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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
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Public Library of Science (PLoS)
2012-01-01
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Series: | PLoS ONE |
Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22952715/pdf/?tool=EBI |
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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 |
collection | DOAJ |
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. |
first_indexed | 2024-12-18T02:15:13Z |
format | Article |
id | doaj.art-cea12965f5354884b9830decd12e6ed5 |
institution | Directory Open Access Journal |
issn | 1932-6203 |
language | English |
last_indexed | 2024-12-18T02:15:13Z |
publishDate | 2012-01-01 |
publisher | Public Library of Science (PLoS) |
record_format | Article |
series | PLoS ONE |
spelling | doaj.art-cea12965f5354884b9830decd12e6ed52022-12-21T21:24:23ZengPublic Library of Science (PLoS)PLoS ONE1932-62032012-01-0178e4359510.1371/journal.pone.0043595Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.Judith A PotashkinJose A SantiagoBernard M RavinaArthur WattsAlexey A LeontovichDiagnosis 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.https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22952715/pdf/?tool=EBI |
spellingShingle | Judith A Potashkin Jose A Santiago Bernard M Ravina Arthur Watts Alexey A Leontovich Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients. PLoS ONE |
title | 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_short | Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients. |
title_sort | biosignatures for parkinson s disease and atypical parkinsonian disorders patients |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22952715/pdf/?tool=EBI |
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