NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy
Objective: To elucidate the genetic cause of a distinct combined dystonia syndrome, inherited in an autosomal recessive fashion in a small UK kindred [Figure1A]. Background:…Metabolomic biomarkers strongly differentiate PD from healthy controls (HCs) in BioFIND study* specimens
Objective: To determine if metabolomic analysis - untargeted profiling of small-molecule (<1.5 kDalton) biochemical constituents - can yield useful diagnostic biomarkers of PD using CSF…Neuroprotective effect of α-Mangostin in restoration mitochondrial function in MPTP-Induced Parkinson’s disease in mice
Objective: The aim of the present study was to explore the protective effect of alpha-mangostin against mitochondrial oxidative stress in MPTP treated mice. Background: It…Three cases of neuronal intranuclear inclusion disease (NIID)
Objective: Here, we present three NIID cases. One of them, autopsy was performed. Background: Neuronal intranuclear inclusion disease (NIID)(OMIM 603472) is a neurodegenerative disorder characterized…Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea
Objective: Progressive leukoencephalopathy with primary ovarian failure (LKENP; OMIM # 615889) is a novel ovario-leukodystophy caused by compound heterozygote mutations in the AARS2 gene of…Genetic analysis of CHCHD2 gene in Parkinson’s disease in a Taiwanese population
Objective: To evaluate the genetic mutations of CHCHD2 gene in Taiwanese Parkinson's disease patients. Background: A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain–containing…Protective effects of ATP13A2 in Parkinson’s disease models
Objective: Decipher the role of ATP13A2 in Parkinson's disease. Background: ATP13A2 is a lysosomal P-type ATPase with significant implications in Parkinson's disease (PD). Little is…Mitochondrial dysfunction in skin fibroblasts from single heterozygous ATP13A2 (PARK9) mutation carriers
Objective: To investigate the pathogenic effect of single heterozygous mutations in ATP13A2, we determined the function and morphological changes of mitochondria in skin fibroblasts derived…Counteracting PINK1/parkin deficiency by activating alternative mitophagic pathway: a potential therapeutic intervention for Parkinson’s disease
Objective: To identify a new therapeutic target for developing neuroprotective treatment in Parkinson's disease (PD) by improving mitochondrial function through restoration of mitochondrial quality control…Astroglia exert a neuro-protective role in Parkinson’s disease by reducing oxygen stress through dopamine-induced activation of the pentose-phosphate pathway
Objective: Although dopaminergic neurons themselves take up most of the released dopamine (DA), a part of the DA appears to be taken up by astroglia.…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.