Disease Characteristics of the First 100 Participants in the CurePSP Genetics Program Cohort
Objective: To increase our understanding of the pathogenesis of atypical parkinsonian disorders though genetics, and to build a cohort of individuals for future research. Background:…Analysis of the Association between SNCA Polymorphisms and the Risk of Multiple System Atrophy
Objective: To assess the impact of twenty-one single nucleotide polymorphisms (SNPs) located in different regulatory regions of the SNCA gene on the risk of developing…The Role of FGF14 GAA Repeat Expansions in Multiple System Atrophy: Frequency, Phenotypic Correlations, and Prognostic Implications
Objective: This study aimed to investigate the frequency of FGF14 GAA•TTC repeat expansion in clinically diagnosed and pathologically confirmed multiple system atrophy cases. Background: Partial…Pathogenic TBK1 Mutation Associated with Multiple System Atrophy-Like Phenotype
Objective: To report a novel case of an MSA-like phenotype in a patient with a pathogenic mutation in the TBK1 gene. Background: TANK-binding kinase 1…LRRK2 G2019S mutation in Multiple System Atrophy, a case report
Objective: Presenting a case of Multiple System Atrophy (MSA) confirmed by skin biopsy with a peculiar genetic profile. Background: MSA is a rare neurodegenerative disorder characterized…Heterozygous aprataxin gene mutation associated with atypical multiple system atrophy phenotype: a case report
Objective: We describe a 73-year old patient carrying a heterozygous mutation in aprataxin (APTX) gene presenting multiple system atrophy-parkinsonian variant (MSA-P). Background: Ataxia with oculomotor…A clinico-genetic study based on the Innsbruck MSA Registry
Objective: To assess family history (FH) for neurodegenerative disorders in people with multiple system atrophy (MSA), compare its prevalence with that of a prospectively recruited…Myelination relevant plasma microRNA biomarkers identified via an innovative data analytic scheme for differential diagnosis of MSA, an Oligodendroglial Synucleinopathy
Objective: To establish an inclusive data analytic scheme to identify and characterize plasma microRNA biomarkers with pathophysiological significance for differentiating the atypical Parkinsonian, Multiple System…Mosaicism for somatic SNCA copy number variants in multiple system atrophy is related to pathological subtype and presence of α-synuclein inclusions
Objective: To investigate the correlation of somatic copy number variants (CNVs) of the alpha-synuclein gene (SNCA) in multiple system atrophy (MSA) with disease subtype, and…The Lion’s tail family: A Bavarian multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson’s disease with dementia
Objective: To characterize a North-Bavarian (Lion’s tail region) six-generation pedigree, including neuropathologically confirmed multiple system atrophy and Parkinson’s disease with dementia. Background: Multiple system atrophy…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.