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 9, 2020 Category: Neurology Source Type: research

Telemedicine for neuromuscular disorders during the COVID-19 outbreak
(Source: Journal of Neurology)
Source: Journal of Neurology - July 9, 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 9, 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 8, 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 8, 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 8, 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 7, 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 7, 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 7, 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 7, 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 7, 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 6, 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 6, 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 6, 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 6, 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 6, 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 6, 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 3, 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 3, 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 3, 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 2, 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 2, 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 1, 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 1, 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 - June 30, 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 - June 30, 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 25, 2020 Category: Neurology Source Type: research

What is the efficacy of gentamicin on the incidence of vertigo attacks and hearing in patients with Meniere's disease compared with steroids? A meta-analysis
AbstractObjectiveTo compare the efficacy of gentamicin and steroids in patients with Meniere's disease (MD).MethodsThe study protocol was structured in accordance with the Population, Intervention, Comparison and Outcome (PICO) framework. We used “Endnote” (Thomson ResearchSoft; Stanford, Connecticut, the United States) to retrieve database documents. A systematic literature search of Web of Science and PubMed Database through May 2020 was conducted using specific search terms. Inclusion criteria, exclusion criteria, vertigo improvement, and exact hearing changes were defined. Review Manager 5.3 (Cochrane) was ...
Source: Journal of Neurology - June 24, 2020 Category: Neurology Source Type: research

Relationship between stroke etiology and collateral status in anterior circulation large vessel occlusion
ConclusionsPreexisting CAS  ≥ 50% was associated with better collateral status in LVO stroke patients. However, functional 90-day outcome was independent from CAS, which could be related to a higher rate of adverse events. (Source: Journal of Neurology)
Source: Journal of Neurology - June 24, 2020 Category: Neurology Source Type: research

Acute inflammatory demyelinating polyneuritis in association with an asymptomatic infection by SARS-CoV-2
(Source: Journal of Neurology)
Source: Journal of Neurology - June 24, 2020 Category: Neurology Source Type: research

COVID ‐19 in dimethyl fumarate‐treated patients with multiple sclerosis
(Source: Journal of Neurology)
Source: Journal of Neurology - June 24, 2020 Category: Neurology Source Type: research

Balance and coordination training for patients with genetic degenerative ataxia: a systematic review
ConclusionsBalance and coordination training, especially the conventional physical/occupational therapy, is able to improve the balance and coordinative function of patients with genetic degenerative ataxia, but more high-quality studies are needed to formulate recommendations for clinical practice. (Source: Journal of Neurology)
Source: Journal of Neurology - June 23, 2020 Category: Neurology Source Type: research

Use of diffusion-weighted imaging to distinguish seizure-related change from limbic encephalitis
AbstractObjectiveTo determine whether diffusion-weighted imaging (DWI) can help differentiate peri-ictal signal abnormality from limbic encephalitis (LE) among patients with medial temporal lobe T2-hyperintensity.MethodsWe retrospectively identified patients with peri-ictal medial temporal lobe T2-hyperintensity using a Mayo Clinic database, and reviewed their DWI to look for unique diffusion restriction patterns. We then identified patients with medial temporal lobe T2-hyperintensity and LE, and reviewed their DWI to see if these patterns were ever present. Presence of diffusion restriction patterns was confirmed by a bli...
Source: Journal of Neurology - June 23, 2020 Category: Neurology Source Type: research

Systematic literature review of burden of illness in chronic inflammatory demyelinating polyneuropathy (CIDP)
ConclusionsThis first systematic review of CIDP burden of illness demonstrates the high physical and psychosocial burden of this rare disease. Future research is required to fully characterise the burden of CIDP, and to understand how appropriate treatment can mitigate burden for patients and healthcare systems. (Source: Journal of Neurology)
Source: Journal of Neurology - June 23, 2020 Category: Neurology Source Type: research

Characteristics and clinical course of Covid-19 patients admitted with acute stroke
(Source: Journal of Neurology)
Source: Journal of Neurology - June 23, 2020 Category: Neurology Source Type: research

Long-term efficacy and safety of alemtuzumab in patients with RRMS: 12-year follow-up of CAMMS223
ConclusionsAlemtuzumab efficacy was maintained over 12  years in CAMMS223 patients, with 73% receiving no more than three courses. The safety profile in this cohort was consistent with other alemtuzumab clinical trials. (Source: Journal of Neurology)
Source: Journal of Neurology - June 23, 2020 Category: Neurology Source Type: research

Reversible Encephalopathy Syndrome (PRES) in a COVID-19 patient
AbstractRecently WHO has declared novel coronavirus disease 2019 (COVID-19) outbreak a pandemic. Acute respiratory syndrome seems to be the most common manifestation of COVID-19. Besides pneumonia, it has been demonstrated that SARS-CoV-2 infection affects multiple organs, including brain tissues, causing different neurological manifestations, especially acute cerebrovascular disease (ischemic and hemorrhagic stroke), impaired consciousness and skeletal muscle injury. To our knowledge, among neurological disorders associated with SARS-CoV2 infection, no Posterior Reversible Encephalopathy Syndrome (PRES) has been described...
Source: Journal of Neurology - June 23, 2020 Category: Neurology Source Type: research

Early cognitive and emotional outcome after stroke is independent of discharge destination
AbstractBackground and purposeCognitive and emotional problems occur frequently after stroke. Patients with minor stroke are more likely to be discharged home. This paper compares early cognitive and emotional outcomes in patients discharged home after stroke versus patients discharged to inpatient rehabilitation, and examines the effect of cognitive and emotional outcomes on long-term participation.MethodsIn this multicenter prospective cohort study, patients with stroke were assessed at two  months with the Hospital Anxiety and Depression Scale (HADS), the Checklist for Cognitive and Emotional Consequences following...
Source: Journal of Neurology - June 23, 2020 Category: Neurology Source Type: research

