Parasympathetic Dysfunction Prevails in GBA1-Associated Parkinson's Disease.

Background: The role played by sympathetic and parasympathetic autonomic branches in patients with Parkinson's disease carrying variants in the GBA1 gene (GBA-PD) is still elusive.

Objectives: To characterize cardiovascular autonomic function in GBA-PD and I-PD patients with early and mid-stage disease.

Methods: These assessments were performed: cardiovascular autonomic tests, analysis of heart rate and blood pressure variability, cardiac noradrenergic imaging.

Real-world outcomes of Deep Brain Stimulation for dystonia treatment: Protocol for a prospective, multicenter, international registry.

Introduction: Deep Brain Stimulation (DBS) is an established therapeutic approach for the treatment of dystonia. However, to date, no large-scale or comprehensive DBS dystonia patient registry has been yet undertaken. Here, we describe the protocol for a world-wide registry of clinical outcomes in dystonia patients implanted with DBS.

Dystonic Tremor: Time to Change.

Background: The term dystonic tremor is being increasingly used in neurological publications despite uncertainties about its meaning. We provide here a historical reconstruction from its original introduction in 1984 to help distinguish dystonia from essential tremor.

Methods: A comprehensive Pubmed search of MeSH terms "dystonia", "tremor", and "essential tremor" provided the information base for reconstructing historical usage of the term "dystonic tremor".

Safety and efficacy of continuous subcutaneous levodopa-carbidopa infusion (ND0612) for Parkinson's disease with motor fluctuations (BouNDless): a phase 3, randomised, double-blind, double-dummy, multicentre trial.

Background: Conventional oral levodopa therapy for the treatment of Parkinson's disease can be associated with variations in plasma concentrations. Levodopa infusion strategies might provide more consistent drug delivery and fewer motor fluctuations. We aimed to assess the safety and efficacy of a continuous 24 h/day subcutaneous infusion of ND0612 (a levodopa-carbidopa solution) compared with oral immediate-release levodopa-carbidopa for the treatment of motor fluctuations in people with Parkinson's disease.

Post-COVID parkinsonism: A scoping review.

Background: The clinical features and outcomes of post-COVID parkinsonism have not been organized systematically, and the possible correlations between COVID-19 and parkinsonism have not been elucidated. This scoping review addresses these two unmet needs.

Methods: We searched two databases (Pubmed, Embase) for all published cases of post-COVID parkinsonism.

Does sex influence the natural history of idiopathic adult-onset dystonia?

Background: Several earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread.

Distribution of the hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.

Introduction: High repeat expansion (HRE) alleles in have been linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for intermediate allelic expansions have not been defined yet, and clinical interpretation of molecular data lacks a defined genotype-phenotype association. In this study, we provide results from a large multicenter epidemiological study reporting the distribution of repeats in healthy elderly from the Italian population.

Methods: A total of 967 samples were collected from neurologically evaluated healthy individuals over 70 years of age in the 13 institutes participating in the RIN (IRCCS Network of Neuroscience and Neurorehabilitation) based in Italy.

Elderly Onset of Functional Motor Disorders: Clinical Correlates from the Italian Registry.

Background: Functional motor disorders (FMD) are a frequent neurological condition affecting patients with movement disorders. Commonly described in younger adults, their manifestation can be also associated to an elderly onset.

Objective: To assess the prevalence and describe the clinical manifestations of FMD with elderly and younger onset and their relationship with demographical and clinical variables.

A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial.

Background: Amyotrophic lateral sclerosis (ALS) is a highly debilitating neurodegenerative condition. Despite recent advancements in understanding the molecular mechanisms underlying ALS, there have been no significant improvements in therapeutic options for ALS patients in recent years. Currently, there is no cure for ALS, and the only approved treatment in Europe is riluzole, which has been shown to slow the disease progression and prolong survival by approximately 3 months.

Tauro-Urso-Deoxycholic Acid Trials in Amyotrophic Lateral Sclerosis: What is Achieved and What to Expect.

Phase II studies on tauro-urso-deoxycholic acid (TUDCA) raised the promise of safety and efficacy in patients with amyotrophic lateral sclerosis, a currently incurable and devastating disease. We review the available evidence on the efficacy and safety of TUDCA, administered alone or in combination, by analyzing and comparing published and ongoing studies on amyotrophic lateral sclerosis. Two independent phase II studies (using TUDCA solo or combined with sodium phenylbutyrate) showed similar efficacy in slowing disease progression measured by functional scales.

Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.

Background And Objective: Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far.

Methods: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal shared panel of 15 PD-related genes, as well as PD-multiplex ligation-dependent probe amplification in eight Italian diagnostic laboratories.

Do cerebrovascular risk factors impact the clinical expression of idiopathic isolated adult-onset dystonia?

Background: Although acquired dystonia may develop following ischaemic/haemorrhagic stroke, the relationship between cerebrovascular disease and idiopathic dystonia has been poorly investigated. This cross sectional study aimed at evaluating the impact of cerebrovascular risk factors on the clinical expression of idiopathic adult onset dystonia (IAOD), with reference to dystonia localization and dystonia-associated features.

Methods: Data were obtained from the Italian Dystonia Registry.

Case report: Atypical Parkinsonism following SARS-CoV-2 infection.

A wide range of neurological manifestations have been reported during the COVID-19 pandemic, including a variety of Parkinsonian cases. The association of numerous viruses with the development of persistent or transient Parkinsonism has been well-documented. We observed a patient who developed a levodopa non-responsive Parkinsonian syndrome with dysautonomia during a prolonged stay at home for COVID-19.

Clinical features of dystonia and the science of classification.

This chapter describes advances in understanding the clinical features of dystonia since initial clinical recognition and its organization into a coherent and systematic clinical set. The clinical features of dystonia were at first considered an odd neurological movement disorder. Etymology of the word misleadingly underlined muscle tone.