Diagnosis of depression in multiple sclerosis is predicted by frontal –parietal white matter tract disruption
ConclusionBaseline CFPN disruption is associated with progression to clinical depression over 5  years in PwMS. Development of new WM pathology within this network may be a risk factor for depression. (Source: Journal of Neurology)
Source: Journal of Neurology - August 4, 2020 Category: Neurology Source Type: research

Gluten neuropathy: electrophysiological progression and HLA associations
AbstractObjectiveGluten neuropathy (GN) is the term used to describe peripheral neuropathy that occurs in patients with gluten sensitivity (GS) or coeliac disease (CD) in the absence of other risk factors. We aimed to describe the neurophysiological progression rate of GN across time and look into the potential role of genetic susceptibility in its development.MethodsThis is a cohort study of 45 patients with GN with a mean follow-up period of 8  ± 5 years. The assessments included clinical and neurophysiological data and HLA-DQ genotyping.ResultsThe mean age at diagnosis was 60  ±&t...
Source: Journal of Neurology - August 4, 2020 Category: Neurology Source Type: research

Changes in the EEG spectral power during dual-task walking with aging and Parkinson ’s disease: initial findings using Event-Related Spectral Perturbation analysis
AbstractBackgroundThe ability to maintain adequate motor-cognitive performance under increasing task demands depends on the regulation and coordination of neural resources. Studies have shown that such resources diminish with aging and disease. EEG spectral analysis is a method that has the potential to provide insight into neural alterations affecting motor-cognitive performance. The aim of this study was to assess changes in spectral analysis during dual-task walking in aging and diseaseMethods10 young adults, ten older adults, and ten patients with Parkinson ’s disease (PD) completed an auditory oddball task while...
Source: Journal of Neurology - August 4, 2020 Category: Neurology Source Type: research

Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers
AbstractBackgroundDiagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers.MethodsPatients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was meas...
Source: Journal of Neurology - August 4, 2020 Category: Neurology Source Type: research

Neurological comorbidity and severity of COVID-19
ConclusionNeurological comorbidities represent a significant determinant of COVID-19 severity, deserving a thorough evaluation since the earliest phases of infection. The vulnerability of patients affected by neurological diseases should suggest a greater attention in targeting this population for proactive viral screening. (Source: Journal of Neurology)
Source: Journal of Neurology - August 4, 2020 Category: Neurology Source Type: research

Early discrimination of cognitive motor dissociation from disorders of consciousness: pitfalls and clues
AbstractBedside assessment of consciousness and awareness after a severe brain injury might be hampered by confounding clinical factors (i.e., pitfalls) interfering with the production of behavioral or motor responses to external stimuli. Despite the use of validated clinical scales, a high misdiagnosis rate is indeed observed. We retrospectively analyzed a cohort of 49 patients with severe brain injury admitted to an acute neuro-rehabilitation program. Patients ’ behavior was assessed using the Motor Behavior Tool and Coma Recovery Scale Revised. All patients underwent systematic assessment for pitfalls including po...
Source: Journal of Neurology - August 4, 2020 Category: Neurology Source Type: research

Reply to & quot;Guillain ‑Barré syndrome in the COVID‑19 era another occasional cluster? & quot;: Insights from two distinct clusters of Guillain –Barré syndrome detected in Europe in the COVID-19 era
(Source: Journal of Neurology)
Source: Journal of Neurology - August 4, 2020 Category: Neurology Source Type: research

Role of aquaporins in hydrocephalus: what do we know and where do we stand? A systematic review
ConclusionAQP seem to play a central role in the pathophysiology of hydrocephalus and in its compensation mechanisms. Further studies are required to definitively establish their precise roles and their quantitative changes to allow their utilization as diagnostic tools or therapeutic targets. (Source: Journal of Neurology)
Source: Journal of Neurology - August 3, 2020 Category: Neurology Source Type: research

