Effects of GBA1 Variants in Patients With Parkinson's Disease and Levodopa-Carbidopa Intestinal Gel: A Nation-Wide, Multicenter, Longitudinal, "Real-World" Study. The EPIC Study.

Background: The outcome of levodopa/carbidopa intestinal gel (LCIG) in Parkinson's disease carriers of GBA1 mutations (GBA-PD) remains uncertain.

Objective: To evaluate the safety and efficacy of LCIG in a large PD cohort, focusing on GBA1 variants.

Methods: This multicenter, retrospective, longitudinal "real-world" study included consecutive patients with advanced PD treated with LCIG at 31 Italian centers; data were collected at baseline, 1-, 5-year, and last-available follow-up.

Opicapone in Parkinson's Disease on Levodopa-Carbidopa Intestinal Gel Treatment: A Pilot, Randomized Study.

Background: Levodopa-carbidopa intestinal gel infusion (LCIG) is an effective therapy for advanced Parkinson's disease (PD). Opicapone (OPC) is an enzyme inhibitor that enhances the bioavailability of levodopa in the brain.

Objectives: This study evaluates the effect of Opicapone addition in PD-LCIG patients, assessing its impact on motor fluctuations and dyskinesias.

Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression.

Background: Spinocerebellar ataxia type 1 (SCA1) is characterised by motor and cognitive symptoms. Sex-specific differences in disease presentation and progression remain poorly understood. This study investigates the role of sex in clinical-demographic and motor/cognitive outcomes in SCA1.

Twenty-five-year experience with apomorphine pump in Parkinson's disease: A real-life long-term retrospective tolerance study.

BackgroundContinuous subcutaneous apomorphine infusion (CSAI) is a standard of care treatment in advanced Parkinson's disease (PD) to treat motor fluctuations. However, literature about its long-term data is scarce.ObjectiveThe aim of this study was to report about CSAI tolerance and discontinuation predictors in a large monocentric cohort.

Global improvement after deep brain stimulation in Parkinson's disease: Comparison between patient and clinician perspectives.

Background: The definition of improvement after Deep Brain Stimulation (DBS) in Parkinson's Disease (PD) remains unclear. The neurologist's perspective, based on measurable parameters, may differ from the patient's perception, and both are crucial for therapeutic success. Whether clinical variables influence these differences is unknown.

Time perception in cerebellar and basal ganglia stroke patients.

The neural mechanisms underlying time perception remain elusive. Although the cerebellum (CE) and basal ganglia (BG) are considered fundamental, evidence primarily stems from studies on neurodegenerative diseases, where progressive and widespread damage complicates linking deficits to specific brain structures. In contrast, brain stroke affects focal areas suddenly, allowing for the assessment of immediate functional consequences.

Cognition in Patients with Spinocerebellar Ataxia 1 (SCA1) and 2 (SCA2): A Neurophysiological and Neuropsychological Approach.

: Cognitive impairment in spinocerebellar ataxia patients has been reported since the early-disease stage. We aimed to assess cognitive differences in SCA1 and SCA2 patients. : We performed neuropsychological (NPS) and neurophysiological (auditory event-related potentials, aERPs) assessments in 16 SCA1 and 18 SCA2 consecutive patients.

Thalamic ventral-Oralis complex/rostral zona incerta deep brain stimulation for midline tremor.

Background: Midline Tremor is defined as an isolated or combined tremor that affects the neck, trunk, jaw, tongue, and/or voice and could be part of Essential Tremor (ET), or dystonic tremor. The clinical efficacy of deep brain stimulation for Midline Tremor has been rarely reported. The Ventral Intermediate Nucleus and Globus Pallidus Internus are the preferred targets, but with variable outcomes.

Case Report: A Case of Creutzfeldt-Jakob Heidenhain Variant Simulating PRES.

The Heidenhain Variant of Creutzfeldt-Jakob disease (CJD) is an uncommon early clinical syndrome of the otherwise regular sporadic CJD, which belongs to the group of prion diseases caused by a transmissible agent, the misfolded form of the prion protein. The most characteristic symptoms of CJD are rapidly progressive cognitive impairment, typical motor manifestations and mental and behavioural changes. Conversely, in the Heidenhain Variant, different kinds of visual disturbances are observed at onset due to microvacuolar spongiform degeneration or, less frequently, confluent spongiform changes in the parieto-occipital area, detectable through brain MRI with hyperintensity in T2-FLAIR or DWI in the same areas.

Recurrent status epilepticus: Clinical features and recurrence risk in an adult population.

Background: Knowledge regarding consequences among status epilepticus (SE) survivors is still scarce. We assessed the risk of recurrence in a cohort of first-ever adult SE survivors, comparing the clinical features of patients with recurrent and incident events.

Methods: We reviewed our prospective register of consecutive SE patients, from September 1st 2013 to September 1st 2020.