دورية أكاديمية
Genetic testing in Parkinson's disease
| العنوان: | Genetic testing in Parkinson's disease |
|---|---|
| المؤلفون: | McInerney-Leo, Aideen, Hadley, Donald W., Gwinn-Hardy, Katrina, Hardy, John |
| المصدر: | Movement Disorders |
| بيانات النشر: | John Wiley & Sons |
| سنة النشر: | 2005 |
| المجموعة: | Queensland University of Technology: QUT ePrints |
| مصطلحات موضوعية: | Family Health, Humans, Huntington Disease/diagnosis/genetics, Intracellular Signaling Peptides and Proteins, Molecular Diagnostic Techniques/*methods, Nerve Tissue Proteins/*genetics, Oncogene Proteins/genetics, Parkinson Disease/*diagnosis/etiology/*genetics, Protein Deglycase DJ-1, Protein Kinases/genetics, Synucleins, Ubiquitin-Protein Ligases/genetics, alpha-Synuclein |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| العلاقة: | McInerney-Leo, Aideen, Hadley, Donald W., Gwinn-Hardy, Katrina, & Hardy, John (2005) Genetic testing in Parkinson's disease. Movement Disorders, 20(1), pp. 1-10.; https://eprints.qut.edu.au/110202Test/; Faculty of Health; School of Biomedical Sciences |
| الإتاحة: | https://doi.org/10.1002/mds.20316Test https://eprints.qut.edu.au/110202Test/ |
| حقوق: | Copyright 2005 Movement Disorder Society ; This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au |
| رقم الانضمام: | edsbas.E248D96 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |