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Linkage and whole genome sequencing identify a locus on 6q25-26 for formal thought disorder and implicate MEF2A regulation.

https://arctichealth.org/en/permalink/ahliterature276641
Source
Schizophr Res. 2015 Dec;169(1-3):441-6
Publication Type
Article
Date
Dec-2015
Author
Johan Hilge Thygesen
Sine Katharina Zambach
Andrés Ingason
Pär Lundin
Thomas Hansen
Marcelo Bertalan
Anders Rosengren
Ditte Bjerre
Laura Ferrero-Miliani
Henrik Berg Rasmussen
Josef Parnas
Thomas Werge
Source
Schizophr Res. 2015 Dec;169(1-3):441-6
Date
Dec-2015
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Chromosomes, Human, Pair 6
Denmark
Female
Genetic Linkage
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Genome, Human - genetics
Genotype
Humans
Lod Score
Longitudinal Studies
MEF2 Transcription Factors - genetics
Male
Middle Aged
Phosphoric Diester Hydrolases - genetics
RNA-Binding Proteins - genetics
Schizophrenia - genetics
Sequence Analysis, DNA
Statistics, nonparametric
Young Adult
Abstract
Formal thought disorder is a major feature of schizophrenia and other psychotic disorders. It is heritable, found in healthy relatives of patients with schizophrenia and other mental disorders but knowledge of specific genetic factors is lacking. The aim of this study was to search for biologically relevant high-risk variants. Formal thought disorder was assessed in participants in the Copenhagen Schizophrenia Linkage Study (N=236), a unique high-risk family study comprised of six large pedigrees. Microsatellite linkage analysis of formal thought disorder was performed and subsequent haplotype analysis of the implicated region using phased microsatellite and SNP genotypes. Whole genome sequencing (N=3) was used in the attempt to identify causative variants in the linkage region. Linkage analysis of formal thought disorder resulted in a single peak at chromosome 6(q26-q27) centred on marker D6S1277, with a maximum LOD score of 4.0. Phasing and fine mapping of the linkage peak identified a 5.5Mb haplotype (chr6:162242322-167753547, hg18) in 31 individuals, all belonging to the same pedigree sharing the haplotype from a common ancestor. The haplotype segregated with increased total thought disorder index score (P=4.9 × 10(-5)) and qualitatively severe forms of thought disturbances. Whole genome sequencing identified a novel nucleotide deletion (chr6:164377205 AG>A, hg18) predicted to disrupt the potential binding of the transcription factor MEF2A. The MEF2A binding site is located between two genes previously reported to associate with schizophrenia, QKI (HGNC:21100) and PDE10A (HGNC:8772). The findings are consistent with MEF2A deregulation conferring risk of formal thought disorder.
PubMed ID
26421691 View in PubMed
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Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence.

https://arctichealth.org/en/permalink/ahliterature179524
Source
Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):30-6
Publication Type
Article
Date
Jul-1-2004
Author
Steven Matthysse
Philip S Holzman
James F Gusella
Deborah L Levy
Christopher B Harte
Age Jørgensen
Lise Møller
Josef Parnas
Author Affiliation
Psychology Research Laboratory, Mailman Research Center, McLean Hospital/Harvard Medical School, 115 Mill Street, Belmont, MA 02478, USA. steven_matthysse@harvard.edu
Source
Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):30-6
Date
Jul-1-2004
Language
English
Publication Type
Article
Keywords
Case-Control Studies
Chromosomes, Human, Pair 6
Denmark - epidemiology
Family Health
Genetic Linkage
Genetic markers
Genomics - methods
Humans
Lod Score
Ocular Motility Disorders - epidemiology - etiology - genetics
Pedigree
Prevalence
Schizophrenia - complications - epidemiology - genetics
Abstract
Establishing the genetics of physiological traits associated with schizophrenia may be an important first step in building a neurobiological bridge between the disease phenotype and its genetic underpinnings. One of the best known of the traits associated with schizophrenia is a disorder of smooth pursuit eye tracking (ETD), which is present in 50-80% of schizophrenia patients. ETD is more than three times more prevalent in the families of a schizophrenia patient than is schizophrenia itself. Arolt et al. [1999] estimated LOD scores for ETD of 2.85 for D6S282 and 3.70 for D6S271, two markers on 6p21.1, as well as obtaining an indication of possible linkage for schizophrenia. Our sample comprised two large families in Denmark. Markers in the region that was implicated by the study of Arolt et al. [1996, 1999] were analyzed as part of a genome scan using the "latent trait (L.T.) model" for the co-transmission of schizophrenia and ETD that we had previously fitted to segregation analysis data from Norway. We obtained a LOD score of 2.05 for D6S1017, a marker within 3 cM of the positive markers obtained by Arolt et al. [1996, 1999]. We regard our results as independent evidence supporting the findings of Arolt et al. [1996, 1999] and also as support for the L.T. model as a way of combining the traits ETD and schizophrenia.
