New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy)
(Source: Neurological Sciences)
Source: Neurological Sciences - July 1, 2021 Category: Neurology Source Type: research

Increased systemic immune-inflammation index can predict respiratory failure in patients with Guillain-Barr é syndrome
ConclusionSII may be a novel independent prognostic indicator of respiratory failure in GBS patients, helping physicians identify those at risk in a timely manner. (Source: Neurological Sciences)
Source: Neurological Sciences - July 1, 2021 Category: Neurology Source Type: research

Late-onset Rasmussen encephalitis in Parry-Romberg syndrome: a case report
(Source: Neurological Sciences)
Source: Neurological Sciences - July 1, 2021 Category: Neurology Source Type: research

Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO
ConclusionThis study expands the spectrum of knownPOLG variants associated with PEO and advances current understanding regarding the structural and functional impacts of these mutations. (Source: Neurological Sciences)
Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research

Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation
ConclusionsSkin biopsy can disclose an early non-length-dependent small fiber loss in ATTRv-PN and, together with QST, could provide a useful insight disease onset and progression. (Source: Neurological Sciences)
Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research

Additional large-scale studies are needed to clarify the relationship between TNF α gene and migraine risk
(Source: Neurological Sciences)
Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research

Hyperglycemic hemichorea presenting with normal MRI and striatal hyperdensity on CT
(Source: Neurological Sciences)
Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research

A hemlock salad: a case report of super-refractory status epilepticus after accidental hemlock ingestion
(Source: Neurological Sciences)
Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research

Watch out for neuromyelitis optica spectrum disorder after inactivated virus vaccination for COVID-19
AbstractWith recent availability of COVID-19 vaccine, post-vaccination neurological complications had been occasionally reported. Here, we reported for the first time a case of neuromyelitis optica spectrum disorder (NMOSD) that developed after the first dose of inactivated virus vaccine for COVID-19. The patient developed mild fever, vomiting, diarrhea, and cough after receiving the first dose of inactivated virus vaccine. Two months later, she experienced dizziness and unsteady walking. MRI scanning of the brain revealed lesions in area postrema and bilateral hypothalamus, typical for NMOSD. Serum antibodies for AQP4, AN...
Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research

A multi-component, adaptive Working Memory Assessment Battery (WoMAB): validation and norms in an Italian population sample
This study thus aimed at the following: (a) developing and standardizing an ecologically valid task for WM assessment ( Ice Cream Test, ICT); (b) validating and norming a novel WM test (Digit Ordering Test, DOT), as well as providing updated norms for digit span (DS) tasks, in an Italian population sample; (c) introducing a novel scoring procedure for measuring WM.MethodsOne-hundred and sixty-eight Italian healthy participants —73 male, 95 females; age: 48.4 ± 19.1 (18–86); education: 12.1 ± 4.8 (4–21)—underwent a thorough WM assessment—DOT, ICT, and b...
Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research

The Frontal Assessment Battery (FAB) and its sub-scales: validation and updated normative data in an Italian population sample
This study thus aimed at (a) providing updated normative data for the Italian FAB and (b) assessing its convergent validity with the MoCA.MethodsFour-hundred and seventy-five healthy Italian native speakers (306 females, 169 males; mean age: 61.08  ± 15.1; mean education: 11.67 ± 4.57) were administered by the MoCA and the FAB. FAB items were divided into three subscales: FAB-1 (linguistically mediated EF), FAB-2 (planning), and FAB-3 (inhibition). Regression-based norms were derived (equivalent scores) for all FAB measures.ResultsAge and education were predictive of all FAB measur...
Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research

A case of “purple glove syndrome”
(Source: Neurological Sciences)
Source: Neurological Sciences - June 28, 2021 Category: Neurology Source Type: research

Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variant
(Source: Neurological Sciences)
Source: Neurological Sciences - June 26, 2021 Category: Neurology Source Type: research

Delayed onset of dystonia 18 years after a cerebellar injury
(Source: Neurological Sciences)
Source: Neurological Sciences - June 26, 2021 Category: Neurology Source Type: research

