Gaetano Rummo (1853 –1917)
(Source: Journal of Neurology)
Source: Journal of Neurology - November 12, 2019 Category: Neurology Source Type: research

Letter to the editors: comment on “Dissociation of caloric and head impulse tests: a marker of Meniere’s disease”
(Source: Journal of Neurology)
Source: Journal of Neurology - November 12, 2019 Category: Neurology Source Type: research

Survival in treated idiopathic normal pressure hydrocephalus
AbstractObjectiveTo describe survival and causes of death in 979 treated iNPH patients from the Swedish Hydrocephalus Quality Registry (SHQR), and to examine the influence of comorbidities, symptom severity and postoperative outcome.MethodsAll 979 patients operated for iNPH 2004 –2011 and registered in the SHQR were included. A matched control group of 4890 persons from the general population was selected by Statistics Sweden. Data from the Swedish Cause of Death Registry was obtained for patients and controls.ResultsAt a median 5.9 (IQR 4.2 –8.1) year follow-up, 37% of the iNPH patients and 23% of the controls...
Source: Journal of Neurology - November 10, 2019 Category: Neurology Source Type: research

Developing a smartphone application, triaxial accelerometer-based, to quantify static and dynamic balance deficits in patients with cerebellar ataxias
ConclusionsWe can state that the APP is an easy, reliable, and valid evaluating system to quantify the trunk sway in a static position and during the gait. (Source: Journal of Neurology)
Source: Journal of Neurology - November 10, 2019 Category: Neurology Source Type: research

Detailed phenotyping of posterior vs. anterior circulation ischemic stroke: a multi-center MRI study
AbstractObjectivePosterior circulation ischemic stroke (PCiS) constitutes 20 –30% of ischemic stroke cases. Detailed information about differences between PCiS and anterior circulation ischemic stroke (ACiS) remains scarce. Such information might guide clinical decision making and prevention strategies. We studied risk factors and ischemic stroke subtypes in PCiS vs. ACiS and lesion location on magnetic resonance imaging (MRI) in PCiS.MethodsOut of 3,301 MRIs from 12 sites in the National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network (SiGN), we included 2,381 cases with acute DWI lesi...
Source: Journal of Neurology - November 10, 2019 Category: Neurology Source Type: research

Prognostic utility of serum 25-hydroxyvitamin D in patients with stroke: a meta-analysis
ConclusionsLower serum 25-hydroxyvitamin D level is significantly associated with poorer prognosis in stroke patients. Future prospective studies are warranted to verify the prognostic role and to examine the association in different subtypes of stroke. (Source: Journal of Neurology)
Source: Journal of Neurology - November 7, 2019 Category: Neurology Source Type: research

White matter burden does not influence the outcome of mechanical thrombectomy
AbstractBackground and purposeThe significance of white matter hyperintensities (WMHs) in the setting of mechanical thrombectomy (MT) remains poorly documented. We assessed whether pre-existing WMHs burden was associated with baseline clinical and imaging factors and neurological outcome in patients undergoing MT.MethodsThis retrospective single-center study included consecutive acute ischemic stroke (AIS) patients with stroke due to large vessel occlusion treated with MT. WMHs were assessed on baseline T2 fluid-attenuated inversion recovery magnetic resonance imaging. Neurological outcome was assessed at day 90 by the mod...
Source: Journal of Neurology - November 7, 2019 Category: Neurology Source Type: research

Striking loss of second language in bilingual patients with semantic dementia
DiscussionA striking contrast in performance between two languages in bilingual patients with SD indicates that a bilingual ’s L2 or less proficient language is more vulnerable to neurodegeneration. Our findings also support a common semantic network in the brain for the different languages of bilinguals. (Source: Journal of Neurology)
Source: Journal of Neurology - November 7, 2019 Category: Neurology Source Type: research

