ArticleClinical autonomic research : official journal of the Clinical Autonomic Research Society2014
SHC2 gene copy number in multiple system atrophy (MSA).
Article in Clinical autonomic research : official journal of the Clinical Autonomic Research Society, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 31 citations in OpenAlex.
- In vivo validation of late-onset Alzheimer's disease genetic risk factors.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- The potential of phosphorylated α-synuclein as a biomarker for the diagnosis and monitoring of multiple system atrophy.CNS neuroscience & therapeutics · 2024Review
- Article
- Multiple system atrophy.Nature reviews. Disease primers · 2022Review
- Heterogeneity of Multiple System Atrophy: An Update.Biomedicines · 2022Review
- A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson's disease with dementia.Brain communications · 2022Article
- Article
- Multiple system atrophy - a clinicopathological update.Free neuropathology · 2020Article
- Induced pluripotent stem cells in multiple system atrophy: recent developments and scientific challenges.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2019Review
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
- Cross-examining candidate genes implicated in multiple system atrophy.Acta neuropathologica communications · 2019Review
- Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.Scientific reports · 2019Article
- MicroRNAs Dysregulation and Metabolism in Multiple System Atrophy.Frontiers in neuroscience · 2019Review
- Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1.Journal of Alzheimer's disease : JAD · 2018Review
- Genomic copy number variation analysis in multiple system atrophy.Molecular brain · 2017Article
- Multiple system atrophy: pathogenic mechanisms and biomarkers.Journal of neural transmission (Vienna, Austria : 1996) · 2016Review
- Multiple system atrophy: the application of genetics in understanding etiology.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2015Review
- Multiple system atrophy: genetic or epigenetic?Experimental neurobiology · 2014Review
- Analysis of COQ2 gene in multiple system atrophy.Molecular neurodegeneration · 2014Article
- The neurogenetics of atypical parkinsonian disorders.Seminars in neurology · 2014Review
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
purposeMultiple system atrophy (MSA) is a sporadic, late onset, rapidly progressing neurodegenerative disorder, which is characterized by autonomic failure, together with Parkinsonian, cerebellar, and pyramidal motor symptoms. The pathologic hallmark is the glial cytoplasmic inclusion with α-synuclein aggregates. MSA is thus an α-synucleinopathy. Recently, Sasaki et al. reported that heterozygosity for copy number loss of Src homology 2 domain containing-transforming protein 2 (SHC2) genes (heterozygous SHC2 gene deletions) occurred in DNAs from many Japanese individuals with MSA. Because background copy number variation can be distinct in different human populations, we assessed SHC2 allele copy number in DNAs from a US cohort of individuals with MSA, to determine the contribution of SHC2 gene copy number variation in an American cohort followed at a US referral center for MSA. Our cohort included 105 carefully phenotyped individuals with MSA.
methodsWe studied 105 well-characterized patients with MSA and 5 control subjects with reduced SHC2 gene copy number. We used two TaqMan Gene Copy Number Assays, to determine the copy number of two segments of the SHC2 gene that are separated by 27 kb.
resultsAssay results of DNAs from all of our 105 subjects with MSA showed 2 copies of both segments of their SHC2 genes.
conclusionOur results indicate that SHC2 gene deletions underlie few, if any, cases of well-characterized MSA in the US population. This is in contrast to the Japanese experience reported by Sasaki et al., likely reflecting heterogeneity of the disease in different genetic backgrounds.
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