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…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…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.…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.