Prognostic factor of poor outcome in anti-MAG neuropathy: clinical and electrophysiological analysis of a French Cohort
ConclusionEven though disability seems to progress in most cases despite the treatments used, our results suggest that an early electrophysiological reduction in sensory nerves could be considered a ‘red flag’ for the prompt initiation of rituximab to try to delay long-term disability. (Source: Journal of Neurology)
Source: Journal of Neurology - November 7, 2019 Category: Neurology Source Type: research

Early MRI predictors of prognosis in multiple sclerosis
(Source: Journal of Neurology)
Source: Journal of Neurology - November 7, 2019 Category: Neurology Source Type: research

Cerebrospinal fluid non-phosphorylated tau in the differential diagnosis of Creutzfeldt –Jakob disease: a comparative prospective study with 14-3-3
AbstractCerebrospinal fluid (CSF) non-phosphorylated tau (non-p-tau) is increased in sporadic Creutzfeldt –Jakob disease (CJD), but its accuracy in the differential diagnosis has not been previously established. Here, we first used a retrospective cohort of non-CJD (n = 135) and CJD (n = 137) cases to determine the optimal cutoff point for the discrimination of CJD cases. Next, we prospectively quantified non-p-tau and 14-3-3 protein in a cohort of 1427 cases received for CSF testing at the German National Reference Center for transmissible spongiform encephalopathies. Among them, 36 were ...
Source: Journal of Neurology - November 6, 2019 Category: Neurology Source Type: research

Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature
ConclusionsThese results show the importance of expressing quality of life in a conceptually appropriate way, as failing to take account of the multidimensional nature of QoL can result in important nuances being overlooked. Clinicians must be aware that pain, depression and anxiety all worsen QoL across their ranges, and not just when pain is severe or when anxiety or depression reach case level. (Source: Journal of Neurology)
Source: Journal of Neurology - November 6, 2019 Category: Neurology Source Type: research

Neurological manifestations in adults with phenylketonuria: new cases and review of the literature
ConclusionNeurological manifestations can complicate PKU in adult patients with elevated phenylalanine levels, after long or short period of diet discontinuation. Neurologists should be aware of this diagnosis, and measure phenylalaninemia in case of neurological symptoms associated with non-specific leucopathy on brain MRI. PKU patients should be systematically encouraged to continue their diet and their medical follow-up to avoid neurological complications. (Source: Journal of Neurology)
Source: Journal of Neurology - November 6, 2019 Category: Neurology Source Type: research

Symptomatic carotid near-occlusion causes a high risk of recurrent ipsilateral ischemic stroke
ConclusionsSymptomatic carotid near-occlusion has a high short-term risk of recurrent ipsilateral ischemic stroke, especially near-occlusion with full collapse. (Source: Journal of Neurology)
Source: Journal of Neurology - November 6, 2019 Category: Neurology Source Type: research

Do heterozygous mutations of Niemann –Pick type C predispose to late-onset neurodegeneration: a review of the literature
Discussion/conclusionThis finding has wider implications in so far as NPC-related forms of Parkinsonian syndromes, dementia, motor neuron disease and other neurodegenerative disorders may benefit from NPC-mechanistic therapies, in particular related to lysosomal dysfunction. Further research is warranted to generate systematic data of heterozygous mutation carriers, including longitudinal data. (Source: Journal of Neurology)
Source: Journal of Neurology - November 6, 2019 Category: Neurology Source Type: research

Susac ’s syndrome as an immune-related adverse event after pembrolizumab: a case report
(Source: Journal of Neurology)
Source: Journal of Neurology - November 6, 2019 Category: Neurology Source Type: research

Risk of Parkinson ’s disease after colectomy: longitudinal follow-up study using a national sample cohort
ConclusionsColectomy was associated with the development of PD, suggesting that colon issues play an important role in the pathophysiological mechanisms of PD. (Source: Journal of Neurology)
Source: Journal of Neurology - November 4, 2019 Category: Neurology Source Type: research

