ArticleAmerican journal of human genetics2000
Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 3 of them syntheses that pooled it.
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Who cites it
53 citing papers in PubMed, 3 syntheses or guidelines pooled it, 186 citations in OpenAlex.
- Genetic abnormalities in catatonia: a systematic review.Psychological medicine · 2025Pooled it
- Evidence-based consensus guidelines for the management of catatonia: Recommendations from the British Association for Psychopharmacology.Journal of psychopharmacology (Oxford, England) · 2023Guideline
- Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia.Molecular psychiatry · 2002Pooled it
- Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder.Molecular psychiatry · 2006Trial
- Shared and specific susceptibility loci for schizophrenia and bipolar disorder: a dense genome scan in Eastern Quebec families.Molecular psychiatry · 2005Trial
- Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia.Molecular psychiatry · 2005Trial
- Concomitant pathologies and their impact on schizophrenia: a narrative overview of current evidence.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Periodic Catatonia in a Veteran With Post-traumatic Stress Disorder (PTSD) and Traumatic Brain Injury (TBI).Cureus · 2026Article
- Acute Psychotic Episode With Catatonia in an Adolescent With Marfan Syndrome: A Case Report.Cureus · 2026Article
- First 150 years of catatonia: Looking back at its complicated history and forward to the road ahead.World journal of psychiatry · 2024Article
- Exploring genetic risk for catatonia in a genome wide association study and polygenic risk score analysis.Schizophrenia research · 2024Article
- Early-onset catatonia associated withFrontiers in psychiatry · 2023Article
- Catatonia: Clinical Overview of the Diagnosis, Treatment, and Clinical Challenges.Neurology international · 2021Review
- Wernicke-Kleist-Leonhard phenotypes of endogenous psychoses: a review of their validity .Dialogues in clinical neuroscience · 2020Review
- Electroconvulsive Therapy for Patients with Catatonia: Current Perspectives.Neuropsychiatric disease and treatment · 2020Review
- Structure and neural mechanisms of catatonia.The lancet. Psychiatry · 2019Review
- Article
- Alpha7 Nicotinic Receptors as Therapeutic Targets in Schizophrenia.Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco · 2019Review
- Motor Abnormalities: From Neurodevelopmental to Neurodegenerative Through "Functional" (Neuro)Psychiatric Disorders.Schizophrenia bulletin · 2017Review
- The Syndrome of Catatonia.Behavioral sciences (Basel, Switzerland) · 2015Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The nature of subtypes in schizophrenia and the meaning of heterogeneity in schizophrenia have been considered a principal controversy in psychiatric research. We addressed these issues in periodic catatonia, a clinical entity derived from Leonhard's classification of schizophrenias, in a genomewide linkage scan. Periodic catatonia is characterized by qualitative psychomotor disturbances during acute psychotic outbursts and by long-term outcome. On the basis of our previous findings of a lifetime morbidity risk of 26.9% of periodic catatonia in first-degree relatives, we conducted a genome scan in 12 multiplex pedigrees with 135 individuals, using 356 markers with an average spacing of 11 cM. In nonparametric multipoint linkage analyses (by GENEHUNTER-PLUS), significant evidence for linkage was obtained on chromosome 15q15 (P = 2.6 x 10(-5); nonparametric LOD score [LOD*] 3.57). A further locus on chromosome 22q13 with suggestive evidence for linkage (P = 1.8 x 10(-3); LOD* 1.85) was detected, which indicated genetic heterogeneity. Parametric linkage analysis under an autosomal dominant model (affecteds-only analysis) provided independent confirmation of nonparametric linkage results, with maximum LOD scores 2.75 (recombination fraction [theta].04; two-point analysis) and 2.89 (theta =.029; four-point analysis), at the chromosome 15q candidate region. Splitting the complex group of schizophrenias on the basis of clinical observation and genetic analysis, we identified periodic catatonia as a valid nosological entity. Our findings provide evidence that periodic catatonia is associated with a major disease locus, which maps to chromosome 15q15.
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