Association study between multiple system atrophy and TREM2 p.R47H
نویسندگان
چکیده
منابع مشابه
A genome-wide association study in multiple system atrophy
OBJECTIVE To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). METHODS We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European cen...
متن کامل[Multiple system atrophy and autophagy].
Macroautophagy is a dynamic process whereby cytoplasmic molecules are sequestered within autophagosomes. There exist two groups of mammalian autophagy-related gene (Atg) 8 homologues (LC3 and GABARAPs), which play essential role in autophagosomal formation. We determined whether Atg8 homologues are affected in Lewy body disease (LBD) and multiple system atrophy (MSA). The level of LC3 was incre...
متن کاملMultiple system atrophy.
Multiple system atrophy (MSA) is an adult-onset sporadic progressive neurodegenerative disorder of unknown etiology. It is clinically characterized by the variable combination of autonomic failure, parkinsonism, cerebellar ataxia, and pyramidal signs. The present review summarizes up-to-date knowledge on the clinical diagnosis and molecular pathology of MSA. We also review the role of additiona...
متن کاملMultiple system atrophy.
Multiple system atrophy is a neurological disorder that has gone unrecognized for too long due to its involvement across multiple regions of the central nervous system. This disorder is finally being unveiled through increased reporting in the scientific literature. Further research will enhance our understanding of this disease and lead to more effective treatment regimens as well as an improv...
متن کاملMultiple system atrophy.
Although the precise definition of multiple system atrophy has been difficult, a recent consensus in diagnostic criteria for multiple system atrophy has been achieved. This should lead to progress in defining the underlying pathophysiology of the neuroendocrine, autonomic and motor deficits characteristic of multiple system atrophy. Hopefully, these developments will lead to effective treatment.
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2018
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000257