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08-05 ‘Kraepelinian’ and ‘Bleulerian’ schizophrenia: a genetic dissection of a cognitive endophenotype

Published online by Cambridge University Press:  24 June 2014

A Jablensky
Affiliation:
UWA School of Psychiatry and Clinical Neuroscience Centre for Clinical Research in Neuropsychiatry
J Hallmayer
Affiliation:
UWA School of Psychiatry and Clinical Neuroscience Stanford University School of Medicine Department of Psychiatry and Behavioural Sciences
M Dragovic
Affiliation:
Centre for Clinical Research in Neuropsychiatry
J Badcock
Affiliation:
UWA School of Psychiatry and Clinical Neuroscience Centre for Clinical Research in Neuropsychiatry
L Kalaydjieva
Affiliation:
Western Australian Institute of Medical Research, Perth, Australia
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Abstract

Type
Abstracts from ‘Brainwaves’— The Australasian Society for Psychiatric Research Annual Meeting 2006, 6–8 December, Sydney, Australia
Copyright
Copyright © 2006 Blackwell Munksgaard

Cognitive deficit was conceived by Emil Kraepelin (1919) to be a core feature of a single disease, dementia praecox. In contrast, Eugen Bleuler (1923) hypothesized that schizophrenia was the ‘common final pathway’ for an etiologically mixed group of disorders. The controversy engendered by these two great clinicians survives unscathed in the present diagnostic concepts of schizophrenia. Because schizophrenia is clinically heterogeneous and genetically complex, ICD-10 and DSM-IV diagnoses may not provide the optimal phenotypes for genetic analysis. We developed a novel, endophenotype-based approach to the search for susceptibility genes by generating a composite phenotype that integrates multiple measurements of neurocognition, neurological signs and personality traits using a variant of latent class analysis known as grade of membership. The WA Family Study of Schizophrenia sample (112 families, 388 individuals) yielded two distinct neurocognitive phenotypes, each correlated with schizophrenia: one indexing pervasive neurocognitive deficit and predominantly ‘negative’ symptoms, and one neurocognitively unimpaired, with florid ‘positive’ psychotic symptoms. The quantitative neurocognitive trait was used in linkage analysis as a liability covariate, on which each individual in the sample (affected and unaffected) was scored. A 10-cM genome scan, followed by ordered sets analysis resulted in a robust linkage signal (lod score >3.4) for the neurocognitive deficit subtype on chromosome 6p25-22, whereas the neurocognitively unimpaired subtype was definitively excluded for linkage to the same region. This work supports ‘splitting’ schizophrenia into genetically distinct subtypes and shows an increase in power resulting from use of composite quantitative endophenotypes.