Silent brain infarctions and cognition decline: systematic review and meta-analysis
AbstractBackgroundSilent brain infarction (SBI) may be associated with cognitive decline in the general population. We systematically reviewed prior literature on: (1) SBI and cognition cross-sectionally; (2) baseline SBI and future cognitive decline and risk for cognitive disorders including dementia, and (3) incident SBI and the emergence of cognitive decline or cognitive disorders.MethodsThe MEDLINE and EMBASE databases were searched for relevant studies. Data were independently extracted by two reviewers. Quality was assessed using the Newcastle Ottawa Scale. Data were pooled using a random effects model when more than...
Source: Journal of Neurology - November 4, 2019 Category: Neurology Source Type: research

Eighty years of Medication-Overuse Headache: what about Medication-Overuse Backpain?
ConclusionsConsidering our results, the described withdrawal method seems to be a simple and safe method to achieve pain reduction while simultaneously preventing organ damage. Despite the preliminary character of our results, our hypothesis might stimulate a new understanding of CLBP ’s pathophysiology. (Source: Journal of Neurology)
Source: Journal of Neurology - November 3, 2019 Category: Neurology Source Type: research

Alternating monocular adducting saccadic pulses and dissociated adducting nystagmus during lateral gazes in spinocerebellar ataxia type 3
(Source: Journal of Neurology)
Source: Journal of Neurology - November 3, 2019 Category: Neurology Source Type: research

Cardiorespiratory fitness as a quantitative predictor of the risk of stroke: a dose –response meta-analysis
ConclusionThis meta-analysis provides the evidence that better CRF was with a lower risk of stroke incidence. (Source: Journal of Neurology)
Source: Journal of Neurology - November 3, 2019 Category: Neurology Source Type: research

Teleneurology clinics for polyneuropathy: a pilot study
ConclusionIn this pilot, we were able to efficiently see and examine patients remotely, promote guideline-concordant PN care, and provide a high-satisfaction encounter. (Source: Journal of Neurology)
Source: Journal of Neurology - November 2, 2019 Category: Neurology Source Type: research

Machine-learning-derived rules set excludes risk of Parkinson ’s disease in patients with olfactory or gustatory symptoms with high accuracy
ConclusionsApplying machine-learning techniques, a classifier was developed that took the shape of a set of six hierarchical rules with binary decisions about olfaction-related features or a familial burden of Parkinson ’s disease. Its main clinical strength lies in the exclusion of the possibility of developing Parkinson’s disease in a patient with olfactory or gustatory loss. (Source: Journal of Neurology)
Source: Journal of Neurology - October 31, 2019 Category: Neurology Source Type: research

Self-management practices associated with quality of life for adults with epilepsy
AbstractEpilepsy self-management practices enhance a patient ’s competence and confidence in managing their chronic condition, which is assumed to lead to an improved quality of life (QoL). We analyzed the relationship between the Epilepsy Self-Management Scale (ESMS) responses and the Quality of Life in Epilepsy (QOLIE-31) scores. Baseline questionnaires f rom HOBSCOTCH, a self-management program for cognitive problems, were administered in four New England epilepsy centers on adults (n = 100) with epilepsy and subjective memory complaints. There was no correlation between overall self-management score...
Source: Journal of Neurology - October 21, 2019 Category: Neurology Source Type: research

Amyloid- β and Parkinson’s disease
AbstractParkinson ’s disease (PD) is the second commonest neurodegenerative disorder in the world with a rising prevalence. The pathophysiology is multifactorial but aggregation of misfolded α-synuclein is considered to be a key underpinning mechanism. Amyloid-β (Aβ) and tau deposition are also comorbid associat ions and especially Aβ deposition is associated with cognitive decline in PD. Some existing evidence suggests that low cerebrospinal fluid (CSF) Aβ42 is predictive of future cognitive impairment in PD. Recent studies also show that CSF A β is associated with the postural instabi...
Source: Journal of Neurology - October 21, 2019 Category: Neurology Source Type: research

