SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the “2+0” genotype
ConclusionThe results of this study support the notion that CODE-SEQ will be extremely useful in detecting SMA genotypes in large-scale population-based screening studies. (Source: Neurological Sciences)
Source: Neurological Sciences - April 6, 2020 Category: Neurology Source Type: research

Psychosocial impact of sport activity in neuromuscular disorders
AbstractPrevious studies demonstrated the benefits of motor exercise and physical activity in neuromuscular disorders. However, very few papers assessed the effects of sport practise. The aim of this multicentre study was to assess the impact of sport activity on self-esteem and emotional regulation in a cohort of athletes with neuromuscular disorders. The 38 patients with Duchenne, Becker or other types of muscular dystrophy or spinal muscular atrophy practising sport (aged 13 –49 years) and 39 age-, gender-, disability- and disease-matched patients not practising sport were enrolled. Testing procedures to asse...
Source: Neurological Sciences - April 4, 2020 Category: Neurology Source Type: research

Plasma exchange in acute attacks of demyelinating diseases of the central nervous system: clinical outcomes and predictors of response
ConclusionsPLEX is a safe and effective treatment for acute attacks of DDCNS. EDSS score at admission and early clinical improvement with PLEX were factors associated with good response to PLEX. (Source: Neurological Sciences)
Source: Neurological Sciences - April 4, 2020 Category: Neurology Source Type: research

Possible clinical role of MOG antibody testing in children presenting with acute neurological symptoms
In this study, we tested the presence of MOG-Ab and AQP4-Ab in 57 children at first onset of acute neurological symptoms; three clinical subgroups were identified: 12 patients had acquired inflammatory demyelinating CNS syndromes, 11 had other auto immune/immune-mediated disorders of the central and peripheral nervous system and 34 had non-immune-mediated CNS disorders. MOG-Abs were found positive only in a subset of cases in the subgroup with acquired inflammatory demyelinating CNS syndromes (in 2/12 patients, both with non-MS phenotype) and in none of the patients with other autoimmune and immune-mediated disorders of th...
Source: Neurological Sciences - April 3, 2020 Category: Neurology Source Type: research

A case of anti-gamma-aminobutyric acid-B receptor encephalitis coexisting with ankylosing spondylitis
(Source: Neurological Sciences)
Source: Neurological Sciences - April 3, 2020 Category: Neurology Source Type: research

Peduncular hallucinations after STN-DBS: an unusual case and review of the literature
(Source: Neurological Sciences)
Source: Neurological Sciences - April 3, 2020 Category: Neurology Source Type: research

Cerebrospinal fluid MOG-antibodies in anti-NMDA receptor encephalitis with leptomeningeal enhancement
(Source: Neurological Sciences)
Source: Neurological Sciences - April 3, 2020 Category: Neurology Source Type: research

Correction to: The assessment of severe lexical disorders in Italian individuals with aphasia
This article was published with incomplete Table 4. The Equivalent scores were missing during the submission. The correct Table is presented here. (Source: Neurological Sciences)
Source: Neurological Sciences - April 3, 2020 Category: Neurology Source Type: research

Informing MS patients on treatment options: a consensus on the process of consent taking
AbstractIn the last years, change in multiple sclerosis (MS) therapeutic scenario has highlighted the need for an improved doctor-patient communication in advance of treatment initiation in order to allow patient ’s empowerment in the decision-making process.AimsThe aims of our project were to review the strategies used by Italian MS specialists to inform patients about treatment options and to design a multicentre shared document that homogenizes the information about disease-modifying treatment (DMTs) and the procedure of taking informed consent in clinical practice.ResultsThe new resource, obtained by consensus am...
Source: Neurological Sciences - April 2, 2020 Category: Neurology Source Type: research

Outcome of intravenous rt-PA therapy for a stroke patient during the short-term period after TAVI
(Source: Neurological Sciences)
Source: Neurological Sciences - April 2, 2020 Category: Neurology Source Type: research

Recurrent laryngospasm as the only presenting feature of multiple system atrophy
(Source: Neurological Sciences)
Source: Neurological Sciences - April 2, 2020 Category: Neurology Source Type: research