PubMed ID
15211627 View in PubMed
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Premorbid intelligence and educational level in bipolar and unipolar disorders: a Danish draft board study.

https://arctichealth.org/en/permalink/ahliterature128316
Source
J Affect Disord. 2012 Feb;136(3):1188-91
Publication Type
Article
Date
Feb-2012
Author
Holger Jelling Sørensen
Ditte Sæbye
Annick Urfer-Parnas
Erik Lykke Mortensen
Josef Parnas
Author Affiliation
Psychiatric University Centre Amager, Denmark.
Source
J Affect Disord. 2012 Feb;136(3):1188-91
Date
Feb-2012
Language
English
Publication Type
Article
Keywords
Adult
Bipolar Disorder - epidemiology - psychology
Denmark - epidemiology
Depressive Disorder - epidemiology - psychology
Educational Status
Follow-Up Studies
Humans
Intelligence
Intelligence Tests
Male
Middle Aged
Military Personnel - psychology
Young Adult
Abstract
Registry-based studies have found no or weak associations between premorbid intelligence and the broad entity of affective spectrum disorder, but none of the studies compared bipolar/unipolar subgroups.
IQ and educational level were assessed at the draft board, and hospital diagnoses were followed up to the ages 43-54 years for 294 individuals hospitalized with bipolar disorder and 1434 with unipolar or depressive disorder. Controls comprised 20,531 individuals without psychiatric registration.
Mean IQs of 98.32 and 96.71 were observed for patients with bipolar and depressive disorder respectively. For both patient groups a unimodal, slightly negatively skewed distribution was observed. The difference between the two patient samples was not statistically significant (p=0.10), but both obtained lower mean scores than the controls (p
PubMed ID
22209188 View in PubMed
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Reliability of clinical ICD-10 schizophrenia diagnoses.

https://arctichealth.org/en/permalink/ahliterature172639
Source
Nord J Psychiatry. 2005;59(3):209-12
Publication Type
Article
Date
2005
Author
Klaus D Jakobsen
Julie N Frederiksen
Thomas Hansen
Lennart B Jansson
Josef Parnas
Thomas Werge
Author Affiliation
Research Institute of Biological Psychiatry, Sct. Hans Hospital, Roskilde, Denmark. klaus.damgaard.jakobsen@shh.hosp.dk
Source
Nord J Psychiatry. 2005;59(3):209-12
Date
2005
Language
English
Publication Type
Article
Keywords
Adult
Denmark - epidemiology
Female
Humans
International Classification of Diseases
Male
Predictive value of tests
Psychiatric Status Rating Scales
Psychotic Disorders
Reproducibility of Results
Schizophrenia - diagnosis - epidemiology
Schizophrenic Psychology
Sensitivity and specificity
Abstract
Concern has been expressed as to the reliability of clinical ICD-10 diagnosis of schizophrenia. This study was designed to assess the diagnostic reliability of the clinical ICD-10 diagnosis of schizophrenia in a random sample of Danish in- and outpatients with a history of psychosis. A sample of 100 subjects was assessed using the operational criteria OPCRIT checklist for psychotic and affective illness. The most recent principal and clinical ICD-10 diagnosis was compared with diagnoses generated by the OPCRIT instrument. Data documented very high sensitivity (93%) and positive predictive value (87%) of ICD-10 schizophrenia and an overall good agreement between clinical and OPCRIT-derived diagnoses (kappa=0.60). An even higher positive predictive value was obtained when diagnoses were amalgamated into a diagnostic entity of schizophrenia-spectrum disorders (98%). Near perfect agreement was seen between OPCRIT-derived ICD-10 and DSM-IV diagnoses (kappa=0.87). Thus, this study demonstrates high reliability of the clinical diagnosis of schizophrenia and even more so of the diagnosis of schizophrenia-spectrum disorder.
PubMed ID
16195122 View in PubMed
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The silent side of the spectrum: schizotypy and the schizotaxic self.

https://arctichealth.org/en/permalink/ahliterature145270
Source
Schizophr Bull. 2011 Sep;37(5):1017-26
Publication Type
Article
Date
Sep-2011
Author
Andrea Raballo
Josef Parnas
Author Affiliation
Danish National Research Foundation: Center for Subjectivity Research, University of Copenhagen, Copenhagen, Denmark. anr@hum.ku.dk
Source
Schizophr Bull. 2011 Sep;37(5):1017-26
Date
Sep-2011
Language
English
Publication Type
Article
Keywords
Adult
Denmark - epidemiology
Ego
Female
Genetic Linkage
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Psychiatric Status Rating Scales
Regression Analysis
Schizophrenia - genetics
Schizophrenic Psychology
Schizotypal Personality Disorder - classification - diagnosis - physiopathology
Abstract
The identification of individuals carrying unexpressed genetic liability to schizophrenia is crucial for both etiological research and clinical risk stratification. Subclinical psychopathological features detectable in the nonpsychotic part of the schizophrenia spectrum could improve the delineation of informative vulnerability phenotypes. Inspired by Meehl's schizotaxia-schizotypy heuristic model, we tested anomalous subjective experiences (self-disorders, SDs) as a candidate vulnerability phenotype in a sample of nonpsychotic, genetically high-risk subjects. A total of 218 unaffected members of 6 extended multiplex families (assessed between 1989 and 1999 during the Copenhagen Schizophrenia Linkage Study) were stratified into 4 groups of increasing psychopathological expressivity: no mental illness (NMI), no mental illness with schizotypal traits (NMI-ST), personality disorders not fulfilling other personality disorders (OPDs), and schizotypal personality disorder (SPD). We tested the distribution of SDs among the subgroups, the effect of SDs on the risk of belonging to the different subgroups, and the effect of experimental grouping and concomitant psychopathology (ie, negative symptoms (NSs) and subpsychotic formal thought disorder [FTD]) on the chances of experiencing SDs. SDs distribution followed an incremental pattern from NMI to SPD. SDs were associated with a markedly increased risk of NMI-ST, OPDs, or SPD. The odds of SDs increased as a function of the diagnostic category assignment, independently of sociodemographics and concomitant subclinical psychopathology (NSs and FTD). The results support SDs as an expression of schizotaxic vulnerability and indicate a multidimensional model of schizotypy--characterized by SDs, NSs, FTD--as a promising heuristic construct to address liability phenotypes in genetically high-risk studies.
