Social phobia, anxiety and depression in patients with essential tremor
Objective: ET is the most diagnosed movement disorder, the frequency of which increases as a person ages. Background: To examine the incidence of social phobia,…Age of Onset and Choice of First-line Therapy in Essential Tremor Patients
Objective: The purpose of this study is to examine the effect of age of onset on the selection of initial medication for symptomatic management of…MRgFUS thalamotomy for essential tremor: Lesion location and clinical outcomes
Objective: To examine the clinical outcomes and their relationship with patients’ baseline demographic and clinical features and lesion characteristics at 6-month follow-up in ET patients.…Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline
Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline. Background: DEPDC5 mutations are…Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy
Objective: To describe the first case of Familial adult myoclonic epilepsy 3 (FAME3) due to intermediate intronic expansion of MARCHF6. Background: FAME is an autosomal…Genome-Wide Association Study revealing novel risk loci associated with Age at Onset of Parkinson’s Disease
Objective: This study aimed to determine single-nucleotide polymorphisms (SNPs) associated with AAO in Korean PD patients. Background: Age at onset (AAO) of Parkinson’s disease (PD)…Young-onset Parkinson’s disease in a female with pathogenic deletion of the PRRT2 gene
Objective: To report a novel case of young-onset Parksinon’s disease (YOPD) associated with a pathogenic deletion of the proline-rich transmembrane protein 2 gene (PRRT2). Background:…the role of the “unfolded protein response” and the perk pathway in parkinson’s disease: study of genetic polymorphisms
Objective: To study a possible association between polymorphisms of the genes coding for proteins involved in the UPR and the development of PD or PD…Frequency of LRRK2 p.L1795F variant in Parkinson’s Disease patients from Central Europe within the CEGEMOD consortium
Objective: The aim of this study was to investigate the presence of LRRK2 p.L1795F variant in PD patients from Central Europe. Background: Pathogenic variants in…Frequency of Variants of Uncertain Significance in a Cohort of Early-onset Parkinson’s Disease Patients
Objective: Aim of the study is to report the frequency of variants of uncertain significance (VUS) in a cohort of patients with early-onset Parkinson’s disease…