Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.

Background: Biallelic mutations in the PRKN gene are a common cause of early-onset Parkinson's disease (EOPD). In addition to single nucleotide variants, structural variants contribute substantially to the mutational profile of PRKN. A significant portion of patients with EOPD remains genetically unsolved.

Clinical predictors of speech changes after subthalamic neurostimulation in Parkinson's disease.

Objective: To identify preoperative clinical predictive factors of postoperative speech changes in Parkinson's disease (PD) patients with bilateral subthalamic nucleus deep brain stimulation (STN-DBS).

Methods: Demographic variables, neuroimaging data, and clinical characteristics were retrospectively collected from consecutive PD patients, before, 1 and 10-years after bilateral STN-DBS at the Grenoble University Hospital (France) from 1993 to 2015. Predictors of postoperative speech changes (demographic, clinical and MRI variables) were assessed with univariate and multivariate logistic regression analyses.

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.

-linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria.

Background: The p.Ser71Arg variant is a novel cause of monogenic Parkinson's disease (PD), for which detailed phenotypic information is currently scarce.

Objectives: To clinically and biologically characterize individuals with PARK- to gain insights into genotype-phenotype relationships, disease severity, and underlying pathology.

Digital Inclusion in Parkinson's Disease: A Case-Control Study.

Background: People with Parkinson's disease (pwPD) are a candidate population to regularly use telemedicine services. However, their implementation into clinical practice can be limited by the so-called "digital exclusion" of the target population.

Objective: We aimed to (1) explore the level of digital inclusion in a cohort of pwPD as compared to sex- and age-matched healthy controls (HC), and (2) to determine the possible influence of both socio-demographic factors and disease features on the level of digital exclusion.

Need for awareness and surveillance of long-term post-COVID neurodegenerative disorders. A position paper from the neuroCOVID-19 task force of the European Academy of Neurology.

Background: Neuropathological and clinical studies suggest that infection with SARS-CoV-2 may increase the long-term risk of neurodegeneration.

Methods: We provide a narrative overview of pathological and clinical observations justifying the implementation of a surveillance program to monitor changes in the incidence of neurodegenerative disorders in the years after COVID-19.

Results: Autopsy studies revealed diverse changes in the brain, including loss of vascular integrity, microthromboses, gliosis, demyelination, and neuronal- and glial injury and cell death, in both unvaccinated and vaccinated individuals irrespective of the severity of COVID-19.

18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant.

Objective: The RAB32 S71R variant has been linked to autosomal dominant Parkinson's disease (RAB32-PD), sharing common biological mechanisms with the leucine-rich repeat kinase-2 (LRRK2) gene. Measurement of regional differences in glucose metabolism with 18F-fluorodeoxyglucose (FDG) PET may improve the understanding of the neural mechanisms of RAB32-related PD and non-mutated PD (NM-PD). In this brief communication, we compared FDG-PET findings of eight RAB32-PD with a cohort of NM-PD.

Instrumental balance assessment in Parkinson's disease and parkinsonism. A systematic review with critical appraisal of clinical applications and quality of reporting.

Introduction: Patients with Parkinson's disease (pwPD) and atypical parkinsonism usually complain of impaired balance. Instrumental posturography is widely used to quantitatively assess static balance in pwPD but many posturographic parameters and protocols have been suggested. We aimed to appraise the use of static posturography in pwPD and atypical parkinsonism, and identify gaps hindering its translation into clinical routine.

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.

Objective: Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting that calcium deposition may not be limited to the brain, but it is unknown whether this is a hallmark of all PFBC genetic and clinical subtypes.

Is there still hesitancy towards SARS-CoV-2 vaccination among people with neurological disease- a survey of the NeuroCOVID-19 task force of the European Academy of Neurology.

Background: An online 3-item survey was sent to the European Academy of Neurology (EAN) community and inquired about the persistence of SARS-CoV-2 vaccination skepticism and the underlying thoughts and factors restricting vaccine use among patients with neurological conditions.

Results: We obtained 616 responses from 84 countries, predominantly from Europe. In the view of the treating neurologist, patients with multiple sclerosis (MS), neuroimmunological disorders (ND), and chronic neurological infections continued to have high levels of skepticism toward SARS-CoV-2 vaccination.

Are you tuned in to others' mind? A cross-modal evaluation of affective theory of mind in people with Parkinson's disease.

Affective Theory of Mind (ToM) is the ability to understand other peoples' emotional states and feelings. Several studies showed impaired affective ToM abilities in people with Parkinson's disease (PD). However, most studies tested this ability by using single-stimulus modality tasks (visual cues).

Cerebral Amyloid-β Deposition, Axial Features, and Cognitive Alterations in Patients with Parkinson's Disease Treated with Bilateral STN-DBS: A Long-Term Cohort Study.

Our aim was to evaluate the possible long-term cerebral deposition of amyloid-β in patients with PD treated with subthalamic nucleus deep brain stimulation (STN-DBS) and its possible influence on axial and cognitive variables. Consecutive PD patients treated with bilateral STN-DBS with a long-term follow-up were included. The amyloid-β deposition was evaluated postoperatively through an 18F-flutemetamol positron emission tomography (PET) study.

Recurrent Falls as the Only Clinical Sign of Cortical-Subcortical Myoclonus: A Case Report.

Some authors use the term cortical-subcortical myoclonus to identify a specific type of myoclonus, which differs from classical cortical myoclonus in that the abnormal neuronal activity spreads between the cortical and subcortical circuits, producing diffuse excitation. The EEG shows generalized spike-and-wave discharges that correlate with the myoclonic jerks. We report the case of a 79-year-old patient with a history of right thalamic deep hemorrhagic stroke, with favorable evolution.

Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.

Background: The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).

Objective: The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.

Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.

Background: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too.

Pathophysiology of COVID-19-Related Extrapyramidal Disorders.

Coronavirus disease 2019 (COVID-19) has been associated with a variety of neurological manifestations (i.e., anosmia, ageusia, myalgia, headache) and neurological syndromes (i.

Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson's Disease: A Possible Factor Influencing Clinical Phenotype?

Neurosteroids are pleiotropic molecules involved in various neurodegenerative diseases with neuroinflammation. We assessed neurosteroids' serum levels in a cohort of Parkinson's Disease (PD) patients with heterozygous glucocerebrosidase (GBA) mutations (GBA-PD) compared with matched cohorts of consecutive non-mutated PD (NM-PD) patients and healthy subjects with (GBA-HC) and without (NM-HC) GBA mutations. A consecutive cohort of GBA-PD was paired for age, sex, disease duration, Hoehn and Yahr stage, and comorbidities with a cohort of consecutive NM-PD.