DJ-1 (PARK7) Heterozygous Mutation and Early-Onset Parkinson’s Disease: A Chilean Case Report and Literature Review
Objective: We report a Chilean patient with childhood-onset Parkinson’s disease (PD) carrying a single heterozygous PARK7 (DJ-1) mutation and review its clinical and pathophysiological relevance.…Clinical Features of dj1 Gene Mutation Causing Parkinson’s Disease from Single Institution
Objective: Describe a detailed clinical and genetic evaluation of patients with Parkinson's disease secondary to DJ1 gene mutation Background: Inherited Parkinson's disease (PD) represents 5-10%…Genetic study of early-onset Parkinson’s disease in the Malaysian population
Objective: This study aimed to investigate the genetic architecture of EOPD in a multi-ethnic Malaysian cohort. Background: About 5-10% of Parkinson’s disease (PD) cases are…Pathological findings in a case of DJ-1 early onset Parkinson’s disease
Objective: To report the postmortem findings in a case of early onset genetically confirmed DJ-1 (PARK7) PD. Background: As a very rare cause (1-2%) of…Multimodal imaging analysis of autosomal recessive Parkinson’s disease.
Objective: To explore whether autosomal recessive forms of monogenic PD (mPD) might lead to cortical and white matter (WM) abnormalities in addition to dopaminergic denervation.…Does autosomal recessive Parkinson’s Disease behave as “Brain-first” subtype?
Objective: The aim of this study is to explore whether monogenic PD (due to parkin or DJ-1 homozygous mutations) can be subtyped as "brain-first" by…Genetics Of Parkinson’s in India – Young Onset Parkinson’s Disease (GOPI-YOPD) : Genetics of Juvenile, Young and Early Onset Parkinson’s Disease
Objective: To determine the genetic and demographic patterns of juvenile-onset (JOPD, <20 years), young-onset (YOPD, 20-40 years), and early onset (EOPD, 40-50 years) Parkinson's disease…Evaluation of a double-target therapeutic in preclinical models of Parkinson’s disease
Objective: To evaluate the effectiveness of a candidate compound identified in a high-throughput screening (HTS) assay carried out in a Drosophila model of Parkinson’s disease…Metabolic alterations in a Drosophila model of Parkinson’s disease
Objective: Identification of metabolic alterations that could be contributing to Parkinson’s disease (PD) physiopathology and become new biomarkers or therapeutic targets for the disease. Background:…DJ1 and α-Synuclein as CSF biomarkers and gene polymorphisms: association with clinical parameters in Parkinson’s disease
Objective: To analyze the CSF α-Synuclein and DJ1 Biomarkers correlating with SNCA and DJ1 gene polymorphisms and clinical parameters in PD. Background: Currently there is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.