Literature DB >> 8133503

Predictive testing for Huntington's disease: after the gene. The United Kingdom Huntington's Disease Prediction Consortium.

S A Simpson1, A E Harding.   

Abstract

The discovery of a mutation responsible for Huntington's disease (HD) offers the possibility of accurate predictive testing, as well as hope for treatment or prevention of this disease. We urge caution in the use of this new test as considerable ethical and counselling problems still exist, and new issues have arisen. The current guidelines for predictive testing should still apply, since it remains vital that subjects and their families have time to come to terms with the diagnosis of HD, and the implications of testing. Mutation analysis may allow the diagnosis of HD in isolated cases, or reverse a test result produced using linkage. Problems will arise as those at 25% risk may now receive a result despite the lack of support of their parent at 50% risk who may not wish to have their own status defined. In addition, couples who seek the exclusion test in pregnancy may find it difficult to investigate the pregnancy without producing information on themselves. Different centres should cooperate in maintaining the confidentiality of family members, ensuring that adequate counselling is given before results are produced which may affect the wider family.

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Year:  1993        PMID: 8133503      PMCID: PMC1016640          DOI: 10.1136/jmg.30.12.1036

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  One hundred requests for predictive testing for Huntington's disease.

Authors:  S A Simpson; J Besson; D Alexander; K Allan; A W Johnston
Journal:  Clin Genet       Date:  1992-06       Impact factor: 4.438

2.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

3.  Presymptomatic testing for Huntington's disease in the United Kingdom. The United Kingdom Huntington's Disease Prediction Consortium.

Authors:  A Tyler; D Ball; D Craufurd
Journal:  BMJ       Date:  1992-06-20

4.  Predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium.

Authors:  D Craufurd; A Tyler
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

5.  Research samples from families with genetic diseases: a proposed code of conduct.

Authors:  P S Harper
Journal:  BMJ       Date:  1993-05-22
  5 in total
  6 in total

1.  Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup.

Authors:  A C DudokdeWit; A Tibben; H J Duivenvoorden; M F Niermeijer; J Passchier
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

2.  Negotiating responsibility: case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease.

Authors:  Claudia Downing
Journal:  J Genet Couns       Date:  2005-06       Impact factor: 2.537

Review 3.  A specific mutation for Huntington's disease.

Authors:  P S Harper
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

4.  Genetic prediction of adult onset disease.

Authors:  S A Simpson; J C Dean; N Haites
Journal:  BMJ       Date:  1994-02-19

5.  Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.

Authors:  C T Jones; R J Swingler; S A Simpson; D J Brock
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

6.  Proceed with care: direct predictive testing for Huntington disease.

Authors:  C M Benjamin; S Adam; S Wiggins; J L Theilmann; T T Copley; M Bloch; F Squitieri; W McKellin; S Cox; S A Brown
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

  6 in total

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