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dc.contributor.authorJunttila, A
dc.contributor.authorKuvaja, M
dc.contributor.authorHartikainen, P
dc.contributor.authorSiloaho, M
dc.contributor.authorHelisalmi, S
dc.contributor.authorMoilanen, V
dc.contributor.authorKiviharju, A
dc.contributor.authorJansson, L
dc.contributor.authorTienari, PJ
dc.contributor.authorRemes, AM
dc.contributor.authorHerukka, SK
dc.date.accessioned2016-10-12T10:50:19Z
dc.date.available2016-10-12T10:50:19Z
dc.date.issued2016
dc.identifierhttp://doi.org/10.1159/000444788fi_FI
dc.identifier.citationJunttila, A., Kuvaja, M., Hartikainen, P., Siloaho, M., Helisalmi, S., Moilanen, V., … Herukka, S.-K. (2016). Cerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion. Dementia and Geriatric Cognitive Disorders EXTRA, 6(1), 142–149. http://doi.org/10.1159/000444788fi_FI
dc.identifier.issn1664-5464
dc.identifier.urihttps://erepo.uef.fi/handle/123456789/158
dc.descriptionArticle
dc.description.abstractBackground TDP-43 is the main protein component of ubiquitinated inclusions in a subgroup of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) patients. The C9ORF72 hexanucleotide expansion is one of the main mutations associated with TDP-43 pathology in FTLD and ALS. Our aim was to analyze cerebrospinal fluid (CSF) TDP-43 levels and Alzheimer's disease biomarkers in FTLD and ALS patients and to test whether the C9ORF72 expansion carrier status affects these variables. Methods The patient cohort consisted of 90 clinically well-characterized FTLD (n = 69) and ALS (n = 21) patients. There were 30 patients with the C9ORF72 expansion and 60 patients without the expansion. CSF TDP-43, AΒ1-42, t-tau, and phospho-tau levels were measured using commercial ELISA kits. Results There was no difference in CSF TDP-43 levels between the C9ORF72 expansion carriers and the noncarriers. CSF TDP-43 levels were higher in ALS patients than in FTLD patients, and this finding was independent of the C9ORF72 expansion carrier status. Males had significantly higher TDP-43 levels than females (p = 0.008 in the total cohort). Conclusion CSF TDP-43 does not seem to distinguish the C9ORF72 expansion carriers from noncarriers. However, higher CSF TDP-43 levels were detected in ALS than in FTLD, which might be an indicator of a more rapid progression of TDP-43 pathology in ALS.fi_FI
dc.language.isoENfi_FI
dc.publisherS.Karger AGfi_FI
dc.relation.ispartofseriesDEMENTIA AND GERIATRIC COGNITIVE DISORDERS
dc.relation.urihttp://doi.org/10.1159/000444788fi_FI
dc.rightsCC BY-NC-ND https://creativecommons.org/licenses/by-nc-nd/4.0/fi_FI
dc.subjectFrontotemporal lobar degenerationfi_FI
dc.subjectFrontotemporal dementiafi_FI
dc.subjectAmyotrophic lateral sclerosisfi_FI
dc.subjectTDP-43fi_FI
dc.subjectCerebrospinal fluidfi_FI
dc.subjectC9ORF72fi_FI
dc.subjectBiomarkerfi_FI
dc.subjectELISAfi_FI
dc.titleCerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansionfi_FI
dc.typehttp://purl.org/eprint/type/JournalArticle
dc.rights.licenseLicensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND)
dc.description.versionPublisher's pdffi_FI
dc.contributor.departmentFaculty of Health Sciences
dc.contributor.departmentSchool of Medicine / Clinical Medicine
uef.solecris.id41377415
eprint.statushttp://purl.org/eprint/status/PeerReviewedfi_FI
dc.type.publicationinfo:eu-repo/semantics/article
dc.rights.accessrights© Authors
dc.relation.doi10.1159/000444788
dc.description.reviewstatushttp://purl.org/eprint/status/PeerReviewed
dc.format.pagerange142-149
dc.relation.issn1664-5464
dc.relation.issue1
dc.relation.volume6


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