GAG repeat expansion in parent-offspring pairs of schizophrenic patients

L. Martorell, M. A. Pujana, J. Valero, V. Volpini, A. Labad, Xavier P. Estivill, E. Vilella

Research output: Contribution to journalArticle


Objective: To evaluate whether expansion of GAG repeats is operating in families with apparent anticipation of schizophrenia. Method: Parent-offspring pairs of schizophrenia patients with earlier age at onset in the filial generation were selected. Age at onset was defined as the age at which first psychotic symptom was noted. Patients were diagnosed according to DSM-III-R. For comparisons, a group of healthy volunteers was matched for age, gender, and recruited from the same area. GAG expansions were analyzed by the RED method. Intergenerational comparisons were made for age at onset, length of the GAG repeat, and clinical variables. Results: Apparent anticipation was observed in 21 parent-offspring pairs of schizophrenia patients. Patients from the filial generation became affected 13 years earlier than the parents (P < 0.0005), although the length of GAG repeats was not different. None of the clinical variables defining disease status were associated with the length of the GAG repeats. Conclusions: In our sample, apparent anticipation is present in parent-offspring pairs of schizophrenia patients but is not associated with the expansion of GAG repeats.

Original languageEnglish
Pages (from-to)534
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number6
Publication statusPublished - 6 Nov 1998
Externally publishedYes


ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Martorell, L., Pujana, M. A., Valero, J., Volpini, V., Labad, A., Estivill, X. P., & Vilella, E. (1998). GAG repeat expansion in parent-offspring pairs of schizophrenic patients. American Journal of Medical Genetics - Neuropsychiatric Genetics, 81(6), 534.