Title
Parkinson disease : insights in clinical, genetic and pathological features of monogenic disease subtypesParkinson disease : insights in clinical, genetic and pathological features of monogenic disease subtypes
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Research group
Translational Neurosciences (TNW)
VIB DMG - Neurodegenerative Brain Diseases Group
Publication type
article
Publication
New York,
Subject
Human medicine
Source (journal)
Journal of chemical neuroanatomy. - New York
Volume/pages
42(2011):2, p. 131-141
ISSN
0891-0618
ISI
000295247600006
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
In the past 15 years, insights in clinical and genetic characteristics of Parkinson disease (PD) have increased substantially. Sequence or copy number variants in at least six genes (SNCA, LRRK2, PARK2, PINK1, DJ-1 and ATP13A2) have been identified to cause monogenic forms of PD. Routine clinical testing for mutations in these genes is feasible and available, but overlapping phenotypes in monogenic and sporadic PD complicate straightforward diagnostic screening. Primarily, a positive familial history and an early onset age should prompt clinicians to consider genetic testing. Based on a literature review on clinical and neuropathological features of PD patients carrying a pathogenic mutation we propose guidelines for genetic diagnostic testing in clinical practice. However, the absence of disease-modifying therapies and the variable penetrance of most known mutations currently limit the usefulness of genetic diagnostic testing for PD in clinical practice.
E-info
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