Literature DB >> 10935839

Predictive testing for Huntington's disease: ten years' experience in two Italian centres.

P Mandich1, G Jacopini, E Di Maria, G Sabbadini, G Abbruzzese, F Chimirri, E Bellone, A Novelletto, F Ajmar, M Frontali.   

Abstract

Pre-symptomatic testing for Huntington's disease (HD) has been available as a clinical service in the medical centres of Rome and Genoa since December 1987, initially by DNA-linkage and since mid-1993 by direct mutation analysis. A multidisciplinary approach and a protocol which follows the Ethical Issue Policy Statement on Huntington's Disease Molecular Genetics Predictive Test has been used. In the period under study, 332 subjects requested the test, 288 were enrolled in the protocol and nearly half of these completed it. One hundred and forty-eight people withdrew from the testing procedure for various reasons but most frequently due to a more realistic evaluation of all possible consequences of test results, induced by psychological counselling. Therefore, 140 people completed the test. The overall gene-carrier/non-carrier ratio was 0.46:1. None of the identified gene carriers had catastrophic reactions such as suicide, suicide attempts or major psychiatric disorders. All appear to have had a similar pattern of reactions to an adverse result and none expressed regret for undergoing the test. In conclusion, presymptomatic testing for HD can be considered a safe procedure without adverse consequences when framed in an integrated protocol at qualified genetic centres.

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Year:  1998        PMID: 10935839     DOI: 10.1007/bf02427559

Source DB:  PubMed          Journal:  Ital J Neurol Sci        ISSN: 0392-0461


  17 in total

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Journal:  Nature       Date:  1986 Mar 6-12       Impact factor: 49.962

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Journal:  J Med Genet       Date:  1988-09       Impact factor: 6.318

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Journal:  N Engl J Med       Date:  1994-05-19       Impact factor: 91.245

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Authors: 
Journal:  Neurology       Date:  1994-08       Impact factor: 9.910

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Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

8.  A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes.

Authors:  J P Warner; L H Barron; D J Brock
Journal:  Mol Cell Probes       Date:  1993-06       Impact factor: 2.365

9.  Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk.

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Journal:  Am J Med Genet       Date:  1992-02-15

10.  Self-selection in predictive testing for Huntington's disease.

Authors:  A M Codori; R Hanson; J Brandt
Journal:  Am J Med Genet       Date:  1994-09-15
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  9 in total

1.  Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.

Authors:  Kunihiro Yoshida; Takahito Wada; Akihiro Sakurai; Keiko Wakui; Shu-Ichi Ikeda; Yoshimitsu Fukushima
Journal:  J Hum Genet       Date:  2007-07-05       Impact factor: 3.172

2.  Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.

Authors:  Caroline Santa Maria Rodrigues; Viviane Ziebell de Oliveira; Gabriela Camargo; Claudio Maria da Silva Osório; Raphael Machado de Castilhos; Maria Luiza Saraiva-Pereira; Lavínia Schuler-Faccini; Laura Bannach Jardim
Journal:  J Genet Couns       Date:  2011-06-30       Impact factor: 2.537

3.  Predictive testing and clinical trials in Huntington's disease: An ethical analysis.

Authors:  Cristina Sampaio; Jamie Levey; Robert Klitzman
Journal:  Mov Disord       Date:  2017-12-04       Impact factor: 10.338

4.  Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.

Authors:  Aysegül Ibisler; Sebastian Ocklenburg; Susanne Stemmler; Larissa Arning; Jörg T Epplen; Carsten Saft; Sabine Hoffjan
Journal:  J Genet Couns       Date:  2017-03-30       Impact factor: 2.537

Review 5.  What is the role of genetic testing in movement disorders practice?

Authors:  Susanne A Schneider; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2011-08       Impact factor: 5.081

6.  Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).

Authors:  Christiane Bernhardt; Anne-Marie Schwan; Peter Kraus; Joerg Thomas Epplen; Erdmute Kunstmann
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

7.  Long-term outcome of presymptomatic testing in Huntington disease.

Authors:  Marcela Gargiulo; Séverine Lejeune; Marie-Laure Tanguy; Khadija Lahlou-Laforêt; Anne Faudet; David Cohen; Josué Feingold; Alexandra Durr
Journal:  Eur J Hum Genet       Date:  2008-08-20       Impact factor: 4.246

8.  1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.

Authors:  Paola Mandich; Merit Lamp; Fabio Gotta; Rossella Gulli; Ariela Iacometti; Roberta Marchese; Emilia Bellone; Giovanni Abbruzzese; Giovanna Ferrandes
Journal:  Mol Genet Genomic Med       Date:  2017-06-17       Impact factor: 2.183

9.  Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.

Authors:  Anna Mega; Samantha Galluzzi; Cristian Bonvicini; Silvia Fostinelli; Massimo Gennarelli; Cristina Geroldi; Orazio Zanetti; Luisa Benussi; Emilio Di Maria; Giovanni B Frisoni
Journal:  Alzheimers Res Ther       Date:  2020-11-17       Impact factor: 6.982

  9 in total

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