N-Pep-12 supplementation after ischemic stroke positively impacts frequency domain QEEG
AbstractBackgroundN-Pep-12 is a dietary supplement with neuroprotective and pro-cognitive effects, as shown in experimental models and clinical studies on patients after ischemic stroke. We tested the hypothesis that N-Pep-12 influences quantitative electroencephalography (QEEG) parameters in patients with subacute to chronic supratentorial ischemic lesions.MethodsWe performed secondary data analysis on an exploratory clinical trial (ISRCTN10702895), assessing the efficacy and safety of 90 days of once-daily treatment with 90 mg N-Pep-12 on neurocognitive function and neurorecovery outcome in patients with post-stroke cogn...
Source: Neurological Sciences - June 25, 2021 Category: Neurology Source Type: research

How to manage with telemedicine people with neuromuscular diseases?
ConclusionThe role of TM in neuromuscular care is yet underestimated but is crucial, beyond the pandemic era. Further development of TM is advisable, through making specific apps, remotely controlled by clinicians, and making more engaging clinicians-patients interaction. Last, it is necessary to ensure adequate internet access to everyone. (Source: Neurological Sciences)
Source: Neurological Sciences - June 25, 2021 Category: Neurology Source Type: research

Late-onset neutropenia (LON) recur in a MS patient after the second cycle of ocrelizumab: a case report
(Source: Neurological Sciences)
Source: Neurological Sciences - June 25, 2021 Category: Neurology Source Type: research

Late-onset acute disseminated encephalomyelitis followed by optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies: a biopsied case report
ConclusionThe majority of the reported ADEM-ON cases are pediatric cases with serum anti-MOG antibodies, but our patient was the elderly, without anti-MOG antibodies. Moreover, the pathological features of our case were similar to those observed in patients with typical ADEM and in patients with anti-MOG antibody-positive ADEM. Although ADEM-ON is related to the presence of anti-MOG antibodies, factors other than anti-MOG antibodies could contribute to the development of ADEM-ON. (Source: Neurological Sciences)
Source: Neurological Sciences - June 25, 2021 Category: Neurology Source Type: research

MS and COVID-19 challenge: asymptomatic COVID-19 infection during treatment with cladribine
ConclusionThese observations raise the probability that DMTs with immunosuppressive effects, such as cladribine, may be considered as a treatment option for selected MS patients with high disease activity during the COVID-19 pandemic. (Source: Neurological Sciences)
Source: Neurological Sciences - June 24, 2021 Category: Neurology Source Type: research

Numerical activities of daily living: a short version
AbstractSpecific impairments in numerical functions may cause severe problems in everyday life that cannot be inferred from the available scales evaluating instrumental activities of daily living. The Numerical Activities of Daily living (NADL) is a battery designed to assess the patient ’s performance in everyday activities involving numbers (Informal Test) and in more scholastic capacities (Formal Test). A downside of this battery is its duration (45 min). The aim of the present study is to build a shorter version of NADL to make it more suitable for clinical and research purpo ses. The shortening procedure in...
Source: Neurological Sciences - June 23, 2021 Category: Neurology Source Type: research

Biallelic ADGRV1 variants are associated with Rolandic epilepsy
ConclusionsThe results from the present study suggest that the genesADGRV1,GRIN2B, andRyR2 are associated with RE/ARE. These data link defects in neuronal intracellular calcium homeostasis to RE/ARE pathogenesis implicating that these defects plays an important role in the development of these conditions. (Source: Neurological Sciences)
Source: Neurological Sciences - June 23, 2021 Category: Neurology Source Type: research

Repeated greater occipital nerve injections with corticosteroids in medically intractable chronic cluster headache: a retrospective study
ConclusionIn this retrospective analysis, first and repeated GON-injections were well-tolerated and equally effective in MICCH as in non-MICCH, and ECH. (Source: Neurological Sciences)
Source: Neurological Sciences - June 22, 2021 Category: Neurology Source Type: research

Anti-N-methyl-d-aspartate receptor encephalitis in a patient with multiple sclerosis on dimethyl fumarate: a case report
(Source: Neurological Sciences)
Source: Neurological Sciences - June 22, 2021 Category: Neurology Source Type: research

