Large CAG/CTG repeats are associated with childhood-onset schizophrenia

Molecular Psychiatry

Volumn 3, Issue 4, 1998, Pages 321-327

  Burgess, C E ^a   Lindblad, K ^a   Sidransky, E ^b   Yuan, Q P ^a   Long, R T ^b   Breschel, T ^c   Ross, C A ^c   McInnis, M ^c   Lee, P ^b   Ginns, El ^b   Lenane, M ^b   Kumra, S ^b   Jacobsen, L ^b   Rapoport, J L ^b   Schalling, M ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CTG18.1; Multi dimensionally impaired; Neuropsychiatric disorders; Repeat expansion detection; Trinucleotide repeat expansion

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CAUCASIAN; CHILD; CHROMOSOME 18; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE LOCUS; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; MALE; NORMAL HUMAN; ONSET AGE; PRIORITY JOURNAL; SCHIZOPHRENIA; SEX DIFFERENCE; TRINUCLEOTIDE REPEAT;

EID: 7344251713     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4000405     Document Type: Article

References (45)

1. Cloninger CR. Turning point in the design of linkage studies of schizophrenia. Am J Med Genet 1994; 54: 83-92.
2. DeSanctis S. On some varieties of dementia praecox. Translated by ML Osburn. In: Howell JG (ed). Revista Sperimentale de Freniatria e Medicina Legale delle Alienazioni Mentale. Brunner/Mazel: New York, NY, 1906, pp 141-165.
3. Bleuler E (1911) Dementia Praecox, or the Group of Schizophrenia's. Translated by J Zinkin. Internationl Universities Press: New York, NY, 1950.
4. Kraepelin E (1919) Dementia Praecox and Paraphrenia. Translated by RM Barclay. E and S Livingstone: Edinburgh, Scotland, 1921.
5. McKenna K, Gordon CT, Lenane M, Kaysen D, Fahley K, Rapoport JL. Childhood-onset schizophrenia: timely neurobiological research. J Am Acad Child Adolesc Psychiatr 1994; 33: 771-781.
6. Gordon CT, Frazier JA, McKenna K, Giedd J, Zametkin A, Zahn T et al. Childhood-onset schizophrenia: an NIMH study in progress. Schizophr Bull 1994; 20: 697-712.
7. Jacobsen L, Rapoport JL. Childhood onset schizophrenia: implications of clinical and neurobiological research. J Child Psychol Psychiatr 1998; 39: 101-113.
8. Beitchman JH. Childhood schizophrenia: a review and comparison with adult-onset schizophrenia. Psychiatr Clin North Am 1985; 8: 793-814.
9. Karno M, Norquist GS. Schizophrenia: epidemiology. In: Kaplan HI, Saddock BJ (eds). Comprehensive Textbook of Psychiatry IV. 5th edn. Williams and Wilkins: Baltimore, MD 1989, pp 699-704.
10. Remschmidt HE, Schulz E, Martin M, Warnke A, Trott GE. Childhood-onset schizophrenia: history of the concept and recent studies. Schizophr Bull 1994; 20:727-745.
11. Werry JS. Child and adolescent (early-onset) schizophrenia: a review in light of DSM-III-R. J Autism & Dev Dis 1992; 22: 601-624.
12. Frazier JA, Giedd JN, Hamburger SD, Albus KE, Kaysen D, Vaituzis AC et al. Brain anatomic magnetic resonance imaging in childhood-onset schizophrenia. Arch Gen Psychiatry 1996; 53: 617-624.
13. Kolakowska T, Williams AO, Ardern M, Reveley MA, Jambor K, Gelder MG et al. Schizophrenia with good and poor outcome, I: early clinical features, response to neuroleptics and signs of organic dysfunction. Br J Psychiatry 1985; 146: 229-239.
14. Nimgaonakar VL, Wesseley S, Tune LE, Murray RM. Response to drugs in schizophrenia: the influence of family history, obstetric complications and ventricular enlargement. Psychol Med 1988; 18: 583-592.
15. Lobel AD, Lieberman JA, Alvir JMJ, Mayerhoff DI, Geisler SH, Szymanski SR. Duration of psychosis and outcome in first-episode schizophrenia. Am J Psychiatry 1992; 149: 1183-1188.
16. Harvey PD, Putnam KM, Davidson M, Kahn RS, Powchik P, McQueeney R et al. Brief neuroleptic discontinuation and clinical symptoms in Kraepelinian and non-Kraepelinian chronic schizophrenic patients. Psychiatry Res 1991; 38: 285-292.
17. Metzler HY, Rabinowitz J, Lee MA, Cola PA, Ranjan R, Findling RL et al. Age at onset and gender of schizophrenic patients in relation to neuroleptic resistance. Am J Psychiatry 1997; 154: 475-482.
18. DeLisi LE. The significance of age of onset for schizophrenia. Schizophr Bull 1992; 18: 209-215.
19. Warren ST, Nelson DL. Trinucleotide repeat expansions in neurological disease. Curr Opin Neurobiol 1993; 3: 752-759.
20. Lindblad K and Schalling M. Clinical implications of unstable DNA repeat sequences. Acta Paediatr 1996; 85: 265-271.