Migrainous facial palsy (MFP): the introduction of a new concept of neurovascular conflict and its preliminary clinical evidence
ConclusionWe concluded that neurogenic inflammation of the facial nerve trunk caused by its proximity to the dilated posterior auricular/stylomastoid/occipital and superficial temporal arteries during a migraine attack leads to a temporary lower motor neuron type of paresis of the muscles supplied by the facial nerve.SignificanceThis pathophysiological understanding of the disease mechanism could open new avenues as to the treatment of this condition. This proposition indicates in clearer light than before, a possible mechanism to explain the higher incidence and risk of facial palsy in migraineurs. (Source: Neurological Sciences)
Source: Neurological Sciences - April 1, 2020 Category: Neurology Source Type: research

Unusual imaging appearance of a rare cortical ependymoma mimicking angiocentric glioma
We report a cortical ependymoma displaying an unusual imaging pattern. The lesion demonstrated a T1 hyperintense rim and limited perilesional edema but lacked contrast enhancement. T1 hyperintense rim and stalk-like ventricular extension of FLAIR hyperintensity have previously been considered pathognomonic of angiocentric glioma. Hence, we conclude that the radiologists should be aware of this uncommon imaging pattern of cortical ependymoma. The condition warrants prompt surgical management in view of the increased potential for higher grade transformation, unlike grade I roman numeral may be given angiocentric gliomas. (S...
Source: Neurological Sciences - April 1, 2020 Category: Neurology Source Type: research

Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy
ConclusionThe description of this family is of particular interest: it highlights the possibility of transient or permanent aggravation of spastic paraplegia due to SPG9 during pregnancy, suggesting a direct link between neurological symptoms and amino acid defect in a period of higher requirements and the potential benefit of amino acid supplementation; it underscores the value of plasma citrulline on fasting plasma AAC as a biomarker for this disease; it shows the variable expression of the disease. (Source: Neurological Sciences)
Source: Neurological Sciences - March 28, 2020 Category: Neurology Source Type: research

Does M1 anodal transcranial direct current stimulation affects online and offline motor learning in patients with multiple sclerosis?
AbstractObjectiveMultiple Sclerosis (MS) is one of the most common neurological diseases in the world. Due to structural and functional changes in central nerves system, the patients with MS may affected by sensory-motor learning deficits. The aims of the current study was to assess the effect of primary motor cortex (M1) anodal transcranial direct current stimulation (a-tDCS) on online and offline motor learning in patients with MS.Materials and methodsThirty-nine patients with MS were randomly assigned in three groups: concurrent M1 a-tDCS and serial response time test (SRTT) (n=13), concurrent sham a-tDCS and SRTT (n=13...
Source: Neurological Sciences - March 27, 2020 Category: Neurology Source Type: research

Antithrombotic regimen for ischemic stroke patients with concomitant atrial fibrillation and extracranial/intracranial artery stenosis: what is the best way?
(Source: Neurological Sciences)
Source: Neurological Sciences - March 26, 2020 Category: Neurology Source Type: research

The Bologna motor and non-motor prospective study on parkinsonism at onset (BoProPark): study design and population
ConclusionsWe expect that the prospective nature of the BoProPark study as well as the comprehensive, instrumental evaluation of motor and non-motor symptoms in patients with parkinsonism will provide important new insights for both clinical practice and research. Our data could be used for comparison with other cohorts and shared with national and international collaborators to develop new innovative projects. (Source: Neurological Sciences)
Source: Neurological Sciences - March 26, 2020 Category: Neurology Source Type: research

Neck cooling induces blood pressure increase and peripheral vasoconstriction in healthy persons
AbstractIntroductionNoninvasive temperature modulation by localized neck cooling might be desirable in the prehospital phase of acute hypoxic brain injuries. While combined head and neck cooling induces significant discomfort, peripheral vasoconstriction, and blood pressure increase, localized neck cooling more selectively targets blood vessels that supply the brain, spares thermal receptors of the face and skull, and might therefore cause less discomfort cardiovascular side effects compared to head- and neck cooling. The purpose of this study is to assess the effects of noninvasive selective neck cooling on cardiovascular...
Source: Neurological Sciences - March 26, 2020 Category: Neurology Source Type: research

