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…Laboratory changes of the liver function in the patients with Wilson’s disease
Objective: Wilson's disease (WD) is a chronic progressive neurodegenerative disease with a genetically determined disorder of copper metabolism due to mutations in the ATP7B gene,…Movement Disorder Presentations in Leukoenephalopathy with Calcifications and Cysts
Objective: The aim of this study is to describe the movement disorder phenotypes within a cohort of individuals with Leukoencephalopthy with Calcifications and Cysts. Background:…Tetradystonics patients may be misdiagnosed?
Objective: Present a case of movement disorder that genetic panel hasn’t tracked in the screening, and it’s stabilization with L-carnitine. Background: isobutyryl-CoA dehydrogenase deficiency is…Basal ganglia theta oscillation as a predictor of levodopa-induced dyskinesias
Objective: To investigate the temporal and spatial relationship between local field potential (LFP) changes and dyskinesia development. Background: Levodopa-induced dyskinesias (LID) are an important burden…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.