Literature DB >> 21465148

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

Susanne A Schneider1, Christine Klein.   

Abstract

Genetic testing holds many promises in movement disorders, but also pitfalls that require careful consideration for meaningful results. These include the primary indication for testing in the first place, concerns regarding the implications of symptomatic, presymptomatic, and susceptibility testing, the mutation frequency in the gene of interest, the general lack of neuroprotective treatment options for neurodegenerative movement disorders, the prognosis of the condition diagnosed, and patient confidentiality concerns. Furthermore, new technical achievements and the available technical expertise, feasibility of specific gene testing, and its coverage through a health insurance carrier should be considered. Guidelines for testing have been established by some disease societies to advise clinicians and in parallel legal regulations are being adjusted at a national and international level. We review these and other critical points and recent developments regarding genetic testing in the field of movement disorders.

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Year:  2011        PMID: 21465148     DOI: 10.1007/s11910-011-0200-4

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  47 in total

1.  Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases.

Authors:  Niels Morling; Robert W Allen; Angel Carracedo; Helena Geada; Francois Guidet; Charlotte Hallenberg; Wolfgang Martin; Wolfgang R Mayr; Bjørnar Olaisen; Vince L Pascali; Peter M Schneider
Journal:  Forensic Sci Int       Date:  2002-10-09       Impact factor: 2.395

Review 2.  Genetic information and testing in insurance and employment: technical, social and ethical issues.

Authors:  Béatrice Godard; Sandy Raeburn; Marcus Pembrey; Martin Bobrow; Peter Farndon; Ségolène Aymé
Journal:  Eur J Hum Genet       Date:  2003-12       Impact factor: 4.246

3.  Attitudes of persons at risk and their partners toward predictive testing.

Authors:  G A Jacopini; R D'Amico; M Frontali; G Vivona
Journal:  Birth Defects Orig Artic Ser       Date:  1992

Review 4.  Novel genomic techniques open new avenues in the analysis of monogenic disorders.

Authors:  Gregor Kuhlenbäumer; Julia Hullmann; Silke Appenzeller
Journal:  Hum Mutat       Date:  2011-02       Impact factor: 4.878

5.  PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

Authors:  K Sermon; S Seneca; M De Rycke; V Goossens; H Van de Velde; A De Vos; P Platteau; W Lissens; A Van Steirteghem; I Liebaers
Journal:  Mol Cell Endocrinol       Date:  2001-10-22       Impact factor: 4.102

6.  Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay.

Authors:  Julie Ann Edgeworth; Michael Farmer; Anita Sicilia; Paul Tavares; Jonathan Beck; Tracy Campbell; Jessica Lowe; Simon Mead; Peter Rudge; John Collinge; Graham S Jackson
Journal:  Lancet       Date:  2011-02-05       Impact factor: 79.321

Review 7.  Complicated recessive dystonia parkinsonism syndromes.

Authors:  Susanne A Schneider; Kailash P Bhatia; John Hardy
Journal:  Mov Disord       Date:  2009-03-15       Impact factor: 10.338

Review 8.  Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond.

Authors:  Christine Klein; Susanne A Schneider; Anthony E Lang
Journal:  Mov Disord       Date:  2009-10-30       Impact factor: 10.338

9.  Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.

Authors:  Neil J Risch; Susan B Bressman; Geetha Senthil; Laurie J Ozelius
Journal:  Am J Hum Genet       Date:  2007-04-27       Impact factor: 11.025

10.  Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey.

Authors:  Yvonne Bombard; Gerry Veenstra; Jan M Friedman; Susan Creighton; Lauren Currie; Jane S Paulsen; Joan L Bottorff; Michael R Hayden
Journal:  BMJ       Date:  2009-06-09
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  1 in total

1.  Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.

Authors:  Abhilasha Surampalli; Manaswitha Khare; Georgette Kubrussi; Marie Wencel; Jasmin Tanaja; Sandra Donkervoort; Kathryn Osann; Mariella Simon; Douglas Wallace; Charles Smith; Aideen M McInerney-Leo; Virginia Kimonis
Journal:  J Genet Couns       Date:  2015-02-26       Impact factor: 2.537

  1 in total

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