Clinical and instrumental gait phenotyping in people with GLUT-1 deficiency syndrome.

Objectives: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the SLC2A1 gene. GLUT1-DS is characterized by epilepsy, cognitive impairment, movement disorders, and gait abnormalities. In the present study we aimed to characterize gait features of GLUT1-DS by means of gait analysis based on a single inertial measurement unit.

Radiological features of gait phenotypes in patients with idiopathic normal pressure hydrocephalus.

Introduction: According to the higher-level gait disorder (HLGD) pattern, patients with idiopathic normal pressure hydrocephalus (iNPH) can be divided into two motor phenotypes; a disequilibrium (wide-based gait) subtype and a parkinsonian (locomotor) subtype. We aimed to understand the neuroimaging correlates of iNPH phenotyping into different gait patterns, by assessing specific radiological features and their correlations with clinical scores.

Methods: We enrolled 86 probable iNPH patients (53 males; age range: 69-88 years), who underwent a comprehensive clinical assessment, including neuropsychological tests, and a conventional MRI scan.

Integrated management of atypical parkinsonism: a home-based patient-centered healthcare delivery based on telenursing-the IMPACT study protocol.

Background: People with atypical parkinsonism, such as multiple system atrophy and progressive supranuclear palsy, experience a wide range of motor and non-motor symptoms associated with the increasing complexity of care delivery and the increased risk of complications and hospital admissions.

Objectives: To investigate the efficacy and cost-effectiveness of a 12-month remote home-based integrated program aiming to improve healthcare delivery coordinated by a nurse specialized in the management of individuals with atypical parkinsonism (parkinsonism nurse specialist, PKNS) compared to the standard-of-care model.

Design: Multicenter, randomized, single-blind, controlled clinical trial involving 164 individuals with atypical parkinsonism.

Clinical correlates of obstructive sleep apnoea in idiopathic normal pressure hydrocephalus.

Background And Purpose: The pathogenesis of idiopathic normal pressure hydrocephalus (iNPH) remains controversial. Limited studies have indicated a high prevalence of obstructive sleep apnoea (OSA) amongst iNPH patients. The aim was to investigate the clinical correlates of OSA in iNPH patients.

Clinical correlates of "pure" essential tremor: the TITAN study.

Background: To date, there are no large studies delineating the clinical correlates of "pure" essential tremor (ET) according to its new definition.

Methods: From the ITAlian tremor Network (TITAN) database, we extracted data from patients with a diagnosis of "pure" ET and excluded those with other tremor classifications, including ET-plus, focal, and task-specific tremor, which were formerly considered parts of the ET spectrum.

Results: Out of 653 subjects recruited in the TITAN study by January 2022, the data of 208 (31.

Phenotypic Variability in Acquired and Idiopathic Dystonia.

Background: To date, a few studies have systematically investigated differences in the clinical spectrum between acquired and idiopathic dystonias.

Objectives: To compare demographic data and clinical features in patients with adult-onset acquired and idiopathic dystonias.

Methods: Patients were identified from among those included in the Italian Dystonia Registry, a multicenter Italian dataset of patients with adult-onset dystonia.

A Bayesian approach to Essential Tremor plus: A preliminary analysis of the TITAN cohort.

Background: The construct of Essential Tremor plus (ET-plus) refers to patients who also have rest tremor and/or mild neurologic signs of unknown significance. It is unclear whether soft signs represent confounding factors or are useful in suspecting an alternative condition.

Methods: Using a Bayesian approach to ET-plus patients recruited in The ITAlian tremor Network (TITAN), we analyzed the probability that these patients do not have ET.

The Italian tremor Network (TITAN): rationale, design and preliminary findings.

Introduction: The recently released classification has revised the nosology of tremor, defining essential tremor (ET) as a syndrome and fueling an enlightened debate about some newly conceptualized entities such as ET-plus. As a result, precise information of demographics, clinical features, and about the natural history of these conditions are lacking.

Methods: The ITAlian tremor Network (TITAN) is a multicenter data collection platform, the aim of which is to prospectively assess, according to a standardized protocol, the phenomenology and natural history of tremor syndromes.

Non-Invasive Neuromodulation in the Rehabilitation of Pisa Syndrome in Parkinson's Disease: A Randomized Controlled Trial.

Background: Pisa syndrome (PS) is a frequent postural complication of Parkinson's disease (PD). PS poorly responds to anti-parkinsonian drugs and the improvement achieved with neurorehabilitation tends to fade in 6 months or less. Transcranial direct current stimulation (t-DCS) is a non-invasive neuromodulation technique that showed promising results in improving specific symptoms in different movement disorders.

