Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day
(Source: Neurological Sciences)
Source: Neurological Sciences - February 15, 2020 Category: Neurology Source Type: research

Contrast sensitivity impairment in drug-na ïve Parkinson’s disease patients associates with early cognitive decline
ConclusionContrast sensitivity impairment in drug-na ïve PD patients associates with clinical demand for therapeutic intervention of cognitive decline as well as development of visual hallucinations in the early course of the disease. (Source: Neurological Sciences)
Source: Neurological Sciences - February 15, 2020 Category: Neurology Source Type: research

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family
In this study, we investigated a Chinese family with an autosomal dominant form of GEFS+. DNA sequencing of the whole coding region revealed a novel heterozygous nucleotide substitution (c.5873A>G) causing a missense mutation (p.Y1958C). This mutation was predicted to be deleterious by three different bioinformatics programs (The polyphen2, SIFT, and MutationTaster). Our finding reports a novel likely pathogenicSCN9A Y1958C heterozygous mutation in a Chinese family with GEFS+ and provides additional supports thatSCN9A variants may be associated with human epilepsies. (Source: Neurological Sciences)
Source: Neurological Sciences - February 15, 2020 Category: Neurology Source Type: research

The effect of greater occipital nerve blockade on the quality of life, disability and comorbid depression, anxiety, and sleep disturbance in patients with chronic migraine
In this study, it was aimed to demonstrate the change in quality of life, depression, anxiety, and sleep disturbance scores before and after treatment in CM patients who underwent GONB and the effectiveness of treatment.Patients and methodsThe study included 84 patients diagnosed as CM according to the International Classification of Headache Disorders III beta version diagnostic criteria. The 24-Hour Migraine Quality of Life Questionnaire (MQoLQ), Migraine Disability Assessment Scale (MIDAS), Beck Anxiety Inventory (BAI), Beck Depression Inventory (BDI), Pittsburgh Sleep Quality Index (PSQI), Headache Impact Test (HIT), a...
Source: Neurological Sciences - February 13, 2020 Category: Neurology Source Type: research

Low TSH level predicts a poor clinical outcome in patients with anterior circulation ischemic stroke after endovascular thrombectomy
ConclusionA lower TSH value upon admission may predict an unfavorable functional outcome in AIS patients after EVT, but thyroid hormone levels have no bearing on the risk of HT. (Source: Neurological Sciences)
Source: Neurological Sciences - February 13, 2020 Category: Neurology Source Type: research

The assessment of severe lexical disorders in Italian individuals with aphasia
AbstractTests and batteries used in the evaluation of language impairments are overly complex and often ineffective (too difficult) in the assessment of post-stroke patients affected by severe aphasia (global aphasia). The present study reports details on the construction and standardization of a new Italian battery of tasks, specifically designed to assess severe lexical disorders in acquired aphasia (Battery for the Assessment of Severe Acquired Lexical Damage in Italian, BASALDI). The battery is composed of a common set of 64 stimuli (concrete nouns), belonging to both living and non-living categories, and consists of f...
Source: Neurological Sciences - February 12, 2020 Category: Neurology Source Type: research

Research on cognitive and sociocognitive functions in patients with brain tumours: a bibliometric analysis and visualization of the scientific landscape
ConclusionThe bibliometric analysis highlights the necessity of more research on social cognition in brain tumour patients. (Source: Neurological Sciences)
Source: Neurological Sciences - February 12, 2020 Category: Neurology Source Type: research

Chronic migraine long-term regular treatment with onabotulinumtoxinA: a retrospective real-life observational study up to 4  years of therapy
AbstractIntroductionOnabotulinumtoxinA (BoNT-A) was proved effective and safe in chronic migraine (CM) prevention by the Phase III Research Evaluating Migraine Prophylaxis (PREEMPT) and Phase IV Chronic migraine OnabotulinuMtoxinA Prolonged Efficacy open-Label (COMPEL) trials over 1 and 2  years of treatment, respectively. Real-life studies highlighted BoNT-A sustained benefits up to 3 years of administration. Aim of this retrospective real-life study was observing within a 4-year timeframe the progress of a consecutive series of CM patients treated with BoNT-A and evaluating wheth er long-term quarterly treatmen...
Source: Neurological Sciences - February 12, 2020 Category: Neurology Source Type: research