Recurrent convulsive syncope misdiagnosed as seizures due to a diaphragmatic hernia
AbstractDifferential diagnosis of seizures and convulsive syncope may be challenging in clinical practice. Furthermore, a misleading diagnosis of epilepsy may be detrimental for the patient as it often implies an over-prescription and an over-use of antiepileptic drugs which can cause adverse reactions. Moreover, a wrong diagnosis also causes distress to the patient with the risk of performing plenty of investigations without any benefits on the symptoms.In this case, we present a 57-year-old patient suffering from recurrent convulsive syncope over the last 7  years for which he underwent several cardiological and neu...
Source: Neurological Sciences - June 21, 2021 Category: Neurology Source Type: research

Cocaine-induced Pisa syndrome
(Source: Neurological Sciences)
Source: Neurological Sciences - June 19, 2021 Category: Neurology Source Type: research

Peripapillary vascular density in resolved non-arteritic anterior ischemic optic neuropathy: colocalization between structural and vascular parameters
DiscussionWe found a precise spatial correlation among RNFL and GCC thinning, peripapillary vascular reduction and visual field defects. This case demonstrates that OCTA represents a new, valid and non-invasive imaging technique in the diagnosis and follow-up of NAION, even after the resolution of the acute phase, in the absence of clinical signs at fundus examination. (Source: Neurological Sciences)
Source: Neurological Sciences - June 18, 2021 Category: Neurology Source Type: research

Epidemiological and clinical burden associated with plexiform neurofibromas in pediatric neurofibromatosis type-1 (NF-1): a systematic literature review
ConclusionsData suggest NF-1 is a rare disease with increased morbidity and mortality in children with associated PNs. Surgical outcomes for PNs are often poor. These findings suggest significant unmet needs in patients with NF-1-associated PNs. (Source: Neurological Sciences)
Source: Neurological Sciences - June 18, 2021 Category: Neurology Source Type: research

Disease severity and response to treatment in Iranian patients with myasthenia gravis
ConclusionsThe overall outcome was favorable in the majority of patients, despite differences in the disease course and severity. In contrary to the previous reports, anti-MuSK positive patients in our series did not need a more vigorous treatment regimen comparing other serologic subtypes of MG. (Source: Neurological Sciences)
Source: Neurological Sciences - June 18, 2021 Category: Neurology Source Type: research

Headache after COVID-19 vaccination: updated report from the Italian Medicines Agency database
(Source: Neurological Sciences)
Source: Neurological Sciences - June 18, 2021 Category: Neurology Source Type: research

Task-specific dystonic tremor and the Korean traditional woodwind instrument, the Piri
(Source: Neurological Sciences)
Source: Neurological Sciences - June 18, 2021 Category: Neurology Source Type: research

Disability assessment using Google Maps
ConclusionGM ® could easily be used in a real-life clinical setting to calculate the AS and the related EDSS scores. GM® should be considered for validation in further clinical studies. (Source: Neurological Sciences)
Source: Neurological Sciences - June 17, 2021 Category: Neurology Source Type: research

The strategies for coping with stress of epilepsy patients
ConclusionEpilepsy and stress are intertwined conditions. Epilepsy patients, confronted with stress, avoided using alcohol and substances compared to healthy individuals. There were differences among epilepsy patients according to gender, marital status, febrile convulsion history, number of medications, and approaches to coping with stress. (Source: Neurological Sciences)
Source: Neurological Sciences - June 17, 2021 Category: Neurology Source Type: research

Norms and standardizations in neuropsychology via equivalent scores: software solutions and practical guides
DiscussionThe present work provides with a software solution to the calculation of TLs and ES thresholds for norming/standardizing neuropsychological tests. These software can help reduce both the subjectivity and the error rate when applying the ES method, as well as simplify and expedite its implementation. (Source: Neurological Sciences)
Source: Neurological Sciences - June 17, 2021 Category: Neurology Source Type: research

Brain death and management of the potential donor
AbstractOne of the first attempts to define brain death (BD) dates from 1963, and since then, the diagnosis criteria of that entity have evolved. In spite of the publication of practice parameters and evidence-based guidelines, BD is still causing concern and controversies in the society. The difficulties in determining brain death and making it understood by family members not only endorse futile therapies and increase health care costs, but also hinder the organ transplantation process. This review aims to give an overview about the definition of BD, causes, physiopathology, diagnosis criteria, and management of the pote...
Source: Neurological Sciences - June 17, 2021 Category: Neurology Source Type: research