Lymphocyte-to-monocyte ratio and risk of hemorrhagic transformation in patients with acute ischemic stroke
ConclusionLower LMR was independently related to higher risk of HT in patients with AIS. Admission LMR may be used as one of the predictors for HT. Further prospective multicenter studies are needed to validate our findings. (Source: Neurological Sciences)
Source: Neurological Sciences - March 25, 2020 Category: Neurology Source Type: research

Does the network model fits neurophysiological abnormalities in blepharospasm?
AbstractSeveral neurophysiological abnormalities have been described in blepharospasm, including loss of inhibition in sensorimotor pathways at cortical and brainstem level and abnormalities of sensory processing. These changes have traditionally been linked to a basal ganglia dysfunction. However, this interpretation has recently been questioned and alternative pathophysiological model positing that dystonia is a network disorder has been proposed. On the basis of available information, we can speculate that loss of inhibition at cortical and brainstem level and abnormalities of sensory processing in blepharospasm probabl...
Source: Neurological Sciences - March 25, 2020 Category: Neurology Source Type: research

Acute hematoma expansion after spontaneous intracerebral hemorrhage: risk factors and impact on long-term prognosis
AbstractIntroductionHematoma expansion (HE) after intracerebral hemorrhage (ICH) is associated with short-term mortality, but its impact on long-term prognosis is still unclear. The aim of this study was to evaluate the impact of HE on long-term survival and functional status after spontaneous ICH.MethodsConsecutive patients admitted with spontaneous ICH were prospectively enrolled and followed up for a minimum of 2  years. We compared short-term (
Source: Neurological Sciences - March 25, 2020 Category: Neurology Source Type: research

Effect of phenytoin on retinal ganglion cells in acute isolated optic neuritis
ConclusionPhenytoin is not probably safe and effective as neuroprotection after acute ON. Further investigation with other sodium channel inhibitors could be considered. (Source: Neurological Sciences)
Source: Neurological Sciences - March 24, 2020 Category: Neurology Source Type: research

Irritability and its relationships with psychological symptoms in adolescents with migraine: a case-control study
AbstractObjectiveThe aim of this study was to investigate self- and parent-reported irritability in adolescents with migraine and to evaluate the relationship between self- and parent-reported irritability and psychological symptoms in adolescents with migraine.MethodsThe sample of this single-center cross-sectional case-control study consisted of 71 adolescents with migraine (who were followed in a pediatric neurology clinic) and their parents. The control group consisted of 41 age- and sex-matched healthy adolescents and their parents.ResultsIt was observed that there were significant differences in both self- (p 
Source: Neurological Sciences - March 24, 2020 Category: Neurology Source Type: research

Clinical outcomes of cerebral infarction in nonagenarians compared among four age groups
ConclusionsPatients in the super old group had more severe symptoms and poorer outcomes than younger age groups. However, patients with mild symptoms tended to have better prognoses and returned to daily life similar to the younger age group. (Source: Neurological Sciences)
Source: Neurological Sciences - March 24, 2020 Category: Neurology Source Type: research

Venous thromboembolism prevention with low molecular weight heparin may reduce hemorrhagic transformation in acute ischemic stroke
ConclusionsThis retrospective study suggests that SHPD may play a protective role in HT appearance and evolution, which requires verification by a randomized clinical trial. (Source: Neurological Sciences)
Source: Neurological Sciences - March 24, 2020 Category: Neurology Source Type: research

Abnormality of multimodal evoked potentials in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)
ConclusionsThe authors indicated to the possibility of central sensory involvement in patients with CIDP, especially based on the prolonged inter-latency of BAEPs with simultaneously confirmed root affection. The severity of central damage correlates with the degree of peripheral nerve impairment. (Source: Neurological Sciences)
Source: Neurological Sciences - March 24, 2020 Category: Neurology Source Type: research

