Variants associated with Gaucher disease in multiple system atrophy

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Variants associated with Gaucher disease in multiple system atrophy

OBJECTIVE Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case-control series. METHODS We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 ...

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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...

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Genetic 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 ...

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Differentiating multiple-system atrophy from Parkinson's disease.

The purpose of this review is to illustrate the differentiating features of multiple-system atrophy from Parkinson's disease at MRI. The various MRI sequences helpful in the differentiation will be discussed, including newer methods, such as diffusion tensor imaging, MR spectroscopy, and nuclear imaging.

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Identification of multiple rare variants associated with a disease

Identifying rare variants that are responsible for complex disease has been promoted by advances in sequencing technologies. However, statistical methods that can handle the vast amount of data generated and that can interpret the complicated relationship between disease and these variants have lagged. We apply a zero-inflated Poisson regression model to take into account the excess of zeros ca...

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ژورنال

عنوان ژورنال: Annals of Clinical and Translational Neurology

سال: 2015

ISSN: 2328-9503,2328-9503

DOI: 10.1002/acn3.185