Expanding the canvas of PARKIN mutations and clinical phenotypes in familial and early onset Parkinson’s disease patients
Objective: To identify PARKIN mutations in PD patients with familial history (FPD) and early onset PD patients with no family history (EOPD; ≤50 years) and…A unique case of DAT positive Parkinson’s disease along with a mutable Huntington’s gene
Objective: The aim of this abstract is to report a unique case of DAT positive Parkinson’s disease with a mutable Huntington’s gene. Background: Huntington’s disease…Identification of gut microbial genes in Parkinson’s disease by shotgun metagenomic analysis
Objective: To carry out deep analysis on gut microbiome in patients with Parkinson’s disease (PD) and to evaluate the potential application for diagnosing PD patients…LRRK2 and GBA genetic mutations are not uncommon in an unselected Ashkenazi elderly cohort with PD
Objective: Analysis of positive LRRK2 and GBA gene mutations, demographic characteristics, and family history in 1200 consecutive Ashkenazi patients with PD who had genetic testing…Ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) -mediated ubiquitination attributed to localization of Mortalin to mitochondria
Objective: The pathogenic mechanism of UCHL1 in PD remains unclear. In this study, we aimed to investigate the role of UCHL1 in the pathogenesis of…Gaucher’s disease (GD) and Parkinsonism: An analysis from patients to relatives
Objective: To identify parkinsonian features in a cohort of GD patients and their relatives. Background: GD is a lysosomal storage disorder caused by GBA1 mutations…Early-onset Parkinson’s disease in seven patients with heterozygosity for parkin mutation
Objective: To present and discuss a series of 7 patients with early-onset Parkinson’s Disease and heterozygosity for PARK2 mutation. Background: Parkin mutation in homozygosity or…Early-onset parkinsonism and epilepsy: A Tunisian family carrying a novel SYNJ1 mutation
Objective: We report two siblings from a Tunisian family with juvenile Parkinsonism associated with tonic-clonic seizures and good response to levodopa therapy carrying a novel…Neuronal KIF5b deletion induces striatum-dependent locomotor impairments and defects in membrane presentation of dopamine D2 receptors
Objective: In this study we aim to elucidate the role of Kif5b motor subunit in the nigrostriatal pathway. We have generated different conditional knockout mice…SIRT1/AMPK pathway is involved in neuroprotective effects of resveratrol on MPTP-induced neuron loss
Objective: The present study was carried out to observe the neuroprotective effects of RV on MPTP-induced mouse model of PD, and explore its potential neuroprotective…
