WES analysis of Parkinson’s disease patients with Cancer
Objective: To provide evidences for the overlapping mechanistic basis between Parkinson's disease (PD) and cancer(CA), we explored the common genomic mechanisms between the two disease.…High rate of mutations in complex dystonia revealed by exome sequencing
Objective: This study aimed at identifying the missing genetic causes in dystonia without diagnosis following movement disorders gene panel sequencing. Background: Dystonia aetiologies are highly…A family of Phospholipase A2-associated neurodegeneration presented as complicated hereditary spastic paraplegia
Objective: To present reported two siblings of PLAN representing complicated HSP. Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of diseases characterized by…Longitudinal CSF-profile and brain pathology mirrors clinical course of LRRK2-Related Parkinson’s Disease
Objective: Do clinical cognitive profiles and CSF characterisitcs of Abeta1_42, total-tau, phospho-tau and alpha-synuclein during lifetime correspond to histopathological findings post-mortem in LRKK2-associated Parkinson’s disease…Intronic pentanucleotide TTTCA repeat insertions do not cause familial and sporadic cortical myoclonic tremor with epilepsy in the UK
Objective: To ascertain whether intronic TTTCA repeat insertions in the SAMD12, TNRC6Aand RAPGEF2 genes cause benign adult familial myoclonic epilepsy (BAFME) and progressive myoclonic epilepsy in the UK. Background:…Determining Outcome of Deep Brain Stimulation Surgery in Parkinson’s Disease Patients
Objective: To assess the role of monogenic forms of PD and polygenic risk scores (PRS) on the motor and cognitive outcome of deep brain stimulation…SLC6A4 repeat and single-nucleotide polymorphisms are associated with depression and rest tremor in Parkinson’s disease
Objective: The objective of the current study was to determine whether the SLC6A4 polymorphisms were associated with key motor and non-motor symptoms of PD. Background:…The longevity gene Klotho and its CSF protein profiles as modifier for Parkinson´s disease in a longitudinal study
Objective: Our objective was to evaluate phenotype modifying effects of variants in longevity genes in PD. Background: Parkinson´s disease (PD) has a large phenotypic variability,…The Sequelae of Kernicterus
Objective: To highlight the long- term sequelae of Kernicterus Background: Kernicterus refers to the clinical features of chronic bilirubin encephalopathy which if not treated can…Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10
Objective: Perform a comprehensive clinical characterization and biochemical cerebrospinal fluid (CSF) profile analyses in two Swedish families with hereditary spastic paraparesis 10 (SPG10) caused by…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.