Impaired naming performance in temporal lobe epilepsy: language fMRI responses are modulated by disease characteristics
ConclusionsWhile frontal lobe language regions appear spared, temporal lobe language areas are susceptible to dysfunction and reorganisation, particularly in left TLE. Early onset and long duration of epilepsy, and high seizure frequency, were associated with compromised activation and deactivation patterns of task-associated regions, which might account for impaired naming performance in individuals with TLE. (Source: Journal of Neurology)
Source: Journal of Neurology - August 3, 2020 Category: Neurology Source Type: research

Pioneers in neurology: Abraham Myerson (1881 –1948)
(Source: Journal of Neurology)
Source: Journal of Neurology - August 1, 2020 Category: Neurology Source Type: research

Causality in COVID-19-associated stroke: a uniform case definition for use in clinical research
(Source: Journal of Neurology)
Source: Journal of Neurology - August 1, 2020 Category: Neurology Source Type: research

Is Parkinson ’s disease a chronic low-grade inflammatory bowel disease?
AbstractWhile the pathogenesis of Parkinson ’s disease is not fully understood, there is increasing evidence that inflammatory responses in the brain are implicated in both disease initiation and progression. The inflammatory process in Parkinson’s disease is, however, not limited to the brain but also involves the gastrointestinal tract. High amounts of cytokines and inflammatory markers are found in the colon of Parkinson’s disease patients and there is now strong epidemiological and genetical evidence linking Parkinson’s disease to inflammatory bowel diseases. Recent findings obtained in both exp...
Source: Journal of Neurology - July 14, 2020 Category: Neurology Source Type: research

Correction to: Intracerebral haemorrhage on the acute stroke unit
The article Intracerebral haemorrhage on the acute stroke unit (Source: Journal of Neurology)
Source: Journal of Neurology - July 14, 2020 Category: Neurology Source Type: research

Significant reduction of physical activity in patients with neuromuscular disease during COVID-19 pandemic: the long-term consequences of quarantine
ConclusionOur study confirmed that COVID-19 quarantine has affected the practice of PA among both NMD and healthy controls. (Source: Journal of Neurology)
Source: Journal of Neurology - July 13, 2020 Category: Neurology Source Type: research

Development and validation of a classification algorithm to diagnose and differentiate spontaneous episodic vertigo syndromes: results from the DizzyReg patient registry
ConclusionThe correct diagnosis of spontaneous episodic vestibular syndromes is challenging in clinical practice. Modern machine learning methods might be the basis for developing systems that assist practitioners and clinicians in their daily treatment decisions. (Source: Journal of Neurology)
Source: Journal of Neurology - July 13, 2020 Category: Neurology Source Type: research

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
ConclusionsThe presentation of our patients raises the possibility that hypertrophic cardiomyopathy may be an additional feature of the clinical syndrome associated withUCHL1 mutations, and highlights the importance of cardiac follow-up and treatment in neurodegenerative disease associated withUCHL1 mutations. (Source: Journal of Neurology)
Source: Journal of Neurology - July 12, 2020 Category: Neurology Source Type: research

Impact of COVID-19 lockdown on sleep quality in university students and administration staff
ConclusionThe impact of lockdown was greater in students than in workers, and in females than in males. Concerning the psycho-emotional aspects, about one-third of our sample showed depressive or anxious symptoms. The results of our study may provide support for the implementation of some interventions for well-being in pandemic condition. (Source: Journal of Neurology)
Source: Journal of Neurology - July 11, 2020 Category: Neurology Source Type: research

