Characterizing the Bcl-2 Associated Athanogene 5 Interactome
Objective: Characterizing the Bcl-2 Associated Athanogene 5 (BAG5) interactome will uncover the molecular pathways with which BAG5 associates and further elucidate its role in dopaminergic…Development of nano-formulation containing crocetin for the protective and beneficial effect against 6-hydroxydopamine induced Parkinson’s disease model via altered the genetic backgrounds
Objective: Parkinson’s disease (PD) induced by the interaction between the number of factors viz., aging, genetics toxins, mitochondrial deformity and oxidative stress. Various evidences suggest…Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant
Objective: Describe a family with brain calcifications related to new pathogenic variant of SLC20A2 gene. Background: Three genes are associated with the rare occurrence of autosomal…Antisense FMR1 splice variant and loss of AGG interruptions are predictors of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To evaluate the role of splice patterns of the antisense FMR1 (ASFMR) gene in Fragile X-associated tremor/ataxia syndrome (FXTAS) Background: FXTAS is an inherited…Familial Parkinson’s disease in the Province of Quebec
Objective: We describe clinical, genealogic and genetic studies in several families with multi-incident Parkinson's disease (PD). Background: PD is a multifactorial trait for which components…Characterisation of the A30P mutation in alpha-synuclein gene in patient-derived cellular model of Parkinson’s disease
Objective: In this study, we aim to generate and characterise patient-derived midbrain dopaminergic neurons (mDANs) of the A30P Parkinson's disease (PD) familial case. Our goal…Parkinson’s disease-associated Miro1 mutants cause mitochondrial dysfunction
Objective: In the present study we dissected the role of the first PD-associated mutations in RhoT1, the gene encoding for Miro1. Background: Commonly involved pathogenic…Spinocerebellar ataxia 17: First observation in Russia
Objective: To report the detection of the first case of spinocerebellar ataxia 17 in Russian population. Background: Autosomal dominant spinocerebellar ataxias (AD SCAs) are clinically…Communication and language skills in Huntington’s disease
Objective: To characterize the language and communication abilities of HD patients as reflected in tasks involving naming, verbal fluency, working memory and pragmatics. Background: Huntington's…Emotional facial EMG responses are affected in Huntington’s disease
Objective: The aim of this study was to investigate emotional facial muscle responses in Huntington's Disease (HD). We examined induced experience-related responses when viewing emotional…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.