Triplet repeats in clinical subtypes of schizophrenia: variation at the DRPLA (B37 CAG repeat) locus is not associated with periodic catatonia

K. P. Lesch, G. Stöber, U. Balling, E. Franzek, S. H. Li, C. A. Ross, M. Newman, H. Beckmann, P. Riederer

Research output: Contribution to journalArticlepeer-review

Abstract

Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, indicates that genes with triplet repeat expansions or other unstable repetitive elements affecting gene expression may be involved in the etiology of this disorder. Because patients affected with dentatorubral-pallidoluysian atrophy (DRPLA) may present with "schizophrenic" symptoms, we have investigated the DRPLA (B 37 CAG repeat) locus on chromosome 12 in 41 patients with periodic catatonia. The B 37 CAG repeat locus was highly polymorphic but all alleles in both the patient and control group had repeat sizes within the normal range. We conclude that variation at the DRPLA locus is unlikely to be associated with periodic catatonia. The evidence for dominant inheritance and anticipation as well as the high prevalence of human brain genes containing trinucleotide repeats justifies further screening for triplet repeat expansions in periodic catatonia.

Original languageEnglish (US)
Pages (from-to)153-157
Number of pages5
JournalJournal of Neural Transmission
Volume98
Issue number2
DOIs
StatePublished - Jun 1994

Keywords

  • Association study
  • B37 CAG repeat locus
  • chromosome 12
  • periodic catatonia
  • schizophrenia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry

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