Repetitive transcranial magnetic stimulation as an alternative therapy for stroke with spasticity: a systematic review and meta-analysis
AbstractRepetitive transcranial magnetic stimulation (rTMS) and intermittent theta-burst stimulation (iTBS) can be used to manage post-stroke spasticity, but a meta-analysis of the recent randomized-controlled trials (RCTs) is lacking. Our aim is to perform a meta-analysis of the RCTs that investigated the efficacy of rTMS in patients with post-stroke spasticity. PubMed, Embase, and Cochrane Library databases were searched for eligible papers published up to February 2020. The primary outcome was the Modified Ashworth Scale (MAS), measured as the effect of rTMS compared with controls and after rTMS (using a change score ca...
Source: Journal of Neurology - July 11, 2020 Category: Neurology Source Type: research

The DizzyQuest: to have or not to have … a vertigo attack?
ConclusionEvent sampling using an attack questionnaire has low recall bias and, therefore, reliably captures the nature of the attack, but induces a risk of under-sampling. Time sampling using an evening questionnaire suffers from recall bias, but seems more likely to capture less discrete vertigo attacks and it facilitates registration of the absence of vertigo attacks. Depending on the clinical or research question, the right strategy should be applied and participants should be clearly instructed about the definition of a vertigo attack. (Source: Journal of Neurology)
Source: Journal of Neurology - July 11, 2020 Category: Neurology Source Type: research

Telling friend from foe in emergency vertigo and dizziness: does season and daytime of presentation help in the differential diagnosis?
The objective of the present study was to analyze frequency and distribution patterns of specific vestibular and non-vestibular diagnoses in an interdisciplinary university emergency room (ER), including data on daytime and season of presentation. A retrospective chart analysis of all patients seen in a one-year period was performed. In the ER 4.23% of all patients presented with VD (818 out of 19,345). The most frequent-specific diagnoses were BPPV (19.9%), stroke/transient ischemic attack (12.5%), acute unilateral vestibulopathy/vestibular neuritis (UVH; 8.3%), and functional VD (8.3%). Irrespective of the diagnosis, the...
Source: Journal of Neurology - July 11, 2020 Category: Neurology Source Type: research

Control of SARS-CoV-2 infection in rituximab-treated neuroimmunological patients
(Source: Journal of Neurology)
Source: Journal of Neurology - July 11, 2020 Category: Neurology Source Type: research

Frontal encephalopathy related to hyperinflammation in COVID-19
(Source: Journal of Neurology)
Source: Journal of Neurology - July 11, 2020 Category: Neurology Source Type: research

Early functional MRI changes in a prodromal semantic variant of primary progressive aphasia: a longitudinal case report
ConclusionsThis case report showed longitudinal fMRI patterns during semantic-related tasks from prodromal to overt svPPA. Frontal brain recruitment may represent a compensatory mechanism in patients with early svPPA, which is likely to be reinforced by language-therapy. Brain fMRI is more sensitive compared with structural MRI to detect progressive brain changes associated with disease and treatment. (Source: Journal of Neurology)
Source: Journal of Neurology - July 10, 2020 Category: Neurology Source Type: research

Risk incidence of fractures and injuries: a multicenter video-EEG study of 626 generalized convulsive seizures
ConclusionsGCSs are associated with a substantial risk of fractures and shoulder dislocations that are not associated with falls. GCSs accompanied by audible cracking, and resulting in back pain, should prompt clinical and imaging evaluations. (Source: Journal of Neurology)
Source: Journal of Neurology - July 10, 2020 Category: Neurology Source Type: research

Telemedicine for neuromuscular disorders during the COVID-19 outbreak
(Source: Journal of Neurology)
Source: Journal of Neurology - July 10, 2020 Category: Neurology Source Type: research

Correction to: Diagnostic accuracy of a smartphone bedside test to assess the fixation suppression of the vestibulo ‑ocular reflex: when nothing else matters
The article Diagnostic accuracy of a smartphone bedside test to assess the fixation suppression of the vestibulo ‑ocular reflex: when nothing else matters, written by Florin Gandor, Manfred Tesch, Hannelore Neuhauser, Doreen Gruber, Hans‑Jochen Heinze, Georg Ebersbach and Thomas Lempert, was originally published electronically on the publisher’s internet portal on 01 June 2020 without open access (Source: Journal of Neurology)
Source: Journal of Neurology - July 10, 2020 Category: Neurology Source Type: research

Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series
We present the clinical short- and long-term effects of pallidal deep brain stimulation (DBS) in three patients with a confirmed pathogenic ADCY5 mutation. Patients were implanted with bilateral pallidal DBS at the age of 34, 20 and 13  years. Medical records were reviewed for clinical history. Pre- and postoperative video files were assessed using the “Abnormal Involuntary Movement Scale” (AIMS) as well as the motor part of the “Burke Fahn Marsden Dystonia Rating Scale” (BFMDRS). All patients reported subjective general improvement ranging from 40 to 60%, especially the reduction of nocturnal ...
Source: Journal of Neurology - July 9, 2020 Category: Neurology Source Type: research

Neuromyelitis optica and myotonic dystrophy type 2: a rare association with diagnostic implications
(Source: Journal of Neurology)
Source: Journal of Neurology - July 9, 2020 Category: Neurology Source Type: research

Association of neuronal injury blood marker neurofilament light chain with mild-to-moderate COVID-19
(Source: Journal of Neurology)
Source: Journal of Neurology - July 9, 2020 Category: Neurology Source Type: research

Disease progression but not physical state per se determines mental wellbeing in ALS
ConclusionsThere is evidence for subsamples in ALS with regard to mental wellbeing, which are mainly determined by clinical parameters. Those subjects being reported in the literature to present with high mental wellbeing are often long survivors. High progression rate and low physical function when attending the clinic for the first time should be red flags and need special attention in clinical counseling. (Source: Journal of Neurology)
Source: Journal of Neurology - July 8, 2020 Category: Neurology Source Type: research

Clinical and radiological differences between patients with probable cerebral amyloid angiopathy and mixed cerebral microbleeds
ConclusionsCAA and mixed CMB demonstrate radiological differences in the absence of macrohaemorrhages. However, more clinically available biomarkers are needed to elucidate the contribution of CAA and hypertensive angiopathy in mixed CMB patients. (Source: Journal of Neurology)
Source: Journal of Neurology - July 8, 2020 Category: Neurology Source Type: research

Yield of the PMP22 deletion analysis in patients with compression neuropathies
AbstractIntroductionHereditary neuropathy with liability to pressure palsies (HNPP) is a rare neuromuscular disorder, mostly caused byPMP22 deletion.AimTo determine a yield of the genetic analysis ofPMP22 gene deletion in patients with compression neuropathies.MethodWe included 112 patients with clinical suspicion of HNPP diagnosis. Nerve conduction studies (NCS) were performed for motor and sensory nerves bilaterally. Number of thePMP22 gene copies was determined using a real-time polymerase chain reaction (RT-PCR).ResultsPMP22 deletion was found in 34 (30.3%) patients. Patients with genetically confirmed HNPP had 12 year...
Source: Journal of Neurology - July 8, 2020 Category: Neurology Source Type: research

Urinary neopterin, a new marker of the neuroinflammatory status in amyotrophic lateral sclerosis
AbstractObjectiveTo comprehensively assess whether neopterin in urine could be a candidate biomarker for determining the neuroinflammatory status in ALS.MethodsWe performed an observational, cross-sectional study in 81 pALS, 68 age- and sex-comparable healthy controls (HC), 14 patients affected by MS and 24 OND patients. ALS patients underwent a neurological evaluation to assess the global functional status evaluated by Amyotrophic Lateral Sclerosis Functional Rating Scale —Revised (ALSFRS-R) and the disease progression rate. Urinary neopterin concentrations were determined by high-performance liquid chromatography m...
Source: Journal of Neurology - July 8, 2020 Category: Neurology Source Type: research