21. Bassett AS, Honer WG. Evidence for anticipation in schizophrenia. Am J Hum Genet 1994; 54: 864-870.
22. Asherson P, Walsh C, Williams J, Sargeant M, Taylor C, Clements A et al. Imprinting and anticipation: are they relevant to genetic studies of schizophrenia? Br J Psychiatry 1994; 164: 619-624.
23. Bassett AS, Husted J. Anticipation of ascertainment bias in schizophrenia? Penrose's familial mental illness sample. Am J Hum Genet 1997; 60: 630-637.
24. Yaw J, Myles-Worsley M, Hoff M, Holik J, Freedman R, Byerley W et al. Anticipation in multiplex schizophrenia pedigrees. Psychiatr Genet 1995; 6: 7-11.
25. Gorwood P, Leboyer M, Falissard B, Jay M, Rouillon F, Feingold J. Anticipation in schizophrenia: new light on a controversial problem. Am J Psychiatry 1996; 153: 1173-1177.
26. Morris AG, Gaitonde E, McKenna PJ, Mollon JD, Hunt DM. Repeat expansions and schizophrenia: association with disease in females and with early age-at-onset. Hum Mol Genet 1995; 4: 1957-1961.
27. O'Donovan MC, Guy C, Craddock N, Murphy KC, Cardno AG, Jones LA et al. Schizophrenia and bipolar disorder are associated with expanded CAG/CTG repeats. Nat Genet 1995; 10: 380-381.
28. Vincent JB, Klepman T, Parikh SS, Sasaki T, Meltzer HY, Sirugo G et al. Frequency analysis of large CAG/CTG trinucleotide repeats in schizophrenia and bipolar affective disorder. Mol Psychiatr 1996; 1: 141-148.
29. O'Donovan MC, Guy C, Craddock N, Bowen T, McKeon P, Macedo A et al. Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder. Psychol Med 1996; 26: 1145-1153.
30. Schalling M, Hudson TJ, Buetow KH, Housman DE. Repeat Expansion Detection (RED): a new method for the detection of long trinucleotide repeats. Nat Genet 1993; 4: 135-139.
31. Kumra S, Frazier JA, Jacobsen JK, McKenna K, Gordon CT, Lenane MC et al. Childhood-onset schizophrenia. A double-blind clozapine-haloperidol comparison. Arch Gen Psychiatry 1996; 53: 1090-1097.
32. Frazier JA, Alaghband-Rad J, Jacobsen L, Lenane MC, Hamburger S, Albus K et al. Pubertal development and onset of psychosis in childhood onset schizophrenia. Psychiatry Res 1997; 70: 1-7.
33. Kumra S, Frazier JA, Jacobsen LK, McKenna K, Gordon CT, Lenane MC et al. Childhood-onset schizophrenia. A double-blind clozapine-haloperidol comparison. Arch Gen Psychiatry 1996; 53: 1090-1097.
34. Giedd FN, Snell JW, Lange N, Rajapakse JC, Casey BJ, Kozuch PL et al. Quantitative magnetic resonance imaging of human brain development: ages 4-18. Cereb Cortex 1996; 6: 551-560.
35. Watkins WS, Bamshad M, Jorde LB. Population genetics of trinucleotide repeat polymorphisms. Hum Mol Genet 1995: 4: 1485-1491.
36. Richards RI, Crawford J, Narahara K, Mangelsdorf M, Friend K, Staples A et al. Dynamic mutation loci: allele distributions in different populations. Ann Hum Genet 1996; 60: 391-400.
37. Sirugo G, Deinard AS, Kidd JR, Kidd KK. Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: total genome scan in populations using the Repeat Expansion Detection method. Hum Mol Genet 1997; 6: 403-408.
38. Lindblad K, Savontaus, M-L, Stevanin G, Holmberg M, Digre K, Zander C et al. CAG repeat expansions in spinocerebellar ataxia type 7. Genome Res 1996; 6: 965-971.
39. Zander C, Burgess CE, Johansen J, Lindblad K, Hudson T, Schalling M. Repeat Expansion Detection. In: Taylor GR (ed). Laboratory Methods for the Detection of Mutations and Polymorphisms in DNA. CRC Press: New York, 1997, pp 263-271.
40. Breschel TS, McInnis MG, Margolis RL, Sirugo G, Corneliussen B, Simpson SG et al. A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. Hum Mol Genet 1997; 6: 1855-1863.
41. Lindblad K, Nylander P-O, De Bruyn A, Sourey D, Zander C, Engstrom C et al. Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol Dis 1995; 2: 55-62.
42. Ikeuchi T, Sanpei K, Takano H, Sasaki H, Tashiro K, Cancel G et al. A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics 1998; (submitted).
43. Nakamoto M, Takebayashi H, Kawaguchi Y, Narumiya S, Taniwaki M, Nakamura Y et al. A CAG/CTG expansion in the normal population. Nat Genet 1997; 17: 385-386.
44. Lindblad K, Nylander P-O, Zander C, Yuan Q-P, Ståhle L, Engström C et al. Two commonly expanded CAG/CTG repeat loci: involvement in affective disorders? Mol Psychiatry 1998; (in press).
45. Sidransky E, Burgess C, Ikeuchi T, Lindblad K, Long RT, Philibert RA et al. A triplet repeat on 17q accounts for most expansions detected by the RED technique. Am J Hum Genet 1998; (in press).