Painful Kiloh-Nevin plus syndrome after Cimino-Shunt
(Source: Neurological Sciences)
Source: Neurological Sciences - February 11, 2020 Category: Neurology Source Type: research

Impact of brain atrophy on tDCS and HD-tDCS current flow: a modeling study in three variants of primary progressive aphasia
ConclusionLimited to the conditions and assumptions considered here, this argues against a specific need to adjust the tDCS montage for these patients any more than might be considered useful in anatomically typical adults. Therefore, local atrophy does not, in isolation, reliably predict local electric field. Rather, our results are consistent with holistic head anatomy influencing brain current flow, with tDCS producing diffuse and individualized brain current flow patterns and HD-tDCS producing targeted brain current flow across individuals. (Source: Neurological Sciences)
Source: Neurological Sciences - February 10, 2020 Category: Neurology Source Type: research

Seizures as the first clinical manifestation of acute pulmonary embolism: an underestimate issue in neurocritical care
ConclusionsThe relationship between seizures and acute PE is probably underrecognized. Identifying patients that have a high probability of acute PE is fundamental to avoid any treatment delay and ameliorate their outcomes. (Source: Neurological Sciences)
Source: Neurological Sciences - February 10, 2020 Category: Neurology Source Type: research

Highlights of the issue 3, 2020
(Source: Neurological Sciences)
Source: Neurological Sciences - February 8, 2020 Category: Neurology Source Type: research

Dysphasia is associated with diffusion-weighted MRI abnormalities in patients with transient neurological symptoms
ConclusionWe found that DWI lesions were detected in 29.5% of patients with transient neurological symptoms and were associated with dysphasia. Dawson score and DOT score could have a higher predictability of DWI lesions in patients with transient neurological symptoms. (Source: Neurological Sciences)
Source: Neurological Sciences - February 7, 2020 Category: Neurology Source Type: research

Are attentional instruction and feedback type affect on learning of postural and supra-postural tasks?
AbstractOptimum postural control and balance is dependent on the individual, the environment, and the task limitations. Thus, the present study investigated the effect of attentional instruction and feedback type on postural and supra-postural tasks. The 96 participants aged 11 –19 years with attention deficit hyperactivity disorder (ADHD) were randomly assigned to one of the eight groups such as attentional instruction (internal and external), feedback (external and internal), and task (postural and supra-postural). Following a pre-test, the participants underwent four training sessions. Each session included 2...
Source: Neurological Sciences - February 7, 2020 Category: Neurology Source Type: research

Neuromuscular diseases rehabilitation in the era of gene therapy
(Source: Neurological Sciences)
Source: Neurological Sciences - February 7, 2020 Category: Neurology Source Type: research

Selection of treatment for ictal asystole patients based on EEG and ECG with temporary cardiac pacing
(Source: Neurological Sciences)
Source: Neurological Sciences - February 7, 2020 Category: Neurology Source Type: research

Association of orthostatic hypotension with Parkinson ’s disease: a meta-analysis
ConclusionIn the present meta-analysis, the pooled OR of OH with PD was 4.343 (95% CI 3.323 –5.676) with a low heterogeneity, which showed a significant association between OH and increased risk of PD. (Source: Neurological Sciences)
Source: Neurological Sciences - February 6, 2020 Category: Neurology Source Type: research

Individual identification for different age groups using functional connectivity strength
ConclusionThis study successfully distinguishes the young group, middle-aged group, and elderly group through FCS parameter, indicating the functional pattern of the network exists difference between three groups. Moreover, the results received by the SVM-RFE method and SVM classifier have the very good robustness and not specific to particular atlas and not affected by global signal and appropriate for the FCS of the whole brain or intra-hemisphere, which suggests that we can apply them to disease diagnosis in the future. (Source: Neurological Sciences)
Source: Neurological Sciences - February 1, 2020 Category: Neurology Source Type: research

