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dc.contributor.authorKorhonen, VE
dc.contributor.authorHelisalmi, S
dc.contributor.authorJokinen, A
dc.contributor.authorJokinen, I
dc.contributor.authorLehtola, JM
dc.contributor.authorOinas, M
dc.contributor.authorLönnrot, K
dc.contributor.authorAvellan, C
dc.contributor.authorKotkansalo, A
dc.contributor.authorFrantzen, J
dc.contributor.authorRinne, J
dc.contributor.authorRonkainen, A
dc.contributor.authorKauppinen, M
dc.contributor.authorJunkkari, A
dc.contributor.authorHiltunen, M
dc.contributor.authorSoininen, H
dc.contributor.authorKurki, M
dc.contributor.authorJääskeläinen, JE
dc.contributor.authorKoivisto, AM
dc.contributor.authorSato, H
dc.contributor.authoret al
dc.date.accessioned2019-01-14T13:23:23Z
dc.date.available2019-01-14T13:23:23Z
dc.date.issued2018
dc.identifier.urihttps://erepo.uef.fi/handle/123456789/7295
dc.description.abstractObjective To evaluate the role of the copy number loss in SFMBT1 in a Caucasian population. Methods Five hundred sixty-seven Finnish and 377 Norwegian patients with idiopathic normal pressure hydrocephalus (iNPH) were genotyped and compared with 508 Finnish elderly, neurologically healthy controls. The copy number loss in intron 2 of SFMBT1 was determined using quantitative PCR. Results The copy number loss in intron 2 of SFMBT1 was detected in 10% of Finnish (odds ratio [OR] = 1.9, p = 0.0078) and in 21% of Norwegian (OR = 4.7, p < 0.0001) patients with iNPH compared with 5.4% in Finnish controls. No copy number gains in SFMBT1 were detected in patients with iNPH or healthy controls. The carrier status did not provide any prognostic value for the effect of shunt surgery in either population. Moreover, no difference was detected in the prevalence of hypertension or T2DM between SFMBT1 copy number loss carriers and noncarriers. Conclusions This is the largest and the first multinational study reporting the increased prevalence of the copy number loss in intron 2 of SFMBT1 among patients with iNPH, providing further evidence of its role in iNPH. The pathogenic role still remains unclear, requiring further study.
dc.language.isoenglanti
dc.publisherOvid Technologies (Wolters Kluwer Health)
dc.relation.ispartofseriesNeurology : Genetics
dc.relation.urihttp://dx.doi.org/10.1212/NXG.0000000000000291
dc.rightsCC BY-NC-ND https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.titleCopy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
dc.description.versionpublished version
dc.contributor.departmentSchool of Medicine / Biomedicine
dc.contributor.departmentA.I. Virtanen -instituutti / Neurobiologia,School of Medicine / Clinical Medicine
uef.solecris.id59404600en
dc.type.publicationTieteelliset aikakauslehtiartikkelit
dc.rights.accessrights© Authors
dc.relation.doi10.1212/NXG.0000000000000291
dc.description.reviewstatuspeerReviewed
dc.relation.articlenumbere291
dc.relation.issn2376-7839
dc.relation.issue6
dc.relation.volume4
dc.rights.accesslevelopenAccess
dc.type.okmA1
uef.solecris.openaccessOpen access -julkaisukanavassa ilmestynyt julkaisu


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