Comment on: “Structural correlates of attention dysfunction in Lewy body dementia and Alzheimer’s disease: an ex-Gaussian analysis”
(Source: Journal of Neurology)
Source: Journal of Neurology - July 8, 2020 Category: Neurology Source Type: research

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE
AbstractAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia (FTD) are in part of a single disease continuum. Genetic causes have been identified in sporadic (SALS) and familial patients (FALS) and the recurrent genetic factor underlying ALS and FTD is theC9orf72 hexanucleotide repeat expansion (HRE). However, in our population, the concomitance of ALS and FTD cannot be explained byC9orf72 HRE in many FALS and SALS cases. Our aim is to ...
Source: Journal of Neurology - July 7, 2020 Category: Neurology Source Type: research

Impact of COVID-19 on U.S. and Canadian neurologists ’ therapeutic approach to multiple sclerosis: a survey of knowledge, attitudes, and practices
ConclusionsReported prescribing changes and practice disruptions due to COVID-19 may be temporary but could have a lasting influence on MS care. (Source: Journal of Neurology)
Source: Journal of Neurology - July 7, 2020 Category: Neurology Source Type: research

Neurological update: neuroimaging in dementia
AbstractNeuroimaging for dementia has made remarkable progress in recent years, shedding light on diagnostic subtypes of dementia, predicting prognosis and monitoring pathology. This review covers some updates in the understanding of dementia using structural imaging, positron emission tomography (PET), structural and functional connectivity, and using big data and artificial intelligence. Progress with neuroimaging methods allows neuropathology to be examined in vivo, providing a suite of biomarkers for understanding neurodegeneration and for application in clinical trials. In addition, we highlight quantitative susceptib...
Source: Journal of Neurology - July 7, 2020 Category: Neurology Source Type: research

Biomarkers in the diagnosis and prognosis of Alzheimer ’s disease
(Source: Journal of Neurology)
Source: Journal of Neurology - July 7, 2020 Category: Neurology Source Type: research

COVID-19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia
(Source: Journal of Neurology)
Source: Journal of Neurology - July 7, 2020 Category: Neurology Source Type: research

Mild COVID-19 infection in an NMO patient treated with tocilizumab: a confirmation of anti-IL-6 protective role?
(Source: Journal of Neurology)
Source: Journal of Neurology - July 7, 2020 Category: Neurology Source Type: research

Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype
AbstractVariants in thePNPLA6 gene are known to cause 4 distinct phenotypes. One known phenotype is Hereditary Spastic Paraplegia type 39 (HSP 39), a rare neurodegenerative condition characterized by variable onset of lower limb spasticity, weakness and ataxia. Little is known about complications of HSP 39 in adulthood. Here, we report a family of three siblings who presented with bilateral lower limb spasticity in childhood, consistent with HSP, with confirmed bi-allellicPNPLA6 mutations. Two siblings developed parkinsonian features in middle age, a novel finding in this sibship. The proband had a positive dopamine transp...
Source: Journal of Neurology - July 4, 2020 Category: Neurology Source Type: research

Cell-based assays for the detection of MOG antibodies: a comparative study
ConclusionsLCBA-IgG1 showed the highest specificity but can miss MOG-IgG2 reactivities, whose meaning warrants further investigations. Titration of samples tested with LCBA-IgGH+L/ IgGFc γ is important for meaningful interpretation of the results. In the subgroup analysis, LCBA-IgGFc γ yielded the highest accuracy, and FCBA-IgGFc γ good specificity, but it was at risk of false-negative results. (Source: Journal of Neurology)
Source: Journal of Neurology - July 4, 2020 Category: Neurology Source Type: research

Treatment of MOG antibody associated disorders: results of an international survey
ConclusionCurrent treatment of MOGAD is highly variable, indicating a need for consensus-based treatment guidelines, while awaiting definitive clinical trials. (Source: Journal of Neurology)
Source: Journal of Neurology - July 4, 2020 Category: Neurology Source Type: research

