Reply: Lysosomal storage disorder gene variants in multiple system atrophy
نویسندگان
چکیده
منابع مشابه
[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...
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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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OBJECTIVE Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis. METHODS We performed a genetic analysis of four LSD genes including GBA, HEXA, SMPD1, and MCOLN1 in 231 brain autopsies. Brain autopsies included neuropathologically defined LBD without Alzheimer Disea...
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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 ...
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ژورنال
عنوان ژورنال: Brain
سال: 2018
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awy125