Structural remodeling secondary to functional remodeling in advanced-stage peripheral facial neuritis
ConclusionStructural remodeling, especially changes in white matter microstructure, may be the central mechanism for severe sequelae of peripheral facial neuritis. (Source: Neurological Sciences)
Source: Neurological Sciences - March 23, 2020 Category: Neurology Source Type: research

Sympathetic outflow to skin predicts central autonomic dysfunction in multiple system atrophy
AbstractBackgroundTo find out the physiological method for evaluating the severity of central autonomic dysfunction, we performed detailed evaluation of cutaneous vasomotor neural function in a comparatively large sample of multiple system atrophy (MSA).MethodsWe evaluated cutaneous vasomotor neural function in 24 MSA patients. Skin sympathetic nerve activity (SSNA) and sympathetic skin response (SSR) and skin blood flow (skin vasomotor reflex [SVR]) were recorded at rest, as well as reflex changes after electrical stimulation. The parameters investigated were SSNA frequency at rest, reflex latency and amplitude of SSNA re...
Source: Neurological Sciences - March 21, 2020 Category: Neurology Source Type: research

Cortical venous thrombosis, multiple cortical infarctions, and vaginal bleeding in a Chinese family with hypofibrinogenemia caused by the FGG mutation c.1019C & gt;T: a case report
(Source: Neurological Sciences)
Source: Neurological Sciences - March 21, 2020 Category: Neurology Source Type: research

Viral encephalitis followed by anti-NMDAR encephalitis with concomitant MOG antibody-positive central nervous system demyelination in a child
(Source: Neurological Sciences)
Source: Neurological Sciences - March 21, 2020 Category: Neurology Source Type: research

Listening to the neurological teams for multiple sclerosis: the SMART project
ConclusionThe interviewed neurological teams need to limit the risk of compassion fatigue, which appeared from the first years of the career. The prevalence of the risk among neurologists suggests more awareness among scientific societies and health care managers on the risk for this category, as first step to prevent it. (Source: Neurological Sciences)
Source: Neurological Sciences - March 20, 2020 Category: Neurology Source Type: research

A case of painless neuralgic amyotrophy responsive to immunotherapy
(Source: Neurological Sciences)
Source: Neurological Sciences - March 18, 2020 Category: Neurology Source Type: research

Highlights of the issue 4, 2020
(Source: Neurological Sciences)
Source: Neurological Sciences - March 17, 2020 Category: Neurology Source Type: research

Research advances on L-DOPA-induced dyskinesia: from animal models to human disease
AbstractL-3,4-dihydroxyphenylalanine (L-DOPA) was introduced about half a century ago and is still the most effective medicine for the treatment of Parkinson ’s disease (PD). However, such chronic treatment eventually leads to L-DOPA-induced dyskinesia (LID) on the majority of PD patients. Besides L-DOPA, dopamine agonists are able to induce dyskinesia as well. So far no drug is yet claimed to effectively curb LID, and amantadine has only a modest bene fit on LID patients. Thus, understanding the molecular mechanisms behind LID is urgently needed, and developing new antiparkinsonian medications with low dyskinesia po...
Source: Neurological Sciences - March 17, 2020 Category: Neurology Source Type: research

Brain Awareness Week, CoVID-19 infection and Neurological Sciences
(Source: Neurological Sciences)
Source: Neurological Sciences - March 16, 2020 Category: Neurology Source Type: research

Comparison of the efficacy of intramuscular botulinum toxin type-A injection into the pectoralis major and the teres major muscles and suprascapular nerve block for hemiplegic shoulder pain: a prospective, double-blind, randomized, controlled trial
This study aims to investigate the effect of botulinum toxin-A (BoNT-A) injection into pectoralis major and teres major muscles and suprascapular nerve block (SSNB) on pain, range of motion (ROM), and upper extremity function for (hemiplegic shoulder pain) HSP, and to compare the effectiveness of these two methods.Materials and methodsSixty patients with HSP were randomly assigned into 2 groups. The Group 1 (n = 30) received BoNT-A injection into the pectoralis major and teres major, and the Group 2 (n = 30) received SSSB. Patients were evaluated just before the start of the study, and 2 and 6 ...
Source: Neurological Sciences - March 16, 2020 Category: Neurology Source Type: research

