylogenetically similar to SARS coronavirus. To date, more than 132 million cases of COVID19 have been recorded in the world, of which over 2.8 million were fatal (https://coronavirus.jhu.edu/map.html). A huge vaccination campaign has started around the world since the end of 2020. The availability of vaccines has raised some concerns among neurologists regarding the saf...
Source: Journal of Neurology - April 12, 2021 Category: Neurology Source Type: research

Does radiological conjugate eye deviation sign play a role in acute stroke imaging? A meta-analysis
ConclusionRCED can be used to predict LVO-AIS. It is expected that this method will be extensively used and validated in acute stroke imaging, especially under emergency conditions with limited resources. (Source: Journal of Neurology)
Source: Journal of Neurology - April 11, 2021 Category: Neurology Source Type: research

LeSCoD: a new clinical scale for the detection of Lewy body disease in neurocognitive disorders
ConclusionLeSCoD scale is a simple and reliable tool for the evaluation of Lewy body disease in routine clinical practice, with a higher sensitivity and specificity than the existing criteria. It might be an alternative to the use of dopamine-specific imaging. (Source: Journal of Neurology)
Source: Journal of Neurology - April 8, 2021 Category: Neurology Source Type: research

Brain hypometabolic changes in 14 adolescent –adult patients with Niemann–Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography
ConclusionsWe found bilateral symmetric hypometabolism of the frontal lobes, thalami and parietal lobes (especially posterior cingulate gyrus) to be typical of adolescent –adult NPC. Ataxia was commonly associated with cerebellar or thalamic hypometabolism. Frontal lobe hypometabolism showed the best inverse correlation with clinical severity. (Source: Journal of Neurology)
Source: Journal of Neurology - April 8, 2021 Category: Neurology Source Type: research

Palilalia as a prominent feature of anti-NMDA receptor encephalitis in a woman with COVID-19
(Source: Journal of Neurology)
Source: Journal of Neurology - April 8, 2021 Category: Neurology Source Type: research

Chronic low-dose intravenous immunoglobulins as steroid-sparing therapy in myasthenia gravis
AbstractIntroductionIntravenous immunoglobulin (IVIg) has been proven beneficial in myasthenic crisis, but their role as maintenance therapy is unclear. The aim of this study was to determine if maintenance therapy with low-dose IVIg improves clinical outcome and may be used as a steroid-sparing agent in myasthenia gravis (MG).MethodsWe retrospectively reviewed charts of all MG patients treated with IVIg from January 2006 to December 2019. Long-term treatment response to IVIg was assessed by improvement in the Myasthenia Gravis Foundation of America (MGFA) clinical classification scale as primary end point, as well as the ...
Source: Journal of Neurology - April 7, 2021 Category: Neurology Source Type: research

Cortical diffusion kurtosis imaging and thalamic volume are associated with cognitive and walking performance in relapsing –remitting multiple sclerosis
ConclusionCortical diffusion and thalamic volume are associated with walking and cognitive performance in RRMS patients and are highly affected by the presence of WM lesions. (Source: Journal of Neurology)
Source: Journal of Neurology - April 7, 2021 Category: Neurology Source Type: research

Clinical presentation and autonomic profile in Ross syndrome
ConclusionsThe pattern of autonomic dysfunction in Ross syndrome is suggestive of a limited autonomic ganglioneuropathy. Sudomotor impairment is prominent and should be the focus of symptomatic management; however, clinicians should be aware of symptoms beyond the classic triad. (Source: Journal of Neurology)
Source: Journal of Neurology - April 3, 2021 Category: Neurology Source Type: research

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
ConclusionDe novo occurrence of the loss-of-functionSTUB1 variant in our case with multisystemic ataxia provides a qualitatively additional line of evidence for STUB1-disease as an autosomal-dominant disorder, in which the same neurological systems are affected as in its autosomal-recessive counterpart. Moreover, this finding adds support for loss-of-function as a mechanism underlying autosomal-dominant STUB1-disease, thus mirroring its autosomal-recessive counterpart also in terms of the underlying mutational mechanism. (Source: Journal of Neurology)
Source: Journal of Neurology - April 3, 2021 Category: Neurology Source Type: research

Association of serum neurofilament light chain levels with clinicopathology of chronic inflammatory demyelinating polyneuropathy, including NF155 reactive patients
AbstractObjectivesTo clarify whether serum neurofilament light chains (NfLs) serve as a biomarker of axonal damage in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), especially in patients with anti-neurofascin 155 (NF155) antibodies.MethodsThe Simoa system was used to examine serum NfL levels from 58 patients with CIDP, including 13 anti-NF155 antibody-positive patients, and from 14 age- and sex-matched healthy individuals. Serum NfL levels were evaluated before and after treatment in eight patients with anti-NF155 antibodies. Clinical features, electrophysiological findings, and cerebrospinal flui...
Source: Journal of Neurology - April 2, 2021 Category: Neurology Source Type: research

Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection
We present a challenging case of an adult patient with a known diagnosis of Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) complicated by COVID-19 infection. She initially presented with altered mental status and vomiting and went on to develop a stroke-like episode, pancreatitis, and pneumatosis intestinalis. We review salient features of her hospitalization, including initiation of thromboprophylaxis in relation to intravenous arginine therapy, caution regarding medications such as remdesivir, and the incidence of gastrointestinal complications. (Source: Journal of Neurology)
Source: Journal of Neurology - April 1, 2021 Category: Neurology Source Type: research

SQSTM1 variant in disorders of the frontotemporal dementia –amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature
ConclusionAlthough rare, mutations in SQSTM1 can lead to various clinical subtypes of FTD and FTD-ALS, including the rare combination of PNFA and PBP. Exon missense mutation is the main type of mutation, which is common in the UBA domain. (Source: Journal of Neurology)
Source: Journal of Neurology - March 24, 2021 Category: Neurology Source Type: research

Mild cognitive impairment with Lewy bodies: blood perfusion with arterial spin labelling
ConclusionWe found patterns of altered perfusion in MCI-LB which are similar to those seen in dementia with Lewy bodies, with reduction in posterior parietal and occipital regions, but relatively preserved posterior cingulate. (Source: Journal of Neurology)
Source: Journal of Neurology - March 24, 2021 Category: Neurology Source Type: research

Management of Parkinson's disease patients after DBS by remote programming: preliminary application of single center during quarantine of 2019-nCoV
ConclusionRemote programming based on the online evaluation of patient ’s symptoms can help improve motor symptoms of postsurgical DBS patients with PD during the quarantine period caused by 2019-nCoV. (Source: Journal of Neurology)
Source: Journal of Neurology - March 24, 2021 Category: Neurology Source Type: research

Efficacy and safety of perampanel in refractory and super-refractory status epilepticus: cohort study of 81 patients and literature review
ConclusionsPerampanel is effective and has a satisfactory safety profile in the emergency treatment of established RSE and SRSE. (Source: Journal of Neurology)
Source: Journal of Neurology - March 22, 2021 Category: Neurology Source Type: research

Vestibular paroxysmia associated with typewriter tinnitus: a case report and literature review
(Source: Journal of Neurology)
Source: Journal of Neurology - March 21, 2021 Category: Neurology Source Type: research

Diagnostic value of video-oculography in progressive supranuclear palsy: a controlled study in 100 patients
ConclusionsIn accordance with oculomotor features in the current PSP diagnostic criteria, video-oculographic assessment of vertical saccade velocity and saccadic intrusions resulted in very high specificity. Asymmetry of vertical saccade velocities, in the opposite, did not prove to be useful for diagnostic purposes. (Source: Journal of Neurology)
Source: Journal of Neurology - March 21, 2021 Category: Neurology Source Type: research

The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients
AbstractBackgroundThe cerebellar cognitive affective syndrome scale (CCAS-S) was recently developed to detect specific neuropsychological deficits in patients with cerebellar diseases in an expedited manner.ObjectivesTo evaluate the discriminative ability of the CCAS-S in an etiologically homogeneous cohort of spinocerebellar ataxia type 3 (SCA3) patients and to examine relationships between cognitive deficits and motor symptom  severity.MethodsThe CCAS-S was administered to twenty mildly to moderately affected SCA3 patients and eighteen healthy controls matched for age, sex, and educational level. Disease severity wa...
Source: Journal of Neurology - March 20, 2021 Category: Neurology Source Type: research

Blood neurofilament light concentration at admittance: a potential prognostic marker in COVID-19
AbstractObjectiveTo test the hypotheses that blood biomarkers for nervous system injury, serum concentrations of neurofilament light chain protein (NfL) and glial fibrillary acidic protein (GFAp) can serve as biomarkers for disease severity in COVID-19 patients.MethodsForty-seven inpatients with confirmed COVID-19 had blood samples drawn on admission for assessing serum biomarkers of CNS injury by Single molecule array (Simoa), NfL and GFAp. Concentrations of NfL and GFAp were analyzed in relation to symptoms, clinical signs, inflammatory biomarkers and clinical outcomes. We used multivariate linear models to test for diff...
Source: Journal of Neurology - March 20, 2021 Category: Neurology Source Type: research

Brainstem clinical and neurophysiological involvement in COVID-19
(Source: Journal of Neurology)
Source: Journal of Neurology - March 18, 2021 Category: Neurology Source Type: research

