View in EDS HTML Full Text PDF Full Text

Association of APOE genotype and cerebrospinal fluid Aβ and tau biomarkers with cognitive and motor phenotype in amyotrophic lateral sclerosis.

Saved in:
Bibliographic Details
Title: Association of APOE genotype and cerebrospinal fluid Aβ and tau biomarkers with cognitive and motor phenotype in amyotrophic lateral sclerosis.
Authors: Maranzano, Alessio (AUTHOR), Verde, Federico (AUTHOR), Dubini, Antonella (AUTHOR), Torre, Silvia (AUTHOR), Colombo, Eleonora (AUTHOR), Doretti, Alberto (AUTHOR), Gentile, Francesco (AUTHOR), Manini, Arianna (AUTHOR), Milone, Ilaria (AUTHOR), Brusati, Alberto (AUTHOR), Peverelli, Silvia (AUTHOR), Santangelo, Serena (AUTHOR), Spinelli, Edoardo Gioele (AUTHOR), Torresani, Erminio (AUTHOR), Gentilini, Davide (AUTHOR), Messina, Stefano (AUTHOR), Morelli, Claudia (AUTHOR), Poletti, Barbara (AUTHOR), Agosta, Federica (AUTHOR), Ratti, Antonia (AUTHOR)
Source: European Journal of Neurology. Sep2024, Vol. 31 Issue 9, p1-13. 13p.
Subjects: Genetic risk score, Tau proteins, Amyotrophic lateral sclerosis, Alzheimer's disease, Chemiluminescence immunoassay
Abstract: Objective: Little is known about amyotrophic lateral sclerosis (ALS)‐nonspecific cognitive deficits – most notably memory disturbance – and their biological underpinnings. We investigated the associations of the Alzheimer's disease (AD) genetic risk factor APOE and cerebrospinal fluid (CSF) biomarkers Aβ and tau proteins with cognitive and motor phenotype in ALS. Methods: APOE haplotype was determined in 281 ALS patients; for 105 of these, CSF levels of Aβ42, Aβ40, total tau (T‐tau), and phosphorylated tau (P‐tau181) were quantified by chemiluminescence enzyme immunoassay (CLEIA). The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) was employed to evaluate the neuropsychological phenotype. Results: APOE‐E4 allele was associated with worse ECAS memory score (median, 14.0 in carriers vs. 16.0 in non‐carriers) and lower CSF Aβ42 (−0.8 vs. 0.1, log‐transformed values) and Aβ42/40 ratio (−0.1 vs. 0.3). Some 37.1% of ALS patients showed low Aβ42 levels, possibly reflecting cerebral Aβ deposition. While lower Aβ42/40 correlated with lower memory score (β = 0.20), Aβ42 positively correlated with both ALS‐specific (β = 0.24) and ALS‐nonspecific (β = 0.24) scores. Although Aβ42/40 negatively correlated with T‐tau (β = −0.29) and P‐tau181 (β = −0.33), we found an unexpected positive association of Aβ42 and Aβ40 with both tau proteins. Regarding motor phenotype, lower levels of Aβ species were associated with lower motor neuron (LMN) signs (Aβ40: β = 0.34; Aβ42: β = 0.22). Conclusions: APOE haplotype and CSF Aβ biomarkers are associated with cognitive deficits in ALS and particularly with memory impairment. This might partly reflect AD‐like pathophysiological processes, but additional ALS‐specific mechanisms could be involved. [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: 178813960
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Association of APOE genotype and cerebrospinal fluid Aβ and tau biomarkers with cognitive and motor phenotype in amyotrophic lateral sclerosis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Maranzano%2C+Alessio%22">Maranzano, Alessio</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Verde%2C+Federico%22">Verde, Federico</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dubini%2C+Antonella%22">Dubini, Antonella</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Torre%2C+Silvia%22">Torre, Silvia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Colombo%2C+Eleonora%22">Colombo, Eleonora</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Doretti%2C+Alberto%22">Doretti, Alberto</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gentile%2C+Francesco%22">Gentile, Francesco</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Manini%2C+Arianna%22">Manini, Arianna</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Milone%2C+Ilaria%22">Milone, Ilaria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Brusati%2C+Alberto%22">Brusati, Alberto</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Peverelli%2C+Silvia%22">Peverelli, Silvia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Santangelo%2C+Serena%22">Santangelo, Serena</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Spinelli%2C+Edoardo+Gioele%22">Spinelli, Edoardo Gioele</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Torresani%2C+Erminio%22">Torresani, Erminio</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gentilini%2C+Davide%22">Gentilini, Davide</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Messina%2C+Stefano%22">Messina, Stefano</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Morelli%2C+Claudia%22">Morelli, Claudia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Poletti%2C+Barbara%22">Poletti, Barbara</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Agosta%2C+Federica%22">Agosta, Federica</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ratti%2C+Antonia%22">Ratti, Antonia</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Sep2024, Vol. 31 Issue 9, p1-13. 