Zona incerta deep-brain stimulation in orthostatic tremor: efficacy and mechanism of improvement
ConclusionsBilateral caudal zona incerta deep-brain stimulation is effective in refractory orthostatic tremor. Two independent central oscillations were found at tremor and double tremor frequency. Zona incerta DBS produces improvement in OT patients possibly by modifying the abnormal oscillatory proprioceptive input from leg muscles. Frequent changes in deep-brain stimulation settings were required for maintaining the clinical benefit. (Source: Journal of Neurology)
Source: Journal of Neurology - October 21, 2019 Category: Neurology Source Type: research

Motor and non-motor symptoms in blepharospasm: clinical and pathophysiological implications
ConclusionsNon-motor symptoms are independent of motor features and likely belong to the clinical spectrum of blepharospasm. The presence of non-motor symptoms possibly reflects a complex network disorder of blepharospasm. (Source: Journal of Neurology)
Source: Journal of Neurology - October 21, 2019 Category: Neurology Source Type: research

Development and validation of the Heidelberg Neurological Triage System (HEINTS)
ConclusionsHEINTS predicted hospital admissions and resource utilization. Agreement between nurses and physicians was moderate. HEINTS, applied by physicians and by nurses after training, reliably detected neurological emergencies. (Source: Journal of Neurology)
Source: Journal of Neurology - October 21, 2019 Category: Neurology Source Type: research

Imaging respiratory muscle quality and function in Duchenne muscular dystrophy
The objective of this study was to assess respiratory muscle quality and function in DMD using magnetic resonance imaging and to determine the relationship to clinical respiratory function.MethodsIndividuals with DMD (n = 36) and unaffected controls (n = 12) participated in this cross sectional magnetic resonance imaging study. Participants underwent dynamic imaging of the thorax to assess diaphragm and chest wall mobility and chemical shift-encoded imaging of the chest and abdomen to determine fatty infiltration of the accessory respiratory muscles. Additionally, clinical pulmonary function mea...
Source: Journal of Neurology - October 21, 2019 Category: Neurology Source Type: research

Aperiodic alternating nystagmus in isolated vestibular nucleus infarction
(Source: Journal of Neurology)
Source: Journal of Neurology - October 21, 2019 Category: Neurology Source Type: research

Legionella infection associated with dimethyl fumarate used for treatment of multiple sclerosis
(Source: Journal of Neurology)
Source: Journal of Neurology - October 21, 2019 Category: Neurology Source Type: research

Treatment of blepharospasm and Meige ’s syndrome with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice
ConclusionThe treatment of blepharospasm and Meige ’s syndrome with onabotulinumtoxinA and abobotulinumtoxinA is safe and effective, also over a long observation period of up to 29 years. (Source: Journal of Neurology)
Source: Journal of Neurology - October 18, 2019 Category: Neurology Source Type: research

Daratumumab treatment for therapy-refractory anti-CASPR2 encephalitis
In conclusion, our findings suggest that daratumumab induces not only depletion of autoreactive long-lived plasma cells associated with improvements of neurological sequelae, but also severe side effects requiring clinical studies investigating efficacy and safety of anti-CD38 therapy in a ntibody-driven autoimmune encephalitis. (Source: Journal of Neurology)
Source: Journal of Neurology - October 18, 2019 Category: Neurology Source Type: research

Evolution of impulsive –compulsive behaviors and cognition in Parkinson’s disease
AbstractThe longitudinal course of ICBs in patients with Parkinson ’s disease (PwP) relative to controls has not been explored as of yet. The aim of this study is to determine the frequency, evolution and associated cognitive and clinical features of impulsive and compulsive behaviors (ICBs) over 4 years of prospective follow-up in a population-based cohort with early Parkinson’s disease (PD). We recruited 124 cognitively intact participants with early PD and 156 matched controls from the Norwegian ParkWest study. ICBs were assessed using the self-report short form version of the Questionnaire for Impulsiv...
Source: Journal of Neurology - October 17, 2019 Category: Neurology Source Type: research

Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease
AbstractBackgroundClinical phenotypic heterogeneity represents a major barrier to trials in motor neuron disease (MND) and objective surrogate outcome measures are required, especially for slowly progressive patients. We assessed responsiveness of clinical, electrophysiological and radiological muscle-based assessments to detect MND-related progression.Materials and methodsA prospective, longitudinal cohort study of 29 MND patients and 22 healthy controls was performed. Clinical measures, electrophysiological motor unit number index/size (MUNIX/MUSIX) and relative T2- and diffusion-weighted whole-body muscle magnetic reson...
Source: Journal of Neurology - October 16, 2019 Category: Neurology Source Type: research

Correction to: Role of complement and potential of complement inhibitors in myasthenia gravis and neuromyelitis optica spectrum disorders: a brief review
The original version of this article unfortunately contained a mistake. Fifth sentence of the fourth paragraph in the section “Non-nAChR autoantibody targets in MG” should read as (Source: Journal of Neurology)
Source: Journal of Neurology - October 16, 2019 Category: Neurology Source Type: research

Risks associated with oral deferiprone in the treatment of infratentorial superficial siderosis
ConclusionsDeferiprone was poorly tolerated, with 40% of patients withdrawing from treatment, most commonly due to neutropenic sepsis, after an average of 2  years on treatment. This study increases the number of reported cases of agranulocytosis in patients with iSS treated with deferiprone. Clinicians treating iSS patients with deferiprone should be aware that this drug has a potentially life-threatening side effect of neutropenic sepsis, and shou ld ensure that appropriate haematological monitoring is in place. (Source: Journal of Neurology)
Source: Journal of Neurology - October 15, 2019 Category: Neurology Source Type: research

Use of anticoagulant therapy and cerebral microbleeds: a systematic review and meta-analysis
ConclusionAnticoagulant use is associated with higher prevalence and incidence of CMBs. This association appears to depend on location of CMBs and type of anticoagulants. More longitudinal investigations with adjustment for confounders are required to establish the causality. (Source: Journal of Neurology)
Source: Journal of Neurology - October 14, 2019 Category: Neurology Source Type: research

Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy
ConclusionsEven in a limited number of patients, qNMRI could detect a significant change over a 1-year period in GNE myopathy, which suggests that qNMRI could constitute a surrogate endpoint in this slowly progressive disease. Quantitative NMRI outcome measures can monitor intramuscular fat accumulation with high responsiveness. Longer follow-up should improve our understanding of GNE myopathy evolution and also lead to the identification of non-invasive outcome measures with the highest discriminant power for upcoming clinical trials. (Source: Journal of Neurology)
Source: Journal of Neurology - October 14, 2019 Category: Neurology Source Type: research

Apathy as a behavioural marker of cognitive impairment in Parkinson ’s disease: a longitudinal analysis
ConclusionHigh levels of apathy are predictive of negative cognitive and behavioural outcomes over time, suggesting that apathy may be a behavioural indicator of early cognitive decline. This has clinical and prognostic implications. (Source: Journal of Neurology)
Source: Journal of Neurology - October 14, 2019 Category: Neurology Source Type: research

New and enlarging white matter lesions adjacent to the ventricle system and thalamic atrophy are independently associated with lateral ventricular enlargement in multiple sclerosis
AbstractObjectiveTo investigate the association between new or enlarging T2-weighted (w) white matter (WM) lesions adjacent to the ventricle wall, deep grey matter (DGM) atrophy and lateral ventricular enlargement in multiple sclerosis (MS).MethodsPatients derived from the Genetic Multiple Sclerosis Associations study. Lateral ventricles and DGM were segmented fully automated at baseline and 5 years follow-up using Automatic Lateral Ventricle delineation (ALVIN) and Multiple Automatically Generated Templates brain segmentation algorithm (MAgeT), respectively. T2w and T1w lesions were manually segmented. To investigate the ...
Source: Journal of Neurology - October 13, 2019 Category: Neurology Source Type: research

