Optic atrophy and parkinsonism in a family associated with OPA1 mutation
Objective: To report a Taiwanese family with a heterozygous missense mutation of OPA1 gene (NM_130836, p.Ser582Arg) presenting with optic atrophy and parkinsonism and establish an…Loss of CHCHD2 and CHCHD10 disrupts mitochondrial cristae phenocopying patient mutations
Objective: Characterization of novel of a novel CHCHD2 (C2) and CHCHD10 (C10) knockout mouse model. Background: Dominant mutations in the mitochondrial paralogs CHCHD2 (C2) and…The interaction of Parkin and TAF15 for the Drosophila in which neuronal defect was induced
Objective: Our study proposes a novel regulator for the protection of TAF15-induced proteinopathy and adds to our understanding of the exact pathogenic mechanism for TAF15-induced…The UP study – Ursodeoxycholic acid (UDCA) as neuroprotective treatment for Parkinson’s disease
Objective: To determine the safety and tolerability of ursodeoxycholic acid (UDCA) in Parkinson’s disease (PD) and explore its neuroprotective potential. Background: We previously undertook the…Early onset parkinsonism and optic atrophy due to SLC25A46 mutations
Objective: To define the genetic background of a case affected by parkinsonism with optic atrophy. Background: Mutations in SLC25A46 have been recently described as causative…Digenic inheritance of WARS2 and CHRNA6 mutations in infantile parkinsonism
Objective: To provide evidence of digenic inheritance in infantile parkinsonism. Background: Oligogenic inheritance has been demonstrated in PD[1],where patients with a primary genetic cause can…Detecting unsuspected mitochondrial disease: an algorithmic approach
Objective: To present an algorithmic approach to the diagnosis of mitochondrial disease for clinical neurologists Background: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome)…Inhibition of mitochondrial complexes induces unique transcriptomic and epigenetic profiles: implications to neurodegeneration induced movement disorders
Objective: To compare the neurotoxicological hallmarks induced by inhibitors of mitochondrial complex I (CI- 1- methyl-4- phenylpyridinium; MPP+), complex II (CII- 3- nitropropionic acid; 3-…Tissue Engineered Nigrostriatal Pathway as an Anatomically-Inspired Test-Bed for Evaluating Axonal Pathophysiology
Objective: We previously developed the first micro-tissue engineered nigrostriatal pathway encased in a tubular hydrogel with 3D structure, multicellular composition, and architecture of long axonal…Challenging mitochondria in idiopathic Parkinson‘s disease fibroblasts
Objective: Evaluate mitochondrial integrity in cultivated fibroblasts of patients with idiopathic Parkinson’s disease (IPD) and healthy controls (HC). Background: Mitochondrial dysfunction (MD) is considered an…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.