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Autori: Jablensky, A; Hallmayer, J; Dragović, Milan; Badcock, J; Kalaydjieva, L.
Naslov: “ Kraepelinian” and “ Bleulerian” schizophrenia: A genetic dissection of a cognitive endophenotype
Izvornik:
Skup: the Annual Genemapers conference
Mjesto i datum: Fremantle, Australija, 2004
Ključne riječi: schizophrenia; genetic linkage; endophenotypes; cognition
Sažetak:
Cognitive deficit was conceived by Emil Kraepelin (1919) to be a core feature of a single disease, 'dementia praecox'. In contrast, Eugen Bleuler (1923) hypothesised that schizophrenia was the "common final pathway" for an aetiologically mixed group of disorders. The controversy engendered by these two great clinicians survives unscathed into the present diagnostic concepts of schizophrenia. Since schizophrenia is clinically heteogeneous and genetically complex, ICD-10 and DSM-IV diagnoses may not provide the optimal phenotypes for genetic analysis. We explored a novel, enodphenotype-based approach in the search for susceptibility genes by generating a composite quantitative phenotype which integrates multiple measurements of neurocognitive performance in the domains of attention, working memory, verbal learning, speed of information processing and personality dimensions, using a variant of latent class analysis known as Grade of Membership (GoM). The Western Australian family sample (N = 97 ; 386 individuals) used in this analysis yielded two distinct neurocognitive and clinical phenotypes, each correlated with schizophrenia: one indexing severe neurocognitive deficit and predominantly 'negative' symptoms ; and one neurocognitivelly unimpaired, with florid 'positive' psychotic symptoms. The composite neurocognitive trait was used in linkage analysis as a liability covariate, on which each individual in the sample (affected and unaffected) was assigned a score. A 10cM genome scan, followed by ordered sets analysis (OSA) resulted in consistent, significant or suggestive linkage signals for the neurocognitive deficit subtype in several genome regions (6p, 10p, and 10q ; no comparably consistent findings have yet obtained for the neurocognitivelly unimpaired subtype, suggesting a greater genetic heterogeneity. These results support "splitting" schizophrenia into aetiological distinct subtypes and demonstrate an increase in power resulting from use of composite quantitative endophenotypes.
Vrsta sudjelovanja: Predavanje
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Međunarodna recenzija
Izvorni jezik: ENG
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti,Kliničke medicinske znanosti,Psihologija



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