Dynamic increase in neutrophil levels predicts parenchymal hemorrhage and function outcome of ischemic stroke with r-tPA thrombolysis
ConclusionsDynamic increase in neutrophil and NLR after stroke may predict PH and 3-month poor outcome in AIS patients receiving r-tPA treatment. Therefore, neutrophil and NLR may serve as activity markers for PH and 3-month poor prognosis in AIS patients with intravenous thrombolysis. (Source: Neurological Sciences)
Source: Neurological Sciences - March 16, 2020 Category: Neurology Source Type: research

Sexual dysfunction in male patients with Parkinson ’s disease: related factors and impact on quality of life
AbstractBackgroundSexual dysfunction (SD) is a common, yet under-reported, non-motor symptom (NMS) of Parkinson ’s disease (PD). The present study investigated the sexual functions in PD male patients, its correlation with motor and other NMSs, and their impact on health-related quality of life (HRQoL).MethodsThe sexual functions of 40 PD male patients were assessed using the International Index of Erectile Function (IIEF) and compared to 25 healthy age-matched controls. Patients were evaluated using the NMS Scale (NMSS) and the Arabic version of the Parkinson ’s-Disease Questionnaire (PDQ-39). We compared the ...
Source: Neurological Sciences - March 14, 2020 Category: Neurology Source Type: research

Psychosocial repercussion of migraine: is it a stigmatized disease?
ConclusionsThere is a stigma around migraine in our society, which seems to be more prevalent in patients with certain socio-demographic characteristics, and that is related to stress, mood alterations, and low self-esteem. Trying to reduce stigma could contribute to improve the control of migraine and reduce the impact of the disease at a socio-economic level. (Source: Neurological Sciences)
Source: Neurological Sciences - March 14, 2020 Category: Neurology Source Type: research

Video analysis of long-term effects of levodopa-carbidopa intestinal gel on gait and posture in advanced Parkinson ’s disease
AbstractGait and posture parameters of ten advanced Parkinson ’s disease (PD) patients were assessed before and after starting levodopa-carbidopa intestinal gel (LCIG) treatment by means of both objective video analysis and clinical assessment. After 3 years of treatment, gait and posture remained stable. A slower gait velocity at baseline significantly cor relates with a higher axial and motor severity at follow-up. This pilot study suggests that validated video analysis software may support the clinical assessment of axial signs in PD patients who are candidates for device-aided therapies. (Source: Neurological Sciences)
Source: Neurological Sciences - March 14, 2020 Category: Neurology Source Type: research

Type B diencephalic –mesencephalic junction dysplasia, a congenital brainstem malformation that may be silent until adulthood: a case report
(Source: Neurological Sciences)
Source: Neurological Sciences - March 13, 2020 Category: Neurology Source Type: research

Pharmacotherapy for tics in adult patients with Tourette syndrome and other tic disorders
ConclusionsThe use of pharmacotherapy options for tic management observed at a specialist clinic for adults with TS reflects guideline recommendations. We found that the presence of co-morbid obsessive-compulsive disorder/behaviours correlates with the choice of anti-dopaminergic medications over alpha-2-agonists, in line with available evidence on the efficacy of anti-dopaminergic medications for the treatment of specific tic –related behavioural symptoms. (Source: Neurological Sciences)
Source: Neurological Sciences - March 13, 2020 Category: Neurology Source Type: research

Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project
AbstractCerebral amyloid angiopathy (CAA) is one of the major types of cerebral small vessel disease, and a leading cause of spontaneous intracerebral hemorrhage and cognitive decline in elderly patients. Although increasingly detected, a number of aspects including the pathophysiology, the clinical and neuroradiological phenotype, and the disease course are still under investigation. The incomplete knowledge of the disease limits the implementation of evidence-based guidelines on patient ’s clinical management and the development of treatments able to prevent or reduce disease progression. The SENECA (SEarchiNg biom...
Source: Neurological Sciences - March 12, 2020 Category: Neurology Source Type: research