ATP8A2 -related disorders as recessive cerebellar ataxia
AbstractATP8A2-related disorders are autosomal recessive conditions that associate encephalopathy with or without hypotonia, psychomotor delay, abnormal movements, chorea, tremor, optic atrophy and cerebellar atrophy (CARMQ4). Through a multi-centric collaboration, we identified six point mutations (one splice site and five missense mutations) involvingATP8A2 in six individuals from five families. Two patients from one family with the homozygous p.Gly585Val mutation had a milder presentation without encephalopathy. Expression and functional studies of the missense mutations demonstrated that protein levels of four of the f...
Source: Journal of Neurology - October 13, 2019 Category: Neurology Source Type: research

Compression of both vertebral arteries during neck extension: a new type of vertebral artery compression syndrome
(Source: Journal of Neurology)
Source: Journal of Neurology - October 13, 2019 Category: Neurology Source Type: research

Relationship between ‘on-treatment platelet reactivity’, shear stress, and micro-embolic signals in asymptomatic and symptomatic carotid stenosis
AbstractBackgroundAssessment of ‘high on-treatment platelet reactivity (HTPR)’ could enhance understanding of the pathophysiology of first or recurrent vascular events in carotid stenosis patients on antiplatelet therapy.MethodsThis prospective, multi-centre study assessed antiplatelet –HTPR status and its relationship with micro-emboli signals (MES) in asymptomatic vs. symptomatic ≥ 50–99% carotid stenosis. Platelet function/reactivity was assessed under ‘moderately high shear stress’ with the PFA-100® and ‘low shear stress’ with VerifyNow® and Multi...
Source: Journal of Neurology - October 11, 2019 Category: Neurology Source Type: research

Increased neural connectivity between the hypothalamus and cortical resting-state functional networks in chronic migraine
ConclusionThese data provide evidence for hypothalamic involvement in large-scale reorganisation at the functional-network level in CM and in proportion with the perceived severity of the migraine pain. (Source: Journal of Neurology)
Source: Journal of Neurology - October 11, 2019 Category: Neurology Source Type: research

Cluster headache: an overview of established and emerging treatments
(Source: Journal of Neurology)
Source: Journal of Neurology - October 9, 2019 Category: Neurology Source Type: research

Correction to: How satisfied are cervical dystonia patients after 3  years of botulinum toxin type A treatment? Results from a prospective, long-term observational study
The article How satisfied are cervical dystonia patients after 3  years of botulinum toxin type A treatment? (Source: Journal of Neurology)
Source: Journal of Neurology - October 8, 2019 Category: Neurology Source Type: research

Serum neurofilament light chain is a discriminative biomarker between frontotemporal lobar degeneration and primary psychiatric disorders
In this study, we evaluated the potential of serum NfL (sNfL) as a diagnostic tool between FTLD and PPD. We analyzed sNfL levels with Simoa from 125 participants including patients from FTLD (n = 91) and PPD (n = 34) spectra. Our results show that sNfL levels are higher in the FTLD group compared to the PPD group as well as in separate clinical subtypes of FTLD compared to different psychiatric manifestations (i.e., mood or psychotic disorders). At single-subject level, discrimination between FTLD and PPD was possible with 80% sensitivity and 85% specificity (AUC = 0.850, 95% CI 0....
Source: Journal of Neurology - October 7, 2019 Category: Neurology Source Type: research

Olfactory and gustatory functioning and food preferences of patients with Alzheimer ’s disease and mild cognitive impairment compared to controls: the NUDAD project
In conclusion, patients with MCI and AD have poorer odor discrimination and identi fication ability than controls, but similar detection thresholds. This is likely a consequence of poorer memory rather than directly caused by AD pathology. (Source: Journal of Neurology)
Source: Journal of Neurology - October 7, 2019 Category: Neurology Source Type: research

Factors influencing patient satisfaction with the first diagnostic consultation in multiple sclerosis: a Swiss Multiple Sclerosis Registry (SMSR) study
ConclusionsA conversation of more than 20  min covering many MS relevant topics, a clear communication of the diagnosis, the presence of a close relative or significant other, as well as shared decision making enhanced patient satisfaction with the FDC. ClinicalTrials.gov Identifier: NCT02980640 (Source: Journal of Neurology)
Source: Journal of Neurology - October 7, 2019 Category: Neurology Source Type: research