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…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…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…Mutation analysis of BSN gene in patients with multiple system atrophy
Objective: To investigate the mutations of the BSN gene in patients with multiple system atrophy (MSA). Background: We have reported some mutations in the bassoon…Methylation status of SNCA gene in multiple system atrophy and Parkinson’s disease
Objective: Parkinson’s disease (PD) and multiple system atrophy (MSA) are classical synucleinopathies caused by misfolding of alpha-synuclein protein. Clinical picture of PD and MSA in…Association analysis between SCNN1A rs10849446, SPTLC3 rs6041636 and rs627354 and Parkinson’s disease and multiple system atrophy in a large Chinese population
Objective: Considering the overlap in clinical manifestations, genetic findings and pathological hallmark between PD and MSA, we aimed to study the association between these 3…A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel/Crohn’s disease
Objective: The aim of this study to understand and define genetic overlap between multiple system atrophy (MSA) and autoimmune diseases such as Crohn’s disease (CD),…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.