Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.

Diagnosis of Parkinson' disease (PD) carries a high misdiagnosis rate due to failure to recognize atypical parkinsonian disorders (APD). Usually by the time of diagnosis greater than 60% of the neurons in the substantia nigra are dead. Therefore, early detection would be beneficial so that ther...

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Autores principales: Judith A Potashkin, Jose A Santiago, Bernard M Ravina, Arthur Watts, Alexey A Leontovich
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Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
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Acceso en línea:https://doaj.org/article/cea12965f5354884b9830decd12e6ed5
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spelling oai:doaj.org-article:cea12965f5354884b9830decd12e6ed52021-11-18T07:07:33ZBiosignatures for Parkinson's disease and atypical parkinsonian disorders patients.1932-620310.1371/journal.pone.0043595https://doaj.org/article/cea12965f5354884b9830decd12e6ed52012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22952715/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Diagnosis of Parkinson' disease (PD) carries a high misdiagnosis rate due to failure to recognize atypical parkinsonian disorders (APD). Usually by the time of diagnosis greater than 60% of the neurons in the substantia nigra are dead. Therefore, early detection would be beneficial so that therapeutic intervention may be initiated early in the disease process. We used splice variant-specific microarrays to identify mRNAs whose expression is altered in peripheral blood of early-stage PD patients compared to healthy and neurodegenerative disease controls. Quantitative polymerase chain reaction assays were used to validate splice variant transcripts in independent sample sets. Here we report a PD signature used to classify blinded samples with 90% sensitivity and 94% specificity and an APD signature that resulted in a diagnosis with 95% sensitivity and 94% specificity. This study provides the first discriminant functions with coherent diagnostic signatures for PD and APD. Analysis of the PD biomarkers identified a regulatory network with nodes centered on the transcription factors HNF4A and TNF, which have been implicated in insulin regulation.Judith A PotashkinJose A SantiagoBernard M RavinaArthur WattsAlexey A LeontovichPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 8, p e43595 (2012)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Judith A Potashkin
Jose A Santiago
Bernard M Ravina
Arthur Watts
Alexey A Leontovich
Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.
description Diagnosis of Parkinson' disease (PD) carries a high misdiagnosis rate due to failure to recognize atypical parkinsonian disorders (APD). Usually by the time of diagnosis greater than 60% of the neurons in the substantia nigra are dead. Therefore, early detection would be beneficial so that therapeutic intervention may be initiated early in the disease process. We used splice variant-specific microarrays to identify mRNAs whose expression is altered in peripheral blood of early-stage PD patients compared to healthy and neurodegenerative disease controls. Quantitative polymerase chain reaction assays were used to validate splice variant transcripts in independent sample sets. Here we report a PD signature used to classify blinded samples with 90% sensitivity and 94% specificity and an APD signature that resulted in a diagnosis with 95% sensitivity and 94% specificity. This study provides the first discriminant functions with coherent diagnostic signatures for PD and APD. Analysis of the PD biomarkers identified a regulatory network with nodes centered on the transcription factors HNF4A and TNF, which have been implicated in insulin regulation.
format article
author Judith A Potashkin
Jose A Santiago
Bernard M Ravina
Arthur Watts
Alexey A Leontovich
author_facet Judith A Potashkin
Jose A Santiago
Bernard M Ravina
Arthur Watts
Alexey A Leontovich
author_sort Judith A Potashkin
title Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.
title_short Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.
title_full Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.
title_fullStr Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.
title_full_unstemmed Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.
title_sort biosignatures for parkinson's disease and atypical parkinsonian disorders patients.
publisher Public Library of Science (PLoS)
publishDate 2012
url https://doaj.org/article/cea12965f5354884b9830decd12e6ed5
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