View in EDS HTML Full Text PDF Full Text

The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.

Saved in:
Bibliographic Details
Title: The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
Authors: Alefanti, Ioanna (AUTHOR), Koros, Christos (AUTHOR), Tsami, Viktoria (AUTHOR), Simitsi, Athina Maria (AUTHOR), Kartanou, Chrisoula (AUTHOR), Papagiannakis, Nikolaos (AUTHOR), Bozi, Maria (AUTHOR), Antonelou, Roubina (AUTHOR), Maniati, Matina (AUTHOR), Hauser, Ann‐Kathrin (AUTHOR), Varvaressos, Stefanos (AUTHOR), Bonakis, Anastasios (AUTHOR), Lourentzos, Konstantinos (AUTHOR), Makrythanasis, Periklis (AUTHOR), Papageorgiou, Sokratis G. (AUTHOR), Proukakis, Christos (AUTHOR), Potagas, Constantinos (AUTHOR), Gasser, Thomas (AUTHOR), Koutsis, Georgios (AUTHOR), Karadima, Georgia (AUTHOR)
Source: European Journal of Neurology. Feb2025, Vol. 32 Issue 2, p1-10. 10p.
Subjects: Parkinson's disease, Genetic mutation, Gene expression, Genetic disorders, Genetic variation, Greeks
Abstract: Background: The 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. Methods: 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. Results: 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. Conclusions: 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. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 184019718
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Alefanti%2C+Ioanna%22">Alefanti, Ioanna</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koros%2C+Christos%22">Koros, Christos</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tsami%2C+Viktoria%22">Tsami, Viktoria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Simitsi%2C+Athina+Maria%22">Simitsi, Athina Maria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kartanou%2C+Chrisoula%22">Kartanou, Chrisoula</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Papagiannakis%2C+Nikolaos%22">Papagiannakis, Nikolaos</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bozi%2C+Maria%22">Bozi, Maria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Antonelou%2C+Roubina%22">Antonelou, Roubina</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Maniati%2C+Matina%22">Maniati, Matina</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hauser%2C+Ann‐Kathrin%22">Hauser, Ann‐Kathrin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Varvaressos%2C+Stefanos%22">Varvaressos, Stefanos</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bonakis%2C+Anastasios%22">Bonakis, Anastasios</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lourentzos%2C+Konstantinos%22">Lourentzos, Konstantinos</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Makrythanasis%2C+Periklis%22">Makrythanasis, Periklis</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Papageorgiou%2C+Sokratis+G%2E%22">Papageorgiou, Sokratis G.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Proukakis%2C+Christos%22">Proukakis, Christos</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Potagas%2C+Constantinos%22">Potagas, Constantinos</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gasser%2C+Thomas%22">Gasser, Thomas</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koutsis%2C+Georgios%22">Koutsis, Georgios</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Karadima%2C+Georgia%22">Karadima, Georgia</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Feb2025, Vol. 32 Issue 2, p1-10. 10p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Parkinson's+disease%22">Parkinson's disease</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Gene+expression%22">Gene expression</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+variation%22">Genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22Greeks%22">Greeks</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: The 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. Methods: 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. Results: 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. Conclusions: 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=184019718
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/ene.16562
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 10
        StartPage: 1
    Subjects:
      – SubjectFull: Parkinson's disease
        Type: general
      – SubjectFull: Genetic mutation
        Type: general
      – SubjectFull: Gene expression
        Type: general
      – SubjectFull: Genetic disorders
        Type: general
      – SubjectFull: Genetic variation
        Type: general
      – SubjectFull: Greeks
        Type: general
    Titles:
      – TitleFull: The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Alefanti, Ioanna
      – PersonEntity:
          Name:
            NameFull: Koros, Christos
      – PersonEntity:
          Name:
            NameFull: Tsami, Viktoria
      – PersonEntity:
          Name:
            NameFull: Simitsi, Athina Maria
      – PersonEntity:
          Name:
            NameFull: Kartanou, Chrisoula
      – PersonEntity:
          Name:
            NameFull: Papagiannakis, Nikolaos
      – PersonEntity:
          Name:
            NameFull: Bozi, Maria
      – PersonEntity:
          Name:
            NameFull: Antonelou, Roubina
      – PersonEntity:
          Name:
            NameFull: Maniati, Matina
      – PersonEntity:
          Name:
            NameFull: Hauser, Ann‐Kathrin
      – PersonEntity:
          Name:
            NameFull: Varvaressos, Stefanos
      – PersonEntity:
          Name:
            NameFull: Bonakis, Anastasios
      – PersonEntity:
          Name:
            NameFull: Lourentzos, Konstantinos
      – PersonEntity:
          Name:
            NameFull: Makrythanasis, Periklis
      – PersonEntity:
          Name:
            NameFull: Papageorgiou, Sokratis G.
      – PersonEntity:
          Name:
            NameFull: Proukakis, Christos
      – PersonEntity:
          Name:
            NameFull: Potagas, Constantinos
      – PersonEntity:
          Name:
            NameFull: Gasser, Thomas
      – PersonEntity:
          Name:
            NameFull: Koutsis, Georgios
      – PersonEntity:
          Name:
            NameFull: Karadima, Georgia
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: Feb2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 13515101
          Numbering:
            – Type: volume
              Value: 32
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: European Journal of Neurology
              Type: main
ResultId 1