Could symptom overlap of COVID-19 and Guillain –Barré syndrome mask an epidemiological association?
(Source: Journal of Neurology)
Source: Journal of Neurology - March 17, 2021 Category: Neurology Source Type: research

Correlates of the discrepancy between objective and subjective cognitive functioning in non-demented patients with Parkinson ’s disease
AbstractBackgroundSubjective complaints of cognitive deficits are not necessarily consistent with objective evidence of cognitive impairment in Parkinson ’s disease (PD). Here we examined the factors associated with the objective-subjective cognitive discrepancy.MethodsWe consecutively enrolled 90 non-demented patients with PD who completed the Parkinson ’s Disease Cognitive Functional Rating Scale (subjective cognitive measure) and the Montreal Cognitive Assessment (MoCA; objective cognitive measure). The patients were classified as “Overestimators”, “Accurate estimators”, and “Un...
Source: Journal of Neurology - March 15, 2021 Category: Neurology Source Type: research

Neurology and vaccinations: considerations in the context of COVID-19/SARS-COV-2
(Source: Journal of Neurology)
Source: Journal of Neurology - March 15, 2021 Category: Neurology Source Type: research

Optic disc edema as a sole manifestation of anti-GQ1b antibody syndrome
(Source: Journal of Neurology)
Source: Journal of Neurology - March 14, 2021 Category: Neurology Source Type: research

Fall prediction in neurological gait disorders: differential contributions from clinical assessment, gait analysis, and daily-life mobility monitoring
AbstractObjectiveTo evaluate the predictive validity of multimodal clinical assessment outcomes and quantitative measures of in- and off-laboratory mobility for fall-risk estimation in patients with different forms of neurological gait disorders.MethodsThe occurrence, severity, and consequences of falls were prospectively assessed for 6  months in 333 patients with early stage gait disorders due to vestibular, cerebellar, hypokinetic, vascular, functional, or other neurological diseases and 63 healthy controls. At inclusion, participants completed a comprehensive multimodal clinical and functional fall-risk assessment...
Source: Journal of Neurology - March 13, 2021 Category: Neurology Source Type: research

Sympathetic and sensory nerve fiber function in multiple system atrophy and idiopathic Parkinson ’s disease
AbstractObjectiveTo explore small fiber somatosensory and sympathetic function in PD and MSA.MethodsWe recruited 20 PD patients (7 women, median age 65.5  years; IQR 54.75–70.0), 10 MSA patients (4 women; median age 68 years; IQR 66.25–74.0), and 10 healthy subjects (HC; 4 women, median age 68; IQR 59.0–71.0 years). Autonomic testing included forehead cooling, intradermal microdialysis of norepinephrine (NE; 10–5; 10–6; 10–7; and 10–8), and orthostatic hypotension (OH); somatosensory testing included quantitative sensory testing (QST) according to the protocol of the...
Source: Journal of Neurology - March 13, 2021 Category: Neurology Source Type: research

Diffusion tensor imaging analysis in three progressive supranuclear palsy variants
ConclusionIn this pilot study, patterns of white matter tract degeneration differed across PSP-RS, PSP-SL, and PSP-P, with the body of the corpus callosum showing some utility in the differentiation of PSP-SL from the other two variants. (Source: Journal of Neurology)
Source: Journal of Neurology - March 12, 2021 Category: Neurology Source Type: research

Eye movement alterations in presymptomatic C9orf72 expansion gene carriers
ConclusionInC9orf72 carriers, executive eye movement dysfunctions, especially the increased anti-saccade error rate, were associated with cognitive impairment and unrelated to time. These oculomotor impairments are in support of developmental deficits in these mutations, especially in prefrontal areas. (Source: Journal of Neurology)
Source: Journal of Neurology - March 11, 2021 Category: Neurology Source Type: research

Intravenous immunoglobulin response in new-onset refractory status epilepticus (NORSE) COVID-19 adult patients
AbstractNeurological manifestations may be common in COVID-19 patients. They may include several syndromes, such as a suggested autoimmune abnormal response, which may result in encephalitis and new-onset refractory status epilepticus (NORSE). Quickly recognizing such cases and starting the most appropriate therapy is mandatory due to the related rapid worsening and bad outcomes. This case series describes two adult patients admitted to the university hospital and positive to novel coronavirus 2019 (SARS-CoV-2) infection who developed drug-resistant status epilepticus. Both patients underwent early electroencephalography (...
Source: Journal of Neurology - March 11, 2021 Category: Neurology Source Type: research

Limbic hypoconnectivity in idiopathic REM sleep behaviour disorder with impulse control disorders
ConclusionAltered functional connectivity between the limbic striatum and posterior cortical regions was associated with increased hypersexuality in iRBD. It is possible that this change may ultimately predispose individuals to the emergence of ICDs when they receive dopaminergic medications, after transitioning to PD. (Source: Journal of Neurology)
Source: Journal of Neurology - March 11, 2021 Category: Neurology Source Type: research

