Dorsal simultanagnosia as a cortical sign in the tauopathy spectrum
Objective: Clinical characterization of a tauopathy spectrum patient. Background: In recent years phenotypic overlap has been demonstrated between patients with progressive supranuclear palsy (PSP) pathology…FYN expression is associated with regulatory region genetic variation
Objective: The hypothesis of this investigation was that FYN expression and promoter activity are significantly influenced according to genetic content. The objective of this investigation…Clinical predictors of progressive supranuclear palsy (PSP) pathology in PSP syndrome
Objective: To elucidate specific clinical features of progressive supranuclear palsy (PSP) pathology in PSP syndrome. Background: PSP syndrome (PSPS) is the clinical hallmark of PSP;…Lovastatin protects neurite degeneration in LRRK2-G2019S parkinsonism through activating the Akt/Nrf pathway and inhibiting GSK3beta activity
Objective: To identify disease-modifying therapy for LRRK2-G2019S parkinsonism. Background: Leucine-rich repeat kinase 2 (LRRK2) is the most common genetic cause of Parkinson's disease (PD) without…Defining the pathology underlying cortico-basal syndrome: A European study
Objective: To understand how clinical and biological features can help us define and explain the varying pathology that underlies corticobasal syndrome (CBS). Background: Corticobasal degeneration…Low cerebrospinal fluid 3,4-dihydroxyphenylacetic acid and 3,4-dihydroxyphenylglycol levels are biomarkers of Parkinsonian disorders, including PSP
Objective: To assess whether Progressive Sopranuclear Palsy (PSP) patients show, in CSF an alteration of catecholamine metabolites. Background: It was reported previously that, consistent with…Allele specificity in neurodegenerative olfactory dysfunction
Objective: Assess olfactory dysfunction in carriers of the p.N279K and p.P301L MAPT mutations, which cause FTDP-17, to understand how genotypic differences contribute to the severity…Analysis of MAPT, GRN and C9orf72 genes in progressive supranuclear palsy, corticobasal syndrome and frontotemporal lobar degeneration in Russian population
Objective: To investigate MAPT variants and haplotypes, GRN mutations, and C9orf72 expansion in a cohort of Russian patients with progressive supranuclear palsy (PSP), cotricobasal syndrome…A pilot study of whole exome sequencing in progressive supranuclear palsy
Objective: To identify genetic variants associated with Progressive Supranuclear Palsy (PSP) using whole exome sequencing. Background: PSP is a rare tauopathy but is the second…High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.