Delayed presentation of postinfectious encephalitis associated with SARS-CoV-2 infection: a case report
We report a delayed presentation of COVID-19 postinfectious immune-mediated encephalitis and status epilepticus occurring in a 47-year-old woman 4  weeks after SARS-CoV-2 pulmonary disease. SARS-CoV-2-specific IgG and IgM antibodies were detected in her cerebrospinal fluid with features of encephalitis evident in both magnetic resonance imaging of the brain and electroencephalogram. She made a complete recovery following treatment with high-d ose intravenous corticosteroids and intravenous immunoglobulins. Diagnosis of COVID-19 postinfectious encephalitis may prove challenging in patients presenting many weeks fo...
Source: Neurological Sciences - June 17, 2021 Category: Neurology Source Type: research

Comparison of clinical and biological differences between patent foramen ovale subtypes in ischemic stroke
ConclusionThe constant RLS group showed a higher proportion of high-grade MES than the provoked RLS group. (Source: Neurological Sciences)
Source: Neurological Sciences - June 16, 2021 Category: Neurology Source Type: research

Predicting value of fibrinogen in identifying cerebrovascular ischemic events in patients with dizziness/vertigo
ConclusionsOur study suggested that FIB may be a useful biochemical parameter for identifying cerebral ischemic event in patients with dizziness/vertigo. (Source: Neurological Sciences)
Source: Neurological Sciences - June 15, 2021 Category: Neurology Source Type: research

Description and preliminary experience with Virtual Visit Assessment (ViVA) during the COVID-19 pandemic, a structured virtual management protocol for patients with multiple sclerosis
AbstractIn people with multiple sclerosis (PwMS), strict follow-up is essential. Telemedicine has the potential to overcome many of the difficulties in routine management. Herein, we present a structured protocol that can be used to remotely manage patients with MS, describing in detail the steps to be taken and exams needed at each stage. A working group was established which developed a tailored protocol that can be adapted to a variety of settings. The overall protocol consisted of 5 phases: enrolment, document sharing phase, pre-evaluation, virtual visit, and post-visit phase, which was divided into 14 individual steps...
Source: Neurological Sciences - June 15, 2021 Category: Neurology Source Type: research

Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document
AbstractBackgroundSyringomyelia and Chiari malformation are classified as rare diseases on Orphanet, but international guidelines on diagnostic criteria and case definition are missing. Aim of the study: to reach a consensus among international experts on controversial issues in diagnosis and treatment of Chiari 1 malformation and syringomyelia in adults.MethodsA multidisciplinary panel of the Chiari and Syringomyelia Consortium (4 neurosurgeons, 2 neurologists, 1 neuroradiologist, 1 pediatric neurologist) appointed an international Jury of experts to elaborate a consensus document. After an evidence-based review and furth...
Source: Neurological Sciences - June 15, 2021 Category: Neurology Source Type: research

Correction to: Association of dynamic susceptibility magnetic resonance imaging at initial tumor diagnosis with the prognosis of different molecular glioma subtypes
A Correction to this paper has been published:https://doi.org/10.1007/s10072-021-05352-6 (Source: Neurological Sciences)
Source: Neurological Sciences - June 15, 2021 Category: Neurology Source Type: research

Preliminary evidence of blunted humoral response to SARS-CoV-2 mRNA vaccine in multiple sclerosis patients treated with ocrelizumab
AbstractObjectivesSeveral concerns regard the immunogenicity of SARS-CoV-2 vaccines in people with multiple sclerosis (pwMS), since the majority of them is treated with immunomodulating/immunosuppressive disease modifying therapies. Here we report the first data on the humoral response to mRNA SARS-CoV-2 vaccine in a case series of 4 pwMS treated with ocrelizumab (OCR) as compared to a group of healthy subjects (HS).MethodsWe collected serum samples at 0, 14, 21 days after the first dose and 7 days after the second dose of BNT162b2-mRNA-Covid-19 vaccine from 55 health-care workers and 4 relapsing pwMS on OCR, with no histo...
Source: Neurological Sciences - June 15, 2021 Category: Neurology Source Type: research

