Summary
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.
This is a preview of subscription content, log in via an institution to check access.
References
American Psychiatric Association (1987) Diagnostic and statistical manual of mental disorders, 3rd ed, revised. APA, Washington DC
Franzek E, Beckmann H (1992) Schizophrenia: not a disease entity? A study of 57 longterm hospitalized chronic schizophrenics. Eur J Psychiatry 6: 97–108
Harper PS, Harley HG, Reardon W, Shaw DJ (1992) Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet 51: 10–16
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishkawa A, Hayahi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genetics 6: 9–12
Leonhard K (1979) The classification of endogenous psychoses. Irvington, New York
Leonhard K (1980) Contradictory issues in the origin of schizophrenia. Br J Psychiatry 136: 437–444
Li SH, McInnis MG, Margolis RL, Antonarakis SE, Ross CA (1993) Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16: 572–579
Mandel JL (1993) Questions of expansion. Nature Genet 4: 8–9
McInnis MG, McMahon FJ, Chase GA, Simpson SG, Ross CA, DePaulo JR (1993) Anticipation in bipolar affective disorder. Am J Hum Genet 53: 385–390
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12 p. Nature Genetics 6: 14–18
Ross CA, McInnis MG, Margolis RL, Li SH (1993) Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trends Neurosci 16: 264–272
Rubinsztein DC, Leggo J, Goodburn S, Barton DE, Ferguson-Smith MA, Ross CA, Li SH, Lofthouse R, Crow TJ, Delisi LE (1994) B 37 repeats are normal in most schizophrenic patients (letter). Br J Psychiatry 164: 851–852
Scharfetter C, Nuesperli M (1980) The group of schizophrenias, schizoaffective psychoses, and affective disorders. Schizophr Bull 6: 586–591
Stöber G, Franzek E, Lesch KP, Beckmann H (1994) Periodic catatonia: a schizophrenic subtype with dominant inheritance and anticipation. Eur Arch Psychiatr Clin Neurosci (in press)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Lesch, K.P., Stöber, G., Balling, U. et al. Triplet repeats in clinical subtypes of schizophrenia: variation at the DRPLA (B37 CAG repeat) locus is not associated with periodic catatonia. J. Neural Transmission 98, 153–157 (1994). https://doi.org/10.1007/BF01277018
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01277018