13p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Genetic+risk+score%22">Genetic risk score</searchLink><br /><searchLink fieldCode="DE" term="%22Tau+proteins%22">Tau proteins</searchLink><br /><searchLink fieldCode="DE" term="%22Amyotrophic+lateral+sclerosis%22">Amyotrophic lateral sclerosis</searchLink><br /><searchLink fieldCode="DE" term="%22Alzheimer's+disease%22">Alzheimer's disease</searchLink><br /><searchLink fieldCode="DE" term="%22Chemiluminescence+immunoassay%22">Chemiluminescence immunoassay</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Objective: Little is known about amyotrophic lateral sclerosis (ALS)‐nonspecific cognitive deficits – most notably memory disturbance – and their biological underpinnings. We investigated the associations of the Alzheimer's disease (AD) genetic risk factor APOE and cerebrospinal fluid (CSF) biomarkers Aβ and tau proteins with cognitive and motor phenotype in ALS. Methods: APOE haplotype was determined in 281 ALS patients; for 105 of these, CSF levels of Aβ42, Aβ40, total tau (T‐tau), and phosphorylated tau (P‐tau181) were quantified by chemiluminescence enzyme immunoassay (CLEIA). The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) was employed to evaluate the neuropsychological phenotype. Results: APOE‐E4 allele was associated with worse ECAS memory score (median, 14.0 in carriers vs. 16.0 in non‐carriers) and lower CSF Aβ42 (−0.8 vs. 0.1, log‐transformed values) and Aβ42/40 ratio (−0.1 vs. 0.3). Some 37.1% of ALS patients showed low Aβ42 levels, possibly reflecting cerebral Aβ deposition. While lower Aβ42/40 correlated with lower memory score (β = 0.20), Aβ42 positively correlated with both ALS‐specific (β = 0.24) and ALS‐nonspecific (β = 0.24) scores. Although Aβ42/40 negatively correlated with T‐tau (β = −0.29) and P‐tau181 (β = −0.33), we found an unexpected positive association of Aβ42 and Aβ40 with both tau proteins. Regarding motor phenotype, lower levels of Aβ species were associated with lower motor neuron (LMN) signs (Aβ40: β = 0.34; Aβ42: β = 0.22). Conclusions: APOE haplotype and CSF Aβ biomarkers are associated with cognitive deficits in ALS and particularly with memory impairment. This might partly reflect AD‐like pathophysiological processes, but additional ALS‐specific mechanisms could be involved. [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=178813960
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/ene.16374
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 13
        StartPage: 1
    Subjects:
      – SubjectFull: Genetic risk score
        Type: general
      – SubjectFull: Tau proteins
        Type: general
      – SubjectFull: Amyotrophic lateral sclerosis
        Type: general
      – SubjectFull: Alzheimer's disease
        Type: general
      – SubjectFull: Chemiluminescence immunoassay
        Type: general
    Titles:
      – TitleFull: Association of APOE genotype and cerebrospinal fluid Aβ and tau biomarkers with cognitive and motor phenotype in amyotrophic lateral sclerosis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Maranzano, Alessio
      – PersonEntity:
          Name:
            NameFull: Verde, Federico
      – PersonEntity:
          Name:
            NameFull: Dubini, Antonella
      – PersonEntity:
          Name:
            NameFull: Torre, Silvia
      – PersonEntity:
          Name:
            NameFull: Colombo, Eleonora
      – PersonEntity:
          Name:
            NameFull: Doretti, Alberto
      – PersonEntity:
          Name:
            NameFull: Gentile, Francesco
      – PersonEntity:
          Name:
            NameFull: Manini, Arianna
      – PersonEntity:
          Name:
            NameFull: Milone, Ilaria
      – PersonEntity:
          Name:
            NameFull: Brusati, Alberto
      – PersonEntity:
          Name:
            NameFull: Peverelli, Silvia
      – PersonEntity:
          Name:
            NameFull: Santangelo, Serena
      – PersonEntity:
          Name:
            NameFull: Spinelli, Edoardo Gioele
      – PersonEntity:
          Name:
            NameFull: Torresani, Erminio
      – PersonEntity:
          Name:
            NameFull: Gentilini, Davide
      – PersonEntity:
          Name:
            NameFull: Messina, Stefano
      – PersonEntity:
          Name:
            NameFull: Morelli, Claudia
      – PersonEntity:
          Name:
            NameFull: Poletti, Barbara
      – PersonEntity:
          Name:
            NameFull: Agosta, Federica
      – PersonEntity:
          Name:
            NameFull: Ratti, Antonia
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: Sep2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 13515101
          Numbering:
            – Type: volume
              Value: 31
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: European Journal of Neurology
              Type: main
ResultId 1