Incremental value of Alberta Stroke Program Early CT Score to collateral score for predicting target mismatch in stroke patients with extended time window or unknown onset time
AbstractPurposeTo evaluate whether Alberta Stroke Program Early CT Score (ASPECTS) could provide incremental value to collateral score, and their integration could be an effective surrogate of CTP in predicting target mismatch.Material and methodsOne hundred and fifty-nine stroke patients (onset time 6 –16 h or with unknown onset time) with MCA and/or ICA occlusion underwent non-contrast computed tomography (NCCT) and CT perfusion (CTP) scan for initial assessment. Simulated single-phase CT angiography (sCTA, peak arterial phase) and multiphase CTA (mCTA) were reconstructed from CTP. ASPECTS wa s assessed on NCC...
Source: Neurological Sciences - June 14, 2021 Category: Neurology Source Type: research

Rehabilitative treatment in a case of aphasia as onset of multiple sclerosis
(Source: Neurological Sciences)
Source: Neurological Sciences - June 14, 2021 Category: Neurology Source Type: research

Clinical significance of self-descriptive apathy assessment in patients with neurological form of Wilson ’s disease
ConclusionsMethods relying on self-description appear inferior to informant-based scales when diagnosing apathy. More objective criteria and measurement tools are needed to better understand this clinical syndrome. (Source: Neurological Sciences)
Source: Neurological Sciences - June 14, 2021 Category: Neurology Source Type: research

ApoE4-positive multiple sclerosis patients are more likely to have cognitive impairment: a cross-sectional study
AbstractBackgroundMultiple sclerosis (MS) presents with a wide variety of symptoms, including cognitive dysfunction. Previous studies in terms of the possible function of the ApoE4 allele as a risk factor for cognitive dysfunction in MS patients were associated with conflicting results. The role of the ε4 isoform of apolipoprotein (ApoE4) was investigated in this study as a risk factor for cognitive dysfunction in MS patients.MethodsMildly disabled relapsing –remitting MS (RRMS) patients were involved in this study. The neurocognitive assessment is conducted by the Minimal Assessment of Cognitive Function in ...
Source: Neurological Sciences - June 12, 2021 Category: Neurology Source Type: research

Could COVID-19 be a trigger for manic attack in an adolescent?
(Source: Neurological Sciences)
Source: Neurological Sciences - June 10, 2021 Category: Neurology Source Type: research

Quantifying activities of daily living impairment in Parkinson ’s disease using the Functional Activities Questionnaire
ConclusionOur data argue that self-reported ADL impairments assessed by the FAQ show a relation to the severity of cognitive impairment in PD. (Source: Neurological Sciences)
Source: Neurological Sciences - June 10, 2021 Category: Neurology Source Type: research

Autoimmune encephalitis associated with anti-LGI1 antibody and Sj ögren’s syndrome: a case report
(Source: Neurological Sciences)
Source: Neurological Sciences - June 10, 2021 Category: Neurology Source Type: research

Internet addiction, headache, and insomnia in university students: a cross-sectional study
AbstractObjectiveThere is controversy about whether there is an association between headache and internet addiction. Therefore, the objective was to assess whether there is an association between the headache, insomnia, and internet addiction.MethodsThis was a cross-sectional study with 420 university students. We used a semi-structured questionnaire, Headache Impact Test, Hospital Anxiety Depression Scale, Insomnia Severity Index, and Internet Addiction Test.Results51.4% were men, the median age was 21 (19, 23), 399 (95.0%) suffered from headaches in the last year, 265 (63.1%) had migraine, 182 (43.3%) had migraine with a...
Source: Neurological Sciences - June 9, 2021 Category: Neurology Source Type: research

Characteristics of cerebral ischemic stroke based on moyamoya disease and atherosclerosis-associated intracranial arterial stenosis
AbstractPurposeTo analyze the characteristics of acute ischemic stroke (AIS) resulting from moyamoya disease (MMD) and intracranial large artery atherosclerotic stenosis (LAS).MethodThis real-world case control study enrolled imaging-confirmed AIS patients owing to MMD or LAS hospitalized from January 2015 through September 2020 consecutively. The features of risk factors, peripheral blood, and imaging presentations were compared between the two cohorts.ResultsA total of 191 eligible patients entered into final analysis, including 70 cases with MMD stroke and 121 with LAS stroke. LAS stroke vs. MMD stroke, the ratios of hy...
Source: Neurological Sciences - June 9, 2021 Category: Neurology Source Type: research