Notes
Cites: Am J Psychiatry. 1993 Nov;150(11):1661-78214174
Cites: Arch Gen Psychiatry. 1993 Sep;50(9):707-148357296
Cites: Schizophr Bull. 1994;20(3):481-937973465
Cites: Arch Gen Psychiatry. 1995 Apr;52(4):296-3037702446
Cites: Am J Psychiatry. 1995 May;152(5):749-547726315
Cites: Compr Psychiatry. 1995 May-Jun;36(3):167-817648839
Cites: Am J Psychiatry. 1953 Dec;110(6):406-1613104683
Cites: Schizophr Res. 2005 Jan 1;72(2-3):137-4915560959
Cites: Br J Psychiatry Suppl. 2005 Aug;48:s49-5416055808
Cites: J Clin Psychol. 2005 Oct;61(10):1295-31516041784
Cites: Psychopathology. 2005 Sep-Oct;38(5):236-5816179811
Cites: Psychopathology. 2005 Sep-Oct;38(5):259-6716179812
Cites: Schizophr Res. 2005 Nov 15;79(2-3):217-2915993566
Cites: Schizophr Bull. 2007 Sep;33(5):1178-20017158508
Cites: Schizophr Bull. 2008 Mar;34(2):381-9217702990
Cites: Schizophr Bull. 2009 Jan;35(1):5-819074497
Cites: Schizophr Bull. 2009 May;35(3):482-9019329560
Cites: Med Hypotheses. 2009 Jul;73(1):121-219282109
Cites: World J Biol Psychiatry. 2009;10(2):127-5519396704
Cites: Lancet. 2009 Aug 1;374(9687):365-719647596
Cites: Neuroscience. 2009 Nov 24;164(1):288-9919393294
Cites: Schizophr Bull. 2010 Jan;36(1):182-9118579555
Cites: Schizophr Bull. 2011 Mar;37(2):344-5119528205
Cites: Schizophr Bull. 2000;26(1):217-3210755683
Cites: Am J Psychiatry. 2000 Jul;157(7):1041-5010873908
Cites: Schizophr Bull. 2001;27(1):1-1811215539
Cites: Arch Gen Psychiatry. 2001 Feb;58(2):158-6411177117
Cites: Biol Psychiatry. 2001 Sep 15;50(6):434-4011566160
Cites: Schizophr Res. 2002 Mar 1;54(1-2):169-7511853991
Cites: Compr Psychiatry. 2003 Mar-Apr;44(2):121-3412658621
Cites: Acta Psychiatr Scand. 2003 Aug;108(2):126-3312823169
Cites: Schizophr Bull. 2003;29(3):427-4414609238
Cites: Psychiatr Q. 2003 Winter;74(4):313-3214686457
Cites: Psychopathology. 2004 Jan-Feb;37(1):23-814988647
Cites: Acta Biomed. 2003 Dec;74(3):131-615055017
Cites: Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):30-615211627
Cites: Schizophr Bull. 2004;30(2):317-2515279049
Cites: Behav Genet. 1976 Jul;6(3):219-25973827
Cites: Schizophr Bull. 1986;12(3):473-823764363
Cites: Arch Gen Psychiatry. 1989 Oct;46(10):935-442552952
Cites: J Psychiatr Res. 1989;23(3-4):229-392635220
Cites: Arch Gen Psychiatry. 1994 Jun;51(6):442-558192547
PubMed ID
20176859 View in PubMed
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Thinking within the spectrum: schizophrenic thought disorder in six Danish pedigrees.

https://arctichealth.org/en/permalink/ahliterature177243
Source
Schizophr Res. 2005 Jan 1;72(2-3):137-49
Publication Type
Article
Date
Jan-1-2005
Author
Mette S Vaever
Deborah M Licht
Lise Møller
Dorthe Perlt
Age Jørgensen
Peter Handest
Josef Parnas
Author Affiliation
Department of Psychology, University of Copenhagen, Njalsgade 88, Copenhagen 2300, Denmark. Mette.Vaever@psy.ku.dk
Source
Schizophr Res. 2005 Jan 1;72(2-3):137-49
Date
Jan-1-2005
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Cognition Disorders - epidemiology - ethnology - genetics
Denmark
Factor Analysis, Statistical
Female
Humans
Incidence
Male
Pedigree
Risk factors
Schizophrenia - epidemiology - ethnology - genetics
Thinking
Abstract
Formal thought disorder (FTD), a major symptom of schizophrenia, is known to aggregate in families. Our aim was to examine the specificity of FTD in the schizophrenia spectrum disorders and the hypothesized linear aggregation of FTD within pedigrees. Six individuals with a diagnosis of schizophrenia were identified in the Copenhagen High-Risk study and each pedigree was centered on one of the six original schizophrenic probands' nuclear families. The 329 pedigree members in the study were considered at risk for schizophrenia spectrum disorders because most were genetically related to the originating schizophrenic probands. The participants were administered the Copenhagen Interview of Functional Illness to determine diagnoses and the Thought Disorder Index (TDI) was used to assess FTD. Individuals with a schizophrenia diagnosis had higher global levels of FTD, exhibited more severe types of FTD, and had a qualitatively different type of FTD than did participants with other diagnoses or no mental illness. Individuals with Cluster A diagnoses exhibited more FTD and FTD similar in quality to participants with schizophrenia. These results support the construct of a spectrum of schizophrenia conditions. There was a generally high level of FTD in the pedigrees, in part due to assortative mating in this sample. However, there was no apparent pattern of linear aggregation of FTD within the families.
