Article

SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Annals of Neurology (Impact Factor: 11.91). 05/2009; 65(5):610-4. DOI: 10.1002/ana.21685
Source: PubMed

ABSTRACT To test whether the synucleinopathies Parkinson's disease and multiple system atrophy (MSA) share a common genetic etiology, we performed a candidate single nucleotide polymorphism (SNP) association study of the 384 most associated SNPs in a genome-wide association study of Parkinson's disease in 413 MSA cases and 3,974 control subjects. The 10 most significant SNPs were then replicated in additional 108 MSA cases and 537 controls. SNPs at the SNCA locus were significantly associated with risk for increased risk for the development of MSA (combined p = 5.5 x 10(-12); odds ratio 6.2) [corrected].

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Available from: Reema Paudel, Aug 16, 2015
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    • "So far, no SNCA mutations were reported for MSA, while a MSA-like phenotype was described in one case with SNCA duplication (Fuchs et al., 2007). Several polymorphisms at the SNCA locus were linked to both idiopathic PD and MSA (Al-Chalabi et al., 2009; Nalls et al., 2011; Scholz et al., 2009). Additional polymorphisms of the tau gene and others were identified for PD, but not for MSA which could either be related to different pathogenesis or to the insufficient power of the MSA studies due to the small number of included patients. "
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    Neurobiology of Disease 07/2014; 67. DOI:10.1016/j.nbd.2014.03.021 · 5.20 Impact Factor
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    • "MSA is rarely familial (Soma et al., 2006) and mutations in a-synuclein have not been observed (Ozawa et al., 2006). However , polymorphisms in the synuclein gene may influence susceptibility to MSA (Al-Chalabi et al., 2009; Scholz et al., 2009). "
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    • "Some cases with disease-causing mutations in SNCA exhibit neuropathological characteristics of both PD and MSA [27] [28] [29] [30]. Sequence variation in SNCA is a risk factor for MSA, which is largely a sporadic disease [31] [32]. It follows that therapies targeting the abnormal aggregation of α-synuclein are also likely to be effective in MSA. "
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