A new p65 isoform that bind the glucocorticoid hormone and is expressed in inflammation liver diseases and COVID-19.

Inflammation is a physiological process whose deregulation causes some diseases including cancer. Nuclear Factor kB (NF-kB) is a family of ubiquitous and inducible transcription factors, in which the p65/p50 heterodimer is the most abundant complex, that play critical roles mainly in inflammation. Glucocorticoid Receptor (GR) is a ligand-activated transcription factor and acts as an anti-inflammatory agent and immunosuppressant.

Consensus on the treatment of dysphagia in Parkinson's disease.

Background: Dysphagia is common in Parkinson's disease (PD). The effects of antiparkinsonian drugs on dysphagia are controversial. Several treatments for dysphagia are available but there is no consensus on their efficacy in PD.

A multinational consensus on dysphagia in Parkinson's disease: screening, diagnosis and prognostic value.

Background: Parkinson's disease (PD) is a neurodegenerative disorder characterized by a combination of motor and non-motor dysfunction. Dysphagia is a common symptom in PD, though it is still too frequently underdiagnosed. Consensus is lacking on screening, diagnosis, and prognosis of dysphagia in PD.

Guillain Barrè syndrome and myelitis associated with SARS-CoV-2 infection.

Despite a likely underestimation due to the many obstacles of the highly infectious, intensive care setting, increasing clinical reports about COVID-19 patients developing acute paralysis for polyradiculoneuritis or myelitis determine additional impact on the disease course and outcome. Different pathogenic mechanisms have been postulated basing on clinical, laboratory and neuroimaging features, and response to treatments. Here we provide an overview with insights built on the available reports.

Clinical and Electrophysiological Outcome Measures of Patients With Post-Infectious Neurological Syndromes Related to COVID-19 Treated With Intensive Neurorehabilitation.

The clinical spectrum of coronavirus disease 2019 (COVID-19), due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, may be quite wide, including neurological symptoms. Among them, para-infectious or post-infectious neurological syndromes (PINS), caused by an inflammatory response against the central and/or peripheral nervous system, have been reported. The aim of this paper is to illustrate the functional and neurophysiological recovery in a series of subjects with COVID-19-related PINS who underwent intensive neurorehabilitation.

Reproducibility and reaction time of swallowing as markers of dysphagia in parkinsonian syndromes.

Objective: To investigate reproducibility and reaction time of oropharyngeal swallowing in patients with Parkinson's disease (PD) and atypical parkinsonisms (APs).

Methods: We enrolled 19 patients with PD, 30 with APs, and 20 healthy subjects. Presence and severity of dysphagia were assessed with clinical and fiberoptic endoscopic evaluations of swallowing.

Is Transcranial Magnetic Resonance Imaging-Guided Focused Ultrasound a Repeatable Treatment Option? Case Report of a Retreated Patient With Tremor Combined With Parkinsonism.

Introduction: In recent years, transcranial Magnetic Resonance Imaging-guided Focused Ultrasound (tcMRgFUS) treatments for functional neurological disorders are giving a new thrust to the field of therapeutic brain lesioning.

Objective: To present the case of a patient affected by tremor combined with Parkinsonism who underwent a second tcMRgFUS thalamotomy because of relapsing tremor after a few months from the first tcMRgFUS treatment.

Methods: A 72-yr-old, right-handed man, came to our observation because of a disabling tremor affecting his upper limbs, refusing any invasive surgical procedure and already treated by tcMRgFUS left Vim thalamotomy.

Urological dysfunctions in patients with Parkinson's disease: clues from clinical and non-invasive urological assessment.

Background: Autonomic nervous system dysfunction, common in patients with Parkinson's disease (PD), causes significant morbidity and it is correlated with poor quality of life. To assess frequency of urinary symptoms in patients with PD, without conditions known to interfere with urinary function.

Methods: Non-demented PD patients were consecutively enrolled from the outpatients clinic of our department.

Intracortical facilitation within the migraine motor cortex depends on the stimulation intensity. A paired-pulse TMS study.

Introduction: Connectivity within the primary motor cortex can be measured using the paired-pulse transcranial magnetic stimulation (TMS) paradigm. This evaluates the effect of a first conditioning stimulus on the motor evoked potential (MEP) elicited by a second test stimulus when different interstimulus intervals are used. Aim of the present study was to provide, in patients suffering from migraine without aura (MwoA), additional information on intracortical facilitation (ICF), short intracortical inhibition (SICI), and long intracortical inhibition (LICI), using different intensities of the test stimulus (TS).