Compound heterozygous mutations in PUS3 gene identified in a Chinese infant with severe epileptic encephalopathy and multiple malformations
(Source: Neurological Sciences)
Source: Neurological Sciences - February 1, 2020 Category: Neurology Source Type: research

Room tilt illusion and persistent hiccups as presenting symptoms of a left PICA stroke: a case report
(Source: Neurological Sciences)
Source: Neurological Sciences - February 1, 2020 Category: Neurology Source Type: research

The hidden information in patient-reported outcomes and clinician-assessed outcomes: multiple sclerosis as a proof of concept of a machine learning approach
AbstractMachine learning (ML) applied to patient-reported (PROs) and clinical-assessed outcomes (CAOs) could favour a more predictive and personalized medicine. Our aim was to confirm the important role of applying ML to PROs and CAOs of people with relapsing-remitting (RR) and secondary progressive (SP) form of multiple sclerosis (MS), to promptly identifying information useful to predict disease progression. For our analysis, a dataset of 3398 evaluations from 810 persons with MS (PwMS) was adopted. Three steps were provided: course classification; extraction of the most relevant predictors at the next time point; predic...
Source: Neurological Sciences - February 1, 2020 Category: Neurology Source Type: research

Cerebral peri-lead edema following deep brain stimulation surgery
(Source: Neurological Sciences)
Source: Neurological Sciences - February 1, 2020 Category: Neurology Source Type: research

A case of growing dural sinus malformation with associated developmental venous anomaly presenting like transient ischemic attack progressing into stroke
(Source: Neurological Sciences)
Source: Neurological Sciences - February 1, 2020 Category: Neurology Source Type: research

Late component of trigemino-cervical reflex: changes according to age and gender
ConclusionThere are age- and gender-related changes in TCRs probably due to changes in the motoneurons of the SC and SCM muscles. (Source: Neurological Sciences)
Source: Neurological Sciences - January 31, 2020 Category: Neurology Source Type: research

The differential effect of normal and pathological aging on egocentric and allocentric spatial memory in navigational and reaching space
ConclusionFamiliarity of spatial memory traces can represent a protective factor for retrospective components of TD in normal aging. Conversely, using newly learned information for assessment may lead to overestimating TD severity. (Source: Neurological Sciences)
Source: Neurological Sciences - January 30, 2020 Category: Neurology Source Type: research

The role of clivus length and cranial base flexion angle in basilar invagination and Chiari malformation pathophysiology
ConclusionData suggest that clivus length and basal angle may play a role in pathophysiology of BI and CM. (Source: Neurological Sciences)
Source: Neurological Sciences - January 30, 2020 Category: Neurology Source Type: research

Pallidal dementia with underlying sleep apnea syndrome: a case report and literature review
(Source: Neurological Sciences)
Source: Neurological Sciences - January 30, 2020 Category: Neurology Source Type: research

Induced hemichorea by cloperastine overuse
(Source: Neurological Sciences)
Source: Neurological Sciences - January 29, 2020 Category: Neurology Source Type: research

Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich ’s ataxia
ConclusionThe 12-RSACT is an inexpensive test and is easy to use, which can be administered quickly. Therefore, 12-RSACT is a promising tool to assess the upper limb ataxia in FRDA patients and even those with severe diseases. (Source: Neurological Sciences)
Source: Neurological Sciences - January 28, 2020 Category: Neurology Source Type: research

Clinical pathways of epileptic seizures and status epilepticus: results from a survey in Italy
SummaryObjectivePatients with seizures or status epilepticus (SE) access the hospital through emergency departments and may be admitted into different wards according to the level of care required. Clinicians with different expertise are in charge of taking critical therapeutic decisions. To date, very few studies have investigated the stage at which these patients are referred to neurologists or epileptologists and how guideline recommendations are applied in clinical practice.MethodsA survey was used to investigate how patients with epileptic seizures or SE are managed in emergency and in subsequent hospital pathways in ...
Source: Neurological Sciences - January 28, 2020 Category: Neurology Source Type: research

Long-term survival of a sacro-coccygeal myxopapillary ependymoma with extra-neural metastases: case report and review of the literature
(Source: Neurological Sciences)
Source: Neurological Sciences - January 28, 2020 Category: Neurology Source Type: research

