Early development and unstable genes in schizophrenia: preliminary results

Agnes Ayton, Alex G Morris, Philip J Tyson, David Hunt, Ann M. Mortimer, David Cottrell

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Trinucleotide repeats have been associated with schizophrenia, but the evidence, based on cross-sectional clinical information, is equivocal.

AIMS: To examine the relationship between genomic CAG/CTG repeat size and premorbid development in schizophrenia.

METHOD: Early development and premorbid functioning of 22 patients with DSM-IV diagnosis of schizophrenia were assessed by parental interviews. Repeat expansion detection (RED) technique was used to measure genomic CAG/CTG repeat size, and PCR for CAG repeat size at the ERDA-1 and CTG 18.1 loci.

RESULTS: There was an inverse association between CAG/CTG size and perinatal complications. Patients with speech and motor developmental delay had larger repeats. The results were not due to expansion in the ERDA-1 and CTG 18.1 genes.

CONCLUSIONS: CAG/CTG repeat expansion is associated with speech and motor developmental delay in schizophrenia. We propose that the developmental model may be useful for research into the genetics of schizophrenia.

Original languageEnglish
Pages (from-to)332-8
Number of pages7
JournalEuropean Psychiatry
Issue number6
Publication statusPublished - Oct 2002


  • Adult
  • Age Factors
  • Child
  • Cross-Sectional Studies
  • Developmental Disabilities
  • Female
  • Gene Deletion
  • Gene Expression
  • Humans
  • Male
  • Motor Skills Disorders
  • Polymerase Chain Reaction
  • Retrospective Studies
  • Schizophrenia
  • Speech Disorders
  • Trinucleotide Repeat Expansion
  • Trinucleotide Repeats


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