Neurogenic calf amyotrophy with CK elevation by entrapment radiculopathy; clinical, radiological, and pathological analyses of 18 cases
ConclusionWe established the clinical characteristics of NCACKEER. Evaluations of serum CK level and skeletal muscle CT imaging are useful for screening, and lumbar spinal MRI, EMG and/or muscle biopsy are necessary for diagnostic confirmation. (Source: Journal of Neurology)
Source: Journal of Neurology - July 3, 2020 Category: Neurology Source Type: research

Reduced accuracy of MRI deep grey matter segmentation in multiple sclerosis: an evaluation of four automated methods against manual reference segmentations in a multi-center cohort
ConclusionsAutomated methods have impaired performance in patients. Performance generally deteriorated with higher lesion volume and lower NBV and ROIV, suggesting that these may contribute to the impaired performance. (Source: Journal of Neurology)
Source: Journal of Neurology - July 3, 2020 Category: Neurology Source Type: research

Cognitive impairment in benign multiple sclerosis: a multiparametric structural and functional MRI study
ConclusionsCognitive impairment in BMS is associated with structural damage of relevant brain areas. WM damage of parietal regions was the predominant predictor of worse cognitive performance in these patients. (Source: Journal of Neurology)
Source: Journal of Neurology - July 2, 2020 Category: Neurology Source Type: research

Discontinuation of disease-modifying treatments for multiple sclerosis in patients aged over 50 with disease Inactivity
AbstractBackgroundTreatments may become redundant in older patients with multiple sclerosis (MS). Our aim was to explore whether stopping treatments might be possible in patients aged over 50 with disease inactivity.MethodsPatients over 50 were included from the population-based MS Lorraine registry if they had a relapsing –remitting course at onset and had experienced no relapse for ≥ 3 years. Patients who stopped treatments were defined as “stoppers”, and the others as “stayers”. The outcomes were the time to first relapse, to first disability progression, and to the oc...
Source: Journal of Neurology - July 2, 2020 Category: Neurology Source Type: research

Apomorphine formulation may influence subcutaneous complications from continuous subcutaneous apomorphine infusion in Parkinson ’s disease
AbstractContinuous subcutaneous (s.c.) apomorphine infusion is an effective therapy for Parkinson ’s disease (PD), but a limitation is the formation of troublesome s.c. nodules. Various chemically non-identical apomorphine formulations are available. Anecdotal experiences have suggested that shifting from one of these (Apo-Go PumpFill®; apoGPF) to another (Apomorphine PharmSwed®; apoPS) may influence the occurrence and severity of s.c. nodules. We, therefore, followed 15 people with advanced PD (median PD-duration, 15  years; median “off”-phase Hoehn and Yahr, IV) on apoGPF and with troubleso...
Source: Journal of Neurology - July 1, 2020 Category: Neurology Source Type: research

Long-term efficacy of immunoglobulins in small fiber neuropathy related to Sj ögren’s syndrome
We present our experience related to the p ersistent improvement of Ig in a case series of SFPN in Sjogren’s syndrome and relevant data in the literature regarding the benefits of immunoglobulins, for this indication. (Source: Journal of Neurology)
Source: Journal of Neurology - July 1, 2020 Category: Neurology Source Type: research

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
The objective of our study was to evaluate practical utility and feasibility of large-scale PSB screening for NP-C in sel ected adult patients. Patients were prospectively enrolled if they showed, starting from 12 years of age, at least one of the three initial neuro-psychiatric manifestations described in NP-C: (1) gait disorder (cerebellar and/or dystonic); (2) cognitive decline with frontal lobe syndrome; (3) atypi cal psychosis. PSBs were measured in plasma of all patients and, if positive (LSM-509 and/or C-triol + 7-KC elevated), sequencing ofNPC1 andNPC2 genes was performed. A total of 251 patients...
Source: Journal of Neurology - June 26, 2020 Category: Neurology Source Type: research