Parkinsonism Associated with Twinkle Gene Mutation
Objective: To describe a rare manifestation of Twinkle gene mutation causing not only progressive external ophthalmoplegia (PEO), but also parkinsonism. Background: PEO is one of…A Patient with Overlapping SPG7 mutation and MERRF
Objective: To describe the first case of concomitant spastic paraplegia type 7 (SPG7) and myoclonic epilepsy with ragged red fibers (MERRF) in a patient with…Exome-wide and Mitogenome Sequencing of Indian Dystonia Patients
Objective: To identify whole exome and mitochondrial genome mutation spectrum of dystonia in India and to establish clinical significance of mutations by phenotype-genotype correlation. Background:…Association of Early and late age of onset with Mitochondrial DNA haplogroup in Indian Spinocerebellar Ataxia type- 2 patients.
Objective: To explore the role of mtHaplogroups in early and late onset SCA2 patients. Background: An unstable expansion of a CAG tract in the ATXN2…Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease
Objective: Our objective in this study was to elucidate the mechanisms underlying the release of mtDNA in cellular models of Parkin-associated Parkinson’s disease and to…Mitochondrial DNA copy number is associated with the severity of motor symptoms and dementia in Parkinson’s disease
Objective: We aimed to investigate the diagnostic and prognostic role of blood mitochondrial DNA copy number (mtDNA-CN) measured by whole genome sequencing (WGS) in relation…Multiple system atrophy mimicked by mitochondrial disease.
Objective: Characterized a case with A3243G mutation in mtDNA tRNALeu, a variant of mitochondrial disease; MELAS, which presents with atypical parkinsonism as Multiple system atrophy.…Parkin deficiency impairs mtDNA dynamics and propagates inflammation
Objective: We sought to explore Parkin’s role in (i) averting neuronal mtDNA dyshomeostasis/release and (ii) the activation of downstream inflammatory processes. Background: Mutations in Parkin…TWNK in Parkinson’s disease: a Movement Disorder and Mitochondrial Disease Center perspective study
Objective: The aim of the study was to screen for TWNK variants in an Italian cohort of Parkinson’s disease (PD) patients, and to assess the…Nanopore single-molecule sequencing to investigate mitochondrial DNA CpG methylation in Parkinson’s disease
Objective: Nanopore whole-genome sequencing of native DNA to investigate mitochondrial DNA (mtDNA) CpG methylation from patients with Parkinson’s disease (PD) and healthy controls. Background: PD…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.