Genetic testing in Parkinson's disease
Identifieur interne : 001487 ( Main/Exploration ); précédent : 001486; suivant : 001488Genetic testing in Parkinson's disease
Auteurs : Aideen Mcinerney-Leo [États-Unis] ; Donald W. Hadley [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; John Hardy [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-01.
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Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder of adulthood characterized clinically by rigidity, bradykinesia, resting tremor, and postural instability. The annual incidence of PD ranges between 16 and 19 individuals per 100,000 (Twelves et al., Mov Disord 2003;18:19–31). Historically, PD has been commonly viewed as an idiopathic or environmentally triggered condition. However, as is true with most common conditions, there have been several families reported with PD who demonstrate a classic Mendelian pattern of inheritance. To date, nine genetic loci have been reported and four pathogenic genes have been identified: α‐synuclein, parkin, DJ1, and PINK1. Families with alterations in these genes or linked sites demonstrate either recessive or dominant inheritance patterns and may have typical and/or atypical symptoms, with an age of onset extending from the second to the sixth decade. Commercial tests for parkin and α‐synuclein mutations are now available. We predict that physicians, particularly neurologists, increasingly will be approached for information and referrals regarding genetic testing. To assist patients and their families, physicians will not only need to know when such testing is likely to yield a meaningful result but also be aware of the possible social and emotional consequences of testing. The following is a review of what is currently known about the genetics of PD within this context. We discuss what is known about genetic testing for Huntington's disease, a well‐described model for genetic testing in a neurodegenerative disorder. We explore the utility, appropriateness, and possible implications of genetic testing for diagnostic and presymptomatic purposes. Published 2004 John Wiley & Sons
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DOI: 10.1002/mds.20316
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Hadley</name></author><author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:3D9125A0924D40DF8DC9B8BE8CDDCE5B1B03A245</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/mds.20316</idno><idno type="url">https://api.istex.fr/document/3D9125A0924D40DF8DC9B8BE8CDDCE5B1B03A245/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000765</idno><idno type="wicri:Area/Main/Curation">000667</idno><idno type="wicri:Area/Main/Exploration">001487</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genetic testing in Parkinson's disease</title><author><name sortKey="Mcinerney Eo, Aideen" sort="Mcinerney Eo, Aideen" uniqKey="Mcinerney Eo A" first="Aideen" last="Mcinerney-Leo">Aideen Mcinerney-Leo</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Hadley, Donald W" sort="Hadley, Donald W" uniqKey="Hadley D" first="Donald W." last="Hadley">Donald W. 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The annual incidence of PD ranges between 16 and 19 individuals per 100,000 (Twelves et al., Mov Disord 2003;18:19–31). Historically, PD has been commonly viewed as an idiopathic or environmentally triggered condition. However, as is true with most common conditions, there have been several families reported with PD who demonstrate a classic Mendelian pattern of inheritance. To date, nine genetic loci have been reported and four pathogenic genes have been identified: α‐synuclein, parkin, DJ1, and PINK1. Families with alterations in these genes or linked sites demonstrate either recessive or dominant inheritance patterns and may have typical and/or atypical symptoms, with an age of onset extending from the second to the sixth decade. Commercial tests for parkin and α‐synuclein mutations are now available. We predict that physicians, particularly neurologists, increasingly will be approached for information and referrals regarding genetic testing. To assist patients and their families, physicians will not only need to know when such testing is likely to yield a meaningful result but also be aware of the possible social and emotional consequences of testing. The following is a review of what is currently known about the genetics of PD within this context. We discuss what is known about genetic testing for Huntington's disease, a well‐described model for genetic testing in a neurodegenerative disorder. We explore the utility, appropriateness, and possible implications of genetic testing for diagnostic and presymptomatic purposes. Published 2004 John Wiley & Sons</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li></region></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Mcinerney Eo, Aideen" sort="Mcinerney Eo, Aideen" uniqKey="Mcinerney Eo A" first="Aideen" last="Mcinerney-Leo">Aideen Mcinerney-Leo</name></region><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><name sortKey="Hadley, Donald W" sort="Hadley, Donald W" uniqKey="Hadley D" first="Donald W." last="Hadley">Donald W. Hadley</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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