POLG-Related Disease Mimicking Progressive Supranuclear Palsy with Selective Vertical Gaze Restriction
Objective: To describe a patient with a pathogenic POLG mutation presenting with sensory neuropathy, ataxia, recurrent falls, and supranuclear gaze palsy initially misdiagnosed as progressive…Adolescent-onset Myoclonus Dystonia in MT-ND6 m.14487T>C–Associated Leigh Syndrome
Objective: To describe the clinical and genetic features of an adolescent patient with MT-ND6-associated Leigh syndrome presenting with a prominent dystonia and myoclonus. Background: Leigh…Association of MT-ATP6 Polymorphisms with Increased Reactive Oxygen Species and Biomarker Alterations in Parkinson’s Disease
Objective: To evaluate the association between MT-ATP6 gene polymorphisms, oxidative stress, and biomarker alterations in PD patients from Indian populaiton Background: Mitochondrial dysfunction and oxidative…The Landscape of Movement Disorders in Mitochondrial Aminoacyl t-RNA Synthetase Disorders: A Case Series
Objective: To characterize the movement disorder spectrum in mitochondrial aminoacyl-tRNA synthetase (m-aaRS)defects. Background: m-aaRS disorders are an increasingly recognized genetic conditions demonstrating marked phenotypic pleiotropy,…Single-Neuron Analysis of Mitochondrial DNA Alterations and Respiratory Chain Dysfunction in Parkinson’s Disease
Objective: To investigate mitochondrial DNA (mtDNA) alterations in single neurons from Parkinson's disease (PD) brains and determine their relationship with respiratory chain deficiency. Background: Mitochondrial dysfunction,…Assessment of mitochondrial DNA copy number and common deletion (del4977) as candidate peripheral biomarkers for Spinocerebellar ataxia type 2
Objective: Assessing the relevance of mtDNA copy number (mtDNAcn) and its common deletion (del4977) as candidate peripheral biomarkers for Spinocerebellar ataxia type 2 (SCA2). Background:…The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…Quercetin Reduces mtDNA Release in PRKN-Deficient and Oxidatively Stressed SH-SY5Y Cells
Objective: This study investigates the role of Parkin deficiency in mitochondrial dysfunction and its contribution to mitochondrial DNA (mtDNA) release in Parkinson’s disease (PD). We…CSF Mitochondrial DNA Indicates Body Composition and Energy Metabolism in Parkinson’s Disease.
Objective: This study aimed to elucidate the associations between cerebrospinal fluid (CSF) cell-free mitochondrial DNA (cf-mtDNA) levels and body composition, nutritional status, and metabolic biomarkers…Association of Mitochondrial DNA Haplogroup and pS65-Ub Levels in Lewy Body Disease
Objective: To determine whether specific mitochondrial DNA (mtDNA) haplogroup(s) affect the level of p-S65-Ub as quantitative marker of mitochondrial damage in Lewy Body Disease. Background:…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.