Management of dysphagia in Huntington ’s disease: a descriptive review
AbstractHuntington ’s disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by involuntary choreatic movements, cognitive, behavioral, and psychiatric disturbances. Most HD suffer from dysphagia and aspiration pneumonia is the leading cause of death. However, little is known a bout dysphagia management in HD. A revision of the literature was conducted to depict the state of the art on the assessment and treatment of dysphagia in HD. Literature search of the last 10 years was performed using PubMed and EMBASE. Twenty-four studies were included: 16 cross-sectional studies, 2...
Source: Neurological Sciences - January 27, 2020 Category: Neurology Source Type: research

Awareness of rare and genetic neurological diseases among italian neurologist. A national survey
AbstractRare neurological diseases (RNDs) are a heterogeneous group of disorders mainly affecting the central and peripheral nervous systems, representing almost 50% of all rare diseases; this explains why neurologists are very often involved in their diagnosis, treatment and research. The purpose of this study was to quantitatively describe the awareness of RNDs among the neurological community of the Italian Society of Neurology (SIN). A survey of the Italian Neurogenetics and Rare diseases group of the SIN, similar to what was submitted to the members of the EAN Task Force on Rare Neurologic Diseases and to EAN Panels S...
Source: Neurological Sciences - January 27, 2020 Category: Neurology Source Type: research

Correction to: A case of verbal and emotional prosody processing dissociation after a right temporal venous infarct
The above article was published online with missing authors. (Source: Neurological Sciences)
Source: Neurological Sciences - January 27, 2020 Category: Neurology Source Type: research

Delayed and isolated abducens nerve palsy following minor head injury
(Source: Neurological Sciences)
Source: Neurological Sciences - January 25, 2020 Category: Neurology Source Type: research

Brain activity underlying face and face pareidolia processing: an ERP study
ConclusionThe results indicated that faces and face pareidolias are processed in the early stages of visual perception. In addition, the N250 component does not reflect the neural processing of faces and face pareidolias. (Source: Neurological Sciences)
Source: Neurological Sciences - January 24, 2020 Category: Neurology Source Type: research

Association between serum bilirubin and asymptomatic intracranial atherosclerosis: results from a population-based study
ConclusionTbil, Dbil, and Ibil might be independent protective factors for aICAS and moderate-to-severe aICAS in rural-dwelling Chinese people, especially among older participants aged ≥ 60 years. (Source: Neurological Sciences)
Source: Neurological Sciences - January 23, 2020 Category: Neurology Source Type: research

Spectral domain OCT can differentiate the retinal morphological changes of patients with Parkinson ’s disease in clinical middle stages
ConclusionSD-OCT examination can detect the changes in retinal morphology in PD patients, and it may not be found the difference until the patients are in the H-Y III stage (the middle stage of PD). (Source: Neurological Sciences)
Source: Neurological Sciences - January 23, 2020 Category: Neurology Source Type: research

Italian translation and psychometric validation of the Manual Ability Measure-36 (MAM-36) and its correlation with an objective measure of upper limb function in patients with multiple sclerosis
DiscussionThe adapted MAM-36 showed adequate psychometric properties. However, indications of problematic targeting to PwMS with low disability emerged. For this reason, use of the scale appears to be more suitable among patients with moderate-to-severe disability. (Source: Neurological Sciences)
Source: Neurological Sciences - January 23, 2020 Category: Neurology Source Type: research

Why we fail: mechanisms and co-factors of unsuccessful thrombectomy in acute ischemic stroke
ConclusionIn 20% of failing MT, thrombus cannot be reached/passed. Direct carotid puncture or surgical arterial access could be considered in these cases.In 80% of failing interventions, thrombus can be passed with the device, but the occluded vessel cannot be recanalized. Rescue techniques can be an option. Development of new devices and techniques is necessary to improve recanalization rates. Assessment of pre-existing illness could sensitize for occurring complications. (Source: Neurological Sciences)
Source: Neurological Sciences - January 23, 2020 Category: Neurology Source Type: research

