The mechanism and pathogenesis of ischemic spinal stroke remain largely undetermined because most clinical studies have included mostly patients without a systematic study of associated vascular and concomitant disease of the vertebral body. Therefore, we assessed the pathogenetic mechanisms and short‐term outcomes of the patients with spinal stroke based on clinical data and magnetic resonance imaging findings.
These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work‐up is indicated.
Dopa‐responsive dystonia has been shown to be caused by a number of different mutations in the gene. Up to now, only several genetic studies of Chinese patients with Dopa‐responsive dystonia (DRD) have been reported.
The aim of this study was to investigate whether we could replicate a recent finding of an association between genetic variants on chromosome 9p21 and the ischaemic stroke (IS) subtype large‐vessel disease (LVD).
Natalizumab (Tysabri) is a monoclonal antibody that was recently approved for the treatment of relapsing‐remitting multiple sclerosis (RRMS). Our primary objective was to analyse the efficacy of natalizumab on disability status and ambulation after switching patients with RRMS from other disease‐modifying treatments (DMTs).
To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood‐onset epileptic encephalopathies other than Lennox–Gastaut syndrome.
Patients with acute disseminated encephalomyelitis (ADEM) may relapse and some may ultimately convert to multiple sclerosis (MS); however, no criteria that can predict MS conversion are available to date. Our aim was to describe the clinical and magnetic resonance imaging (MRI) features of patients with an initial ADEM attack and evaluate which MRI criteria can predict conversion to MS.
The Fahn’s pull (or retropulsion) test is an item in the motor section of the Unified Parkinson’s Disease Rating Scale, which is used almost exclusively to classify postural instability in Parkinson’s disease (PD). However, the test is hard to standardize and is often performed incorrectly, making it hard to interpret. Moreover, it may not be safe to administer in patients who experience pain in the shoulders, neck, trunk and/or lower extremities. Identifying and grading postural instability in PD without requiring a physical challenge would not only be useful for the clinician but would assist patients and caregivers in its recognition. We propose the use of the rapid assessment of postural instability in Parkinson’s disease (RAPID) questionnaire as a non‐physical assessment tool.
An immune activation response resembling virus or type I interferon responses has been observed in untreated multiple sclerosis (MS), but its pathogenic significance is uncertain. We studied the relationship between a type I interferon‐like response in untreated patients with MS and disease activity.
The aim of this study was to analyze the epidemiologic, clinical, and evolutional characteristics in patients who presented convulsions with mild gastroenteritis (CwG) to facilitate the diagnosis in daily clinical practice.
The centres dedicated to dementia throughout Europe use different neuropsychological tests in clinical practice. The European Federation of Neurological Societies task force on neuropsychological tests produced this survey on neuropsychological tests currently being used in different European countries to gather knowledge on the practice of dementia centres and to promote the harmonization of such instruments and future multicentre collaborations.
Clinical symptoms of Parkinson’s disease (PD) include not only motor distress, but also autonomic dysfunction.
The distribution of axonal loss and demyelination has rarely been studied in chronic inflammatory demyelinating polyneuropathy (CIDP). Whether electrophysiological parameters may represent clinically relevant biomarkers of disease activity in the disorder remains uncertain. The purpose of this study was (i) to ascertain the distribution of electrophysiological motor abnormalities to optimize the diagnostic utility of nerve conduction studies and (ii) to establish electro‐clinical correlations in an attempt to find the potential parameters that could represent adequate biomarkers of disease activity and prognosis.
We aimed at determining the safety and efficacy of IV alteplase in Austrian versus non‐Austrian centres as documented in the Internet‐based registers Safe Implementation of Thrombolysis for Stroke – MOnitoring STudy (SITS‐MOST) and – International Stroke Thrombolysis Register (SITS‐ISTR).
Although many studies have documented deficits in general motor functioning in children with fetal alcohol syndrome (FAS), few have employed detailed measurements to explore the specific nature of such disabilities. This pilot study explores whether three‐dimensional (3D) kinematic analysis may generate increased knowledge of the effect of intrauterine alcohol exposure on motor control processes by detecting atypical upper‐limb movement pattern specificity in children with FAS relative to typically developing (TD) children.
Age at menarche is associated with cardiovascular events and lifestyle factors such as body mass index (BMI), certain women’s diseases like breast cancer and endometriosis and with occurrence of certain physical symptoms during puberty. It is unclear whether age at menarche is an independent determinant of headache.
Primary dystonia is a movement disorder attributed mainly to basal ganglia dysfunction. Besides motor control, striatopallidal structures are known to implement also non‐motor functions including processing of cognitive and emotional information. Previous research has already demonstrated deficient recognition of emotional faces in patients with primary focal dystonia. However, it remains elusive if emotional prosody processing in dystonia is also affected.
The association of HLA‐DRB1*15 with susceptibility to multiple sclerosis (MS) has been consistently reported although its effect on the clinical phenotype is still controversial. The objectives of this study are to investigate the influence of the HLA‐DRB1 alleles on the genetic susceptibility to MS and to study their impact on disability progression in a Spanish population.
Progressive carotid artery disease has been shown to cause cerebrovascular events years after a patient’s carotid thromboendarterectomy (CEA). Yet, some late cerebrovascular events in CEA patients are attributable to other etiologies.
Multiple Sclerosis (MS) is traditionally considered as a central nervous system (CNS) white matter inflammatory disease. However, recent studies have focused on the neurodegenerative aspects of the disease, which occur early in the pathological process, providing an opportunity for therapeutic intervention and application of neuroprotective strategies. The relationship between neural inflammation and cell death remains controversial. The recent development of new radiolabelled ligands provides positron emission tomography (PET) imaging with a role for studying early aspects of the MS pathology.
Neuropsychiatric symptoms (NPS), mainly cognitive deficits up to dementia and depressive syndromes have been described repeatedly in Fabry disease (FD). However, examinations regarding the pattern, extent, and frequency of the NPS in FD are still lacking. Moreover, the relationship between NPS and brain structural alterations in FD is unknown. The aim of this study was 1) to characterize NPS in a relatively large cohort of adult subjects with FD, and 2) to explore the association of cognitive performance and depressive syndromes with the FD‐typical brain structural findings.
There are a number of people living with late effects of polio, but the extent of engagement with the upper extremity is unclear. The objective is to describe the polio involvement in persons attending the polio clinic and to assess the perceived problems in self‐reported arm/hand function.
The H63D polymorphism in the hemochromatosis () gene has been reported as a risk factor for amyotrophic lateral sclerosis (ALS) in Europe and America, but no data have been reported for Asia. Here, we investigated the possible association between H63D and sporadic ALS (sALS) in a Chinese Han population.
Subarachnoid haemorrhage (SAH) constitutes a neurological emergency. In most cases, the diagnosis is easy to establish; however, in rare cases, verification of the diagnosis is difficult. In this retrospective analysis, we report the clinical characteristics of patients with SAH who were admitted to our neurological intensive care unit. We focus on the additional diagnostic approaches in patients with a high suspicion of SAH but failure of the ‘classic’ diagnostic tools.
To study the frequency, demographics, clinical characteristics, and outcomes of patients with an antemortem diagnosis of fibrocartilaginous embolism (FCE), a rare cause of spinal cord and cerebral infarction because of the presumed embolization of nucleus pulposus material into the vascular circulation.