Presymptomatic testing for Huntington's disease by linkage and by direct mutation analysis: Comparison of uptake of testing and characteristics of test applicants

Genetic Counseling

Volumn 9, Issue 2, 1998, Pages 103-111

  Holloway, S M ^a   Porteous, M E M ^a   Fitzpatrick, D R ^a   Crosbie, A E ^a   Cetnarskyj, R ^a   Warner, J ^a   Barron, L ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Huntington disease; Predictive testing; Programme evaluation

Indexed keywords

ARTICLE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC RISK; GENETIC SCREENING; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MALE;

ADULT; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; HUNTINGTON DISEASE; LINKAGE (GENETICS); MALE; MIDDLE AGED; PATIENT ACCEPTANCE OF HEALTH CARE;

EID: 0031746970     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. BABUL R., ADAM S., KREMER B., DUFRASNE S., WIGGINS S., HUGGINS M., THEILMAN J., BLOCH M. and HAYDEN M.R.: Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease. JAMA, 1993, 270, 2321-2325.
2. BENJAMIN C.M., ADAM S., WIGGINS S., THEILMANN J.L., COPLEY T.T., BLOCH M., SQUITIERI F., MCKELLIN W., COX S., BROWN S.A., KREMER H.P.H., BURGESS M., MESHINO W., SUMMERS A., MACGREGOR D., BUCHANAN J., GREENBERG C., CARSON N., IVES E., FRECKER M., WELCH J.P., FULLER A., ROSENBLATT D., MILLER S., DUFRASNE S., ROY M., ANDERMANN E., PREVOST C., KHALIFA M., GIRANI K., TAYLOR S., HUNTER A., GOLDSMITH C., WHELAN D., EISENBERG D., SOLTAN H., KANE J., SHOKEIR M.H.K., GIBSON A., CARDWELL S., BAMFORTH S., GROVER S., SUCHOWERSKY O., KLIMEK M., GARBER T., GARDNER H.A., MACLEOD P. and HAYDEN M.R.: Proceed with Care: Direct Predictive Testing for Huntington Disease. Am. J. Hum. Genet., 1994, 55, 606-617.
3. CODORI A.M. and BRANDT J.: Psychological costs and benefits of predictive testing for Huntington's disease. Am. J. Med. Genet., 1994, 54, 174-184.
4. CODORI A.M., HANSON R. and BRANDT J.: Self-selection in predictive testing for Huntington's disease. Am J. Med. Genet., 1994, 54, 167-173.
5. DECRUYENAERE M., EVERS-KIEBOOMS G., BOOGAERTS A., CASSIMAN J.J., CLOOSTERMANS T., DEMYTTENAERE K., DOM R., FRYNS J.P. and VAN DEN BERGHE H.: Predictive testing for Huntington's Disease: Risk perception, reasons for testing and psychological profile of test applicants. Genet. Counsel., 1995, 6, 1-13.
6. DECRUYENAERE M., EVERS-KIEBOOMS G., BOOGAERTS A., CASSIMAN J.J., CLOOSTERMANS T., DEMYTTENAERE K., DOM R., FRYNS J.P. and VAN DEN BERGHE H.: Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J. Med. Genet., 1996, 33, 737-743.
7. DURR A., DODE C., HAHN V., PECHEUX C., PILLON B., FEINGOLD J., KAPLAN J.C., AGID Y. and BRICE A.: Diagnosis of «sporadic» Huntington's disease. J Neurol. Sci., 1995, 129, 51-55.
8. GOLDBERG Y.P., KREMER B., ANDREW S.E., THEILMAN J., GRAHAM R.K., SQUITIERI F., TELENIUS H., ADAM S., SAJOO A., STARR E., HEIBERG A., WOLFF G. and HAYDEN M.R., Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects Nature Genetics, 1993, 5, 174-179.
9. GUSELLA J.F., WEXLER N.S., CONNEALLY P.M., NAYLOR S.L., ANDERSON M.A., TANZI R.E., WATKINS P.C., OTTINA K., WALLACE M.R., SAKAGUCHI A.Y., YOUNG A.B., SHOULSON I., BONILLA E. and MARTIN J.B.: A polymorphic DNA marker genetically linked to Huntington's disease. Nature, 1983, 306, 234-238.
10. HERSCH S., JONES R., KOROSHETZ W. and QUAID K.: The neurogenetics genie: testing for the Huntington's disease mutation. Neurology, 1994, 44, 1369-1373.
11. HOLLOWAY S., MENNIE M., CROSBIE A., SMITH B., RAEBURN S., DINWOODIE D., WRIGHT A., MAY H., CALDER K., BARRON L. and BROCK D.J.H.: Predictive testing for Huntington disease: social characteristics and knowledge of applicants, attitudes to the test procedure and decisions made after testing. Clin. Genet., 1994, 46, 175-180.
12. HUNTINGTON'S DISEASE COLLABORATIVE RESEARCH GROUP. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes: Cell, 1993, 72, 971-983.
13. KREUZ F.R.: Attitudes of German persons at risk for Huntington's disease. Genet. Counsel., 1996, 7, 303-311.
14. MEISSEN G.J., MASTROMAURO C.A., KIELY D.K., MCNAMARA D.S. and MYERS R.H.: Understanding the decision to take the predictive test for Huntington Disease. Am. J. Med. Genet., 1991, 39, 404-410.
15. MENNIE M.E., HOLLOWAY S.M. and BROCK D.J.H.: Attitudes of general practitioners to presymptomatic testing for Huntington's disease. J. Med Genet., 1990, 27, 224-227.
16. ROSSER E., HUSON S.M. and NORBURY G.: Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease. Lancet, 1994, 343, 487-488.
17. SIMPSON S.A. and HARDING A.E.: Predictive testing for Huntington's disease: after the gene. The United Kingdom Huntington's Disease Prediction Consortium. J. Med. Genet., 1993, 50, 1036-1038.
18. THIES U., BOCKEL B. and BOCHDALOFSKY V.: Attitudes of neurologists, psychiatrists and psychotherapists towards predictive testing for Huntington's disease in Germany. J. Med. Genet., 1993, 30, 1023-1027.
19. THOMASSEN R., TIBBEN A., NIERMEIJER M.F., VAN DER DOES E., VAN DE KAMP J.J.P. and VERHAGE F.: Attitudes of Dutch general practitioners towards presymptomatic DNA-testing for Huntington disease. Clin. Genet., 1993, 43, 63-68.
20. TIBBEN A., FRETS P.G., VAN DE KAMP J.J., NIERMEIJER M.F., VEGTER-VAN DER VLIS M., ROOS R.A., VAN OMMEN G.J., DUIVENVOORDEN H.J. and VERHAGE F.: Presymptomatic DNA-testing for Huntington disease: pretest attitudes and expectations of applicants and their partners in the Dutch program. Am. J. Med. Genet., 1993, 48, 10-16.