Brain hyperintensities in magnetic resonance imaging of patients with mild acute focal neurology
ConclusionHyperintensities could serve as a diagnostic and prognostic imaging biomarker for patients, presenting with mild acute focal neurology, warranting application of automated quantification methods. However, larger cohorts are required to provide a definitive answer especially as this is a heterogenous group of patients. (Source: Neurological Sciences)
Source: Neurological Sciences - January 23, 2020 Category: Neurology Source Type: research

Aggressive anti-LGI1 encephalitis defeated by one cycle of intravenous rituximab —a case report
(Source: Neurological Sciences)
Source: Neurological Sciences - January 22, 2020 Category: Neurology Source Type: research

An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum
AbstractBackgroundAgenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS).ObjectiveThe aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes.MethodsThe data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were ...
Source: Neurological Sciences - January 22, 2020 Category: Neurology Source Type: research

Diagnosis of severe cognitive disorder: the family history as a key issue
(Source: Neurological Sciences)
Source: Neurological Sciences - January 21, 2020 Category: Neurology Source Type: research

Multiple sclerosis and neuromyelitis optica spectrum disorders in Argentina: comparing baseline data from the Argentinean MS Registry (RelevarEM)
The objective of this study was to describe and compare the baseline epidemiological data of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) patients included in RelevarEM (Clinical Trials registry number NCT03375177).MethodsRelevarEM is a longitudinal, strictly observational MS and NMOSD registry in Argentina. Epidemiological and comorbidity data from MS and NMOSD patients were described and compared. For comorbidities, the Charlson comorbidity index (CCI) was used to calculate the burden at entry. CCI was stratified in 0 and ≥ 1 and described for the entire cohort.ResultsA total of 15...
Source: Neurological Sciences - January 20, 2020 Category: Neurology Source Type: research

A survey on clinical pathways of patients with epilepsy and cerebrovascular diseases or brain tumors
ConclusionsClinical decisions on epilepsy or seizures in patients with such comorbidities are often handled by different specialists. A new team culture and PDTAs are needed to guarantee high standards of diagnostic and therapeutic procedures. (Source: Neurological Sciences)
Source: Neurological Sciences - January 18, 2020 Category: Neurology Source Type: research

Decreased visible deep medullary veins is a novel imaging marker for cerebral small vessel disease
AbstractPurposeVisibility of deep medullary veins (DMVs) seen at SWI is predictive of poor prognosis in ischemic stroke. Few attentions have been paid to DMVs in atherosclerotic cerebral small vessel disease (aCSVD) which is attributed to long-term imbalanced microhemodynamics. We conducted this retrospective study to explore the association between DMVs profiles and aCSVD risk factors, neuroimaging markers.MethodsTwo hundred and two patients identified as aCSVD from January 2017 to March 2019 were included in the study. Their demographic, clinical, laboratory, and neuroimaging data were reviewed. The quantity and morpholo...
Source: Neurological Sciences - January 18, 2020 Category: Neurology Source Type: research

Highlights of the issue 2, 2020
(Source: Neurological Sciences)
Source: Neurological Sciences - January 18, 2020 Category: Neurology Source Type: research

Recurrent stereotyped TIAs: atypical Bow Hunter ’s syndrome due to compression of non-dominant vertebral artery terminating in PICA
(Source: Neurological Sciences)
Source: Neurological Sciences - January 18, 2020 Category: Neurology Source Type: research

The minimal neuropsychological assessment of MS patients (MACFIMS): normative data of the Italian population
AbstractCognitive impairment is common in multiple sclerosis (MS), and research has emphasized the crucial role of cognitive assessment in disease monitoring. The minimal neuropsychological assessment of MS (MACFIMS) represents one of the neuropsychological batteries most widely used throughout the world. To date, a complete validation, as well as normative values of an alternative form, is lacking in the Italian population, limiting the use of this tool in longitudinal assessment. A total of 200 healthy subjects (127 females and 73 males) were recruited from the community in 8 Italian cities and were evaluated with the MA...
Source: Neurological Sciences - January 17, 2020 Category: Neurology Source Type: research