View in EDS HTML Full Text PDF Full Text

Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.

Saved in:
Bibliographic Details
Title: Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
Authors: Kose, Melis (AUTHOR), Kose, Engin (AUTHOR), Ünalp, Aycan (AUTHOR), Yılmaz, Ünsal (AUTHOR), Edizer, Selvinaz (AUTHOR), Tekin, Hande Gazeteci (AUTHOR), Karaoğlu, Pakize (AUTHOR), Özdemir, Taha Reşid (AUTHOR), Er, Esra (AUTHOR), Onay, Hüseyin (AUTHOR), Yildirim, Eser Sozmen (AUTHOR)
Source: Neurological Sciences. 2021, Vol. 42 Issue 3, p1103-1111. 9p. 2 Charts.
Subjects: Neuronal ceroid-lipofuscinosis, Genetic counseling, Congenital disorders, Genes, Inborn errors of metabolism
Geographic Terms: Turkey
Abstract: Introduction and purpose: Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL. Material and method: This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020. Results: A total of 14 patients were diagnosed with different types of NCL. Of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) Conclusion: This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature 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: 148565991
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Kose%2C+Melis%22">Kose, Melis</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kose%2C+Engin%22">Kose, Engin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ünalp%2C+Aycan%22">Ünalp, Aycan</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yılmaz%2C+Ünsal%22">Yılmaz, Ünsal</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Edizer%2C+Selvinaz%22">Edizer, Selvinaz</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tekin%2C+Hande+Gazeteci%22">Tekin, Hande Gazeteci</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Karaoğlu%2C+Pakize%22">Karaoğlu, Pakize</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Özdemir%2C+Taha+Reşid%22">Özdemir, Taha Reşid</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Er%2C+Esra%22">Er, Esra</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Onay%2C+Hüseyin%22">Onay, Hüseyin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yildirim%2C+Eser+Sozmen%22">Yildirim, Eser Sozmen</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. 2021, Vol. 42 Issue 3, p1103-1111. 9p. 2 Charts.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Neuronal+ceroid-lipofuscinosis%22">Neuronal ceroid-lipofuscinosis</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+counseling%22">Genetic counseling</searchLink><br /><searchLink fieldCode="DE" term="%22Congenital+disorders%22">Congenital disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink><br /><searchLink fieldCode="DE" term="%22Inborn+errors+of+metabolism%22">Inborn errors of metabolism</searchLink>
– Name: SubjectGeographic
  Label: Geographic Terms
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Turkey%22">Turkey</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Introduction and purpose: Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL. Material and method: This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020. Results: A total of 14 patients were diagnosed with different types of NCL. Of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) Conclusion: This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature 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=148565991
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s10072-021-05067-8
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 9
        StartPage: 1103
    Subjects:
      – SubjectFull: Neuronal ceroid-lipofuscinosis
        Type: general
      – SubjectFull: Genetic counseling
        Type: general
      – SubjectFull: Congenital disorders
        Type: general
      – SubjectFull: Genes
        Type: general
      – SubjectFull: Inborn errors of metabolism
        Type: general
      – SubjectFull: Turkey
        Type: general
    Titles:
      – TitleFull: Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kose, Melis
      – PersonEntity:
          Name:
            NameFull: Kose, Engin
      – PersonEntity:
          Name:
            NameFull: Ünalp, Aycan
      – PersonEntity:
          Name:
            NameFull: Yılmaz, Ünsal
      – PersonEntity:
          Name:
            NameFull: Edizer, Selvinaz
      – PersonEntity:
          Name:
            NameFull: Tekin, Hande Gazeteci
      – PersonEntity:
          Name:
            NameFull: Karaoğlu, Pakize
      – PersonEntity:
          Name:
            NameFull: Özdemir, Taha Reşid
      – PersonEntity:
          Name:
            NameFull: Er, Esra
      – PersonEntity:
          Name:
            NameFull: Onay, Hüseyin
      – PersonEntity:
          Name:
            NameFull: Yildirim, Eser Sozmen
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: 2021
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-print
              Value: 15901874
          Numbering:
            – Type: volume
              Value: 42
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Neurological Sciences
              Type: main
ResultId 1