The elevation of S100B and downregulation of circulating miR-602 in the sera of ischemic stroke (IS) patients: the emergence of novel diagnostic and prognostic markers
AbstractIschemic stroke (IS) is a major cause of mortality and disability. However, no reliable prognostic or diagnostic biomarker has been utilized to date. Here, we have evaluated the serum S100B concentration and miR-602 expression as potential biomarkers for IS. Fifty-two IS patients and 52 age- and sex-matched healthy volunteers were enrolled. Blood samples were collected from all patients at the time of admission, 24 and 48  h later, at the time of discharge, and 3 months later. Real-time (RT) PCR was used to measure the serum level of miR602. We also measured the serum concentration of S100B using ELISA. A...
Source: Neurological Sciences - March 12, 2020 Category: Neurology Source Type: research

Levodopa/carbidopa/entacapone for the treatment of early Parkinson ’s disease: a meta-analysis
AbstractTreatment of Parkinson ’s disease with levodopa/carbidopa/entacapone (LCE) has been studied for a long time. However, the efficacy and safety of LCE in the treatment of early Parkinson’s disease (PD) still need to be assessed. Our objective was to do a meta-analysis of relevant randomized controlled trials (RCTs) to e valuate the efficacy and safety of LCE for early PD. PubMed, Embase, the Cochrane Library, and the Web of Science were searched for RCTs with “levodopa/carbidopa/entacapone” and “Parkinson’s disease” as keywords. The search period was from inception to October...
Source: Neurological Sciences - March 11, 2020 Category: Neurology Source Type: research

Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease
AbstractIntroductionLate-Onset Pompe Disease (LOPD) is characterized by progressive limb-girdle muscle weakness and respiratory dysfunction. Diaphragm is the most impaired muscle in LOPD and its dysfunction cause major respiratory symptoms. The aim of this study was to evaluate the correlation between diaphragm thickness and mobility assessed by ultrasonography and respiratory function and muscle strength tests in patients with LOPD.Methods17 patients with LOPD (9 female, 47  ± 15 years) and 17 age and gender-matched healthy controls underwent spirometry, muscle strength testing, and ultrasound ev...
Source: Neurological Sciences - March 11, 2020 Category: Neurology Source Type: research

Biomarkers in traumatic brain injury: new concepts
AbstractTraumatic brain injury is a multifaceted condition that encompasses a spectrum of injuries: contusions, axonal injuries in specific brain regions, edema, and hemorrhage. Brain injury determines a broad clinical and disability spectrum due to the implication of various cellular pathways, genetic phenotypes, and environmental factors. It is challenging to predict patient outcomes, to appropriately evaluate the patients, to determine a suitable treatment strategy and rehabilitation program, and to communicate with patient relatives. Biomarkers detected from body fluids are potential evaluation tools for traumatic brai...
Source: Neurological Sciences - March 10, 2020 Category: Neurology Source Type: research

Superficial siderosis with rapid progressive cognitive decline
(Source: Neurological Sciences)
Source: Neurological Sciences - March 10, 2020 Category: Neurology Source Type: research

Alterations in intra- and internetwork functional connectivity associated with levetiracetam treatment in temporal lobe epilepsy
ConclusionsChanges in intranetwork connectivity are a key effect of LEV administration.SignificanceAlterations in intranetwork connectivity patterns may underlie the cognitive effects of LEV administration; this finding improves our understanding of the neural mechanisms of LEV therapy. (Source: Neurological Sciences)
Source: Neurological Sciences - March 9, 2020 Category: Neurology Source Type: research

Clinico-diagnostic features of neuralgic amyotrophy in childhood
AbstractNeuralgic amyotrophy (NA), even known as Personage-Turner ’s syndrome (PTS), is a neurologic condition, affecting the lower motor neurons of brachial plexus and/or individual nerves or nerve branches, characterized by pain, muscle weakness/atrophy, and sensory symptoms. NA has an acute/subacute onset, after an infection or vaccination; it is more common in male and is rare in the pediatric population. The etiology remains uncertain, being considered heterogeneous and multifactorial. A severe acute neurologic pain around the shoulder girdle is the classic presenting symptom at onset. As the pain subsides, weak...
Source: Neurological Sciences - March 5, 2020 Category: Neurology Source Type: research