PubMed ID
15560959 View in PubMed
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Variability in clinical diagnoses during the ICD-8 and ICD-10 era.

https://arctichealth.org/en/permalink/ahliterature283258
Source
Soc Psychiatry Psychiatr Epidemiol. 2016 Sep;51(9):1293-9
Publication Type
Article
Date
Sep-2016
Author
Julie Nordgaard
Kasper Jessen
Ditte Sæbye
Josef Parnas
Source
Soc Psychiatry Psychiatr Epidemiol. 2016 Sep;51(9):1293-9
Date
Sep-2016
Language
English
Publication Type
Article
Keywords
Bipolar Disorder - diagnosis - epidemiology
Denmark - epidemiology
Depressive Disorder - diagnosis - epidemiology
Hospitalization
Humans
Inpatients - statistics & numerical data
International Classification of Diseases
Mental Disorders - diagnosis - epidemiology
Personality Disorders - diagnosis - epidemiology
Population Growth
Psychiatry
Registries
Reproducibility of Results
Schizophrenia - diagnosis - epidemiology
Schizotypal Personality Disorder - diagnosis - epidemiology
Abstract
To explore whether the diagnostic homogeneity in a daily, routine clinical activity changed visibly over two historical periods (the ICD-8 and the ICD-10 era) across and within five psychiatric in-patient clinics.
In this register study, we analyzed the discharge diagnoses from five university-affiliated departments of psychiatry in Denmark in two time periods: 1980-1985 (ICD-8) and 2001-2010 (ICD-10).
The synchronic inter-departmental diagnostic differences did not decrease in the ICD-10 era compared with ICD-8 era. Nor did the diachronic stability within each department become more homogeneous.
The diagnostic variability reflected by the diagnostic differences between the departments and by the diagnostic homogeneity within each department remained similar in the two historical periods with no evidence of an increased homogeneity of diagnostic habits after the introduction of the ICD-10.
There is a myriad of variables that affects the diagnostic variability over time that we were not able to control.
Notes
Cites: Acta Psychiatr Scand. 1991 Oct;84(4):332-51746283
Cites: Eur Psychiatry. 1995;10(3):129-4119698327
Cites: Annu Rev Clin Psychol. 2012;8:109-3022035240
Cites: J Psychiatr Res. 1992 Oct;26(4):329-441491357
Cites: Arch Gen Psychiatry. 1993 Feb;50(2):115-248427551
Cites: Proc Annu Meet Am Psychopathol Assoc. 1975;(63):147-651242222
Cites: World Psychiatry. 2013 Feb;12(1):22-323471789
Cites: Eur Arch Psychiatry Clin Neurosci. 2013 Jun;263(4):353-6423001456
Cites: Schizophr Bull. 2014 Nov;40(6):1300-724476579
Cites: Psychopathology. 1994;27(1-2):19-287972636
Cites: World Psychiatry. 2012 Oct;11(3):181-523024678
Cites: World Psychiatry. 2014 Feb;13(1):46-724497247
Cites: Psychopathology. 2005 Sep-Oct;38(5):259-6716179812
Cites: Acta Psychiatr Scand. 1978 Sep;58(3):213-30707164
Cites: Br J Psychiatry. 1987 Dec;151:753-73502801
Cites: Psychopathology. 2005 Sep-Oct;38(5):236-5816179811
Cites: Am J Psychiatry. 2010 Jul;167(7):748-5120595427
Cites: Dan Med Bull. 1997 Feb;44(1):82-49062767
Cites: Pharmacopsychiatry. 1990 Jun;23 Suppl 4:188-912197647
Cites: Am J Psychiatry. 1994 Sep;151(9):1340-508067491
Cites: Annu Rev Clin Psychol. 2010;6:155-7917716032
Cites: World Psychiatry. 2015 Oct;14(3):284-726407775
Cites: Cerebrum. 2011 Mar;2011:623447775
PubMed ID
27416820 View in PubMed
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8 records – page 1 of 1.