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000276324 1001_ $$aAlefanti, Ioanna$$b0
000276324 245__ $$aThe novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
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000276324 520__ $$aThe p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.A30G (c.89 C>G) SNCA pathogenic variant in five affected individuals of three Greek families, leading to autosomal dominant PD. This study aims to further explore the presence and phenotypic expression of this variant in the Greek PD population.Restriction fragment length polymorphism (RFLPs) was used for genotyping of 664 Greek PD cases. Detailed clinical information was obtained for the carriers and p.A30G-positive samples underwent haplotype analysis.We identified 10 additional p.A30G-positive PD patients (1.5%), of whom 4 were sporadic cases (0.9%). They manifested typical Parkinsonian motor dysfunction, with a mean age of onset of 51.7 years (range: 33-62) and a broad spectrum of non-motor symptoms. The absence of affected first degree relatives in four out of ten index cases, and the presence of a phenocopy in an additional family, suggest that the p.A30G variant manifests reduced penetrance. The common haplotype among the p.A30G carriers confirmed a founder effect. Furthermore, two asymptomatic carriers were identified, with possible premotor manifestations.These findings underscore that the p.A30G SNCA pathogenic variant represents an important, albeit rare, cause of genetic PD in the Greek population. This is the first time in which a genetic synucleinopathy, with a variant in the SNCA gene, is clearly linked to an appreciable frequency of sporadic PD in a particular population.
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000276324 650_7 $$2Other$$aSNCA
000276324 650_7 $$2Other$$aGreek population
000276324 650_7 $$2Other$$aParkinson's disease
000276324 650_7 $$2Other$$ap.A30G
000276324 650_7 $$2NLM Chemicals$$aalpha-Synuclein
000276324 650_7 $$2NLM Chemicals$$aSNCA protein, human
000276324 650_2 $$2MeSH$$aHumans
000276324 650_2 $$2MeSH$$aalpha-Synuclein: genetics
000276324 650_2 $$2MeSH$$aParkinson Disease: genetics
000276324 650_2 $$2MeSH$$aGreece
000276324 650_2 $$2MeSH$$aMale
000276324 650_2 $$2MeSH$$aMiddle Aged
000276324 650_2 $$2MeSH$$aFemale
000276324 650_2 $$2MeSH$$aAdult
000276324 650_2 $$2MeSH$$aAged
000276324 650_2 $$2MeSH$$aPedigree
000276324 650_2 $$2MeSH$$aHaplotypes
000276324 650_2 $$2MeSH$$aGenetic Predisposition to Disease: genetics
000276324 7001_ $$00000-0001-5806-0717$$aKoros, Christos$$b1
000276324 7001_ $$aTsami, Viktoria$$b2
000276324 7001_ $$aSimitsi, Athina Maria$$b3
000276324 7001_ $$aKartanou, Chrisoula$$b4
000276324 7001_ $$aPapagiannakis, Nikolaos$$b5
000276324 7001_ $$aBozi, Maria$$b6
000276324 7001_ $$aAntonelou, Roubina$$b7
000276324 7001_ $$aManiati, Matina$$b8
000276324 7001_ $$0P:(DE-2719)2351249$$aHauser, Ann-Kathrin$$b9$$udzne
000276324 7001_ $$aVarvaressos, Stefanos$$b10
000276324 7001_ $$aBonakis, Anastasios$$b11
000276324 7001_ $$aLourentzos, Konstantinos$$b12
000276324 7001_ $$aMakrythanasis, Periklis$$b13
000276324 7001_ $$aPapageorgiou, Sokratis G$$b14
000276324 7001_ $$aProukakis, Christos$$b15
000276324 7001_ $$aPotagas, Constantinos$$b16
000276324 7001_ $$0P:(DE-2719)2320009$$aGasser, Thomas$$b17$$udzne
000276324 7001_ $$aKoutsis, Georgios$$b18
000276324 7001_ $$aKaradima, Georgia$$b19
000276324 7001_ $$aStefanis, Leonidas$$b20
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