The -synuclein gene in multiple system atrophy
نویسندگان
چکیده
منابع مشابه
Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy
BACKGROUND Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia and autonomic dysfunction. Pathogenic mechanisms remain obscure but the neuropathological hallmark is the presence of alpha-synuclein-immunoreactive glial cytoplasmic inclusions. Genetic variants of the alpha-synuclein gene, SNCA, are thus strong candidates for g...
متن کاملGenetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy
Background: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia and autonomic dysfunction. Pathogenic mechanisms remain obscure but the neuropathological hallmark is the presence of a-synuclein-immunoreactive glial cytoplasmic inclusions. Genetic variants of the a-synuclein gene, SNCA, are thus strong candidates for genetic ...
متن کاملMultiple system atrophy: genetic risks and alpha-synuclein mutations
Multiple system atrophy (MSA) is one of the few neurodegenerative disorders where we have a significant understanding of the clinical and pathological manifestations but where the aetiology remains almost completely unknown. Research to overcome this hurdle is gaining momentum through international research collaboration and a series of genetic and molecular discoveries in the last few years, w...
متن کامل[Susceptibility gene in multiple system atrophy (MSA)].
To elucidate molecular bases of multiple system atrophy (MSA), we first focused on recently identified MSA multiplex families. Though linkage analyses followed by whole genome resequencing, we have identified a causative gene, COQ2, for MSA. We then conducted comprehensive nucleotide sequence analysis of COQ2 of sporadic MSA cases and controls, and found that functionally deleterious COQ2 varia...
متن کاملAnalysis of the prion protein gene in multiple system atrophy
Neurodegenerative diseases are a very diverse group of disorders but they share some common mechanisms such as abnormally misfolded proteins with prion-like propagation and aggregation. Creutzfeldt-Jakob disease (CJD) is the most prevalent prion disease in humans. In the sporadic form of CJD the only known risk factor is the codon 129 polymorphism. Recent reports suggested that α-synuclein in m...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2006
ISSN: 0022-3050
DOI: 10.1136/jnnp.2005.073528