Olfactory testing does not predict β-amyloid, MRI measures of neurodegeneration or vascular pathology in the British 1946 birth cohort
Conclusion and relevanceIn the early 70s, olfactory function is not a reliable predictor of a range of imaging and cognitive measures of preclinical AD. Olfactory identification deficits are not likely to be a useful means of identifying asymptomatic amyloidosis. Further studies are required to assess if change in olfaction may be a proximity marker for the development of cognitive impairment. (Source: Journal of Neurology)
Source: Journal of Neurology - June 23, 2020 Category: Neurology Source Type: research

Using patient-reported symptoms of dyspnea for screening reduced respiratory function in patients with motor neuron diseases
ConclusionThe diagnostic performance of the MND-DS was better than the respiratory domain of the ALSFRS-R for screening reduced respiratory function in patients with MND, and is, therefore, the preferred method for (remotely) monitoring respiratory function. (Source: Journal of Neurology)
Source: Journal of Neurology - June 22, 2020 Category: Neurology Source Type: research

“Myo-neuropathy” is commonly associated with mitochondrial tRNA Lysine mutation
AbstractThe mitochondrial tRNALys (mt-tRNALys) mutation is initially associated with myoclonic epilepsy and ragged-red fibers (MERRF). The clinical, laboratory, morphologic and molecular findings from 22 mt-tRNALys mutation carriers from local database in East China were analyzed retrospectively. We identified 13 symptomatic and 9 asymptomatic individuals with a known pathogenic mitochondrial tRNALys mutation. The most common mutations were m.8344 A>G (81.8%), m.8363G>A (9.1%), m.8356 T>C (4.5%) and m.8356 T>G (4.5%). The degree of mutation heteroplasmy in blood was high both in symptomatic (mean 64.5%, range 4...
Source: Journal of Neurology - June 22, 2020 Category: Neurology Source Type: research

Physical activity as a risk factor for amyotrophic lateral sclerosis-findings from three large European cohorts
(Source: Journal of Neurology)
Source: Journal of Neurology - June 22, 2020 Category: Neurology Source Type: research

Guillain –Barré syndrome in the COVID-19 era: another occasional cluster?
(Source: Journal of Neurology)
Source: Journal of Neurology - June 22, 2020 Category: Neurology Source Type: research

Late-onset post-lesional paroxysmal hypothermia: a case series and literature review
AbstractBackgroundParoxysmal hypothermia (PH) is a rare condition characterized by recurrent episodes of spontaneous hypothermia, bradycardia, disorders of consciousness and, in some cases, hyperhidrosis. When associated with a detectable hypothalamic lesion, PH episodes usually occur shortly after the brain insult.MethodsWe performed a retrospective study to identify patients who had demonstrated at least one episode of symptomatic spontaneous PH as defined by (i) tympanic temperature  
Source: Journal of Neurology - June 21, 2020 Category: Neurology Source Type: research

Features of intracranial hemorrhage in cerebral venous thrombosis
ConclusionThe high rate of intracranial hemorrhage in cerebral venous thrombosis is not explained by widespread involvement of the venous sinuses. Superior sagittal sinus involvement is associated with higher bleeding risk. (Source: Journal of Neurology)
Source: Journal of Neurology - June 21, 2020 Category: Neurology Source Type: research

Clinico-radiological dissociation of disease activity in MS patients: frequency and clinical relevance
ConclusionsA clinico-radiological dissociation is rather a rare phenomenon in MS patients. The clinical relevance of such a dissociation regarding the prediction of disability progression is questionable. (Source: Journal of Neurology)
Source: Journal of Neurology - June 19, 2020 Category: Neurology Source Type: research

Midlife alcohol consumption and longitudinal brain atrophy: the PREVENT-Dementia study
ConclusionsWe did not find any evidence of influence of alcohol consumption on changes in brain volume over a 2-year period in 40 –60-year-olds. (Source: Journal of Neurology)
Source: Journal of Neurology - June 19, 2020 Category: Neurology Source Type: research

First case of SARS-COV-2 sequencing in cerebrospinal fluid of a patient with suspected demyelinating disease
This report suggests a possible association of SARS-COV-2 infection with neurological symptoms of demyelinating disease, even in the absence of relevant upper respiratory tract infection signs. (Source: Journal of Neurology)
Source: Journal of Neurology - June 19, 2020 Category: Neurology Source Type: research

Neurological involvement of coronavirus disease 2019: a systematic review
ConclusionsNeurological manifestations of COVID-19 are not rare, especially large vessel stroke, Guillain –Barre syndrome, and meningoencephalitis. Moving forward, further studies are needed to clarify the prevalence of the neurological complications of SARS-CoV-2 infection, investigate their biological backgrounds, and test treatment options. Physicians should be cautious not to overlook other neurol ogical diagnoses that can mimic COVID-19 during the pandemic. (Source: Journal of Neurology)
Source: Journal of Neurology - June 18, 2020 Category: Neurology Source Type: research

Investigation of poststroke epilepsy (INPOSE) study: a multicenter prospective study for prediction of poststroke epilepsy
ConclusionsPoststroke epilepsy occurs in almost 6% of patients within 3  years after stroke onset. Hemorrhagic stroke and subcortical lesion appear to be significantly associated with likelihood of developing epilepsy. Thus, prophylactic administration of antiepileptic drugs could be useful for stroke patients with these two risk factors. (Source: Journal of Neurology)
Source: Journal of Neurology - June 18, 2020 Category: Neurology Source Type: research