Cognitive and behavioral profile of progressive supranuclear palsy and its phenotypes
ConclusionMotor deficits delineate the phenotypes included in currently accepted MDS-PSP criteria. Cognition and behavioural disturbances are common in PSP and allow us to distinguish this disorder from other neurological diseases, but they do not differentiate between PSP phenotypes. (Source: Journal of Neurology)
Source: Journal of Neurology - March 11, 2021 Category: Neurology Source Type: research

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ 10 deficiency in muscle or skin fibroblasts
AbstractCOQ4 is a component of an enzyme complex involved in the biosynthesis of coenzyme Q10 (CoQ10), a molecule with primary importance in cell metabolism. Mutations in theCOQ4 gene are responsible for mitochondrial diseases showing heterogeneous age at onset, clinical presentations and association with CoQ10 deficiency. We herein expand the phenotypic and genetic spectrum ofCOQ4-related diseases, by reporting two patients harboring bi-allelic variants but not showing CoQ10 deficiency. One patient was found to harbor compound heterozygous mutations (specifically, c.577C>T/p.Pro193Ser and the previously reported c.718C...
Source: Journal of Neurology - March 11, 2021 Category: Neurology Source Type: research

Prognostic models for amyotrophic lateral sclerosis: a systematic review
ConclusionsThis study systematically reviewed the prognostic models for ALS. Their usefulness is questionable due to several methodological pitfalls and the lack of external validation done by fully independent researchers. Future research should pay more attention to the addition of novel promising predictors, external validation, and head-to-head comparisons of existing models. (Source: Journal of Neurology)
Source: Journal of Neurology - March 10, 2021 Category: Neurology Source Type: research

Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis
(Source: Journal of Neurology)
Source: Journal of Neurology - March 9, 2021 Category: Neurology Source Type: research

Spontaneous intracranial hypotension: features, diagnosis and management
(Source: Journal of Neurology)
Source: Journal of Neurology - March 8, 2021 Category: Neurology Source Type: research

Impact of SARS-CoV-2 on reperfusion therapies for acute ischemic stroke in Lombardy, Italy: the STROKOVID network
AbstractWhether and how SARS-CoV-2 outbreak affected in-hospital acute stroke care system is still matter of debate. In the setting of the STROKOVID network, a collaborative project between the ten centers designed as hubs for the treatment of acute stroke during SARS-CoV-2 outbreak in Lombardy, Italy, we retrospectively compared clinical features and process measures of patients with confirmed infection (COVID-19) and non-infected patients (non-COVID-19) who underwent reperfusion therapies for acute ischemic stroke. Between March 8 and April 30, 2020, 296 consecutive patients [median age, 74 years (interquartile range (IQ...
Source: Journal of Neurology - March 8, 2021 Category: Neurology Source Type: research

Late-onset MS is associated with an increased rate of reaching disability milestones
ConclusionThe clinical characteristics and treatment approaches for patients with LOMS differ from their younger counterparts. Following diagnosis, patients with LOMS initially have an increased rate of reaching EDSS score 6; however, the risk of reaching EDSS score 6 at any given age is higher in patients with non-LOMS. (Source: Journal of Neurology)
Source: Journal of Neurology - March 7, 2021 Category: Neurology Source Type: research

Is postural orthostatic tachycardia syndrome (POTS) a central nervous system disorder?
AbstractPostural orthostatic tachycardia syndrome (POTS), a disorder of the autonomic nervous system characterized by a rise in heart rate of at least 30  bpm from supine to standing position, has been traditionally viewed as a dysfunction of the peripheral nervous system. However, recent studies and evidence from overlapping conditions suggest that in addition to being considered a disorder of the peripheral nervous system, POTS should be viewed al so as a central nervous system (CNS) disorder given (1) significant CNS symptom burden in patients with POTS; (2) structural and functional differences found on neuroimagi...
Source: Journal of Neurology - March 7, 2021 Category: Neurology Source Type: research

Effect of leuprorelin in  bulbar function of spinal and bulbar muscular atrophy patients: observational study for 1 year
This study aimed to investigate the effect of androgen suppression therapy using leuprorelin focused on the bulbar function of patients with spinal and bulbar muscular atrophy (SBMA).MethodsGenetically confirmed SBMA patients who consented to participate in this observational study were enrolled. Leuprorelin was subcutaneously injected every 12  weeks. Videofluoroscopic swallowing study was performed at baseline and after androgen suppression therapy for 1 year. The primary outcome measures were the changes in the vallecular residue and pyriform sinus residue. The videofluoroscopic swallowing study data were analyzed ...
Source: Journal of Neurology - March 6, 2021 Category: Neurology Source Type: research