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Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease
Essential tremor (ET) and Parkinson’s disease (PD) are among the most common adult-onset tremor disorders. Clinical and pathological studies suggest that misdiagnosis of PD for ET, and vice versa, occur in anywhere from 15% to 35% of cases. Complex diagnostic procedures, such as dopamine transporter...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PeerJ Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055592/ https://www.ncbi.nlm.nih.gov/pubmed/30042899 http://dx.doi.org/10.7717/peerj.5308 |
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author | Molparia, Bhuvan Schrader, Brian N. Cohen, Eli Wagner, Jennifer L. Gupta, Sandeep R. Gould, Sherrie Hwynn, Nelson Spencer, Emily G. Torkamani, Ali |
author_facet | Molparia, Bhuvan Schrader, Brian N. Cohen, Eli Wagner, Jennifer L. Gupta, Sandeep R. Gould, Sherrie Hwynn, Nelson Spencer, Emily G. Torkamani, Ali |
author_sort | Molparia, Bhuvan |
collection | PubMed |
description | Essential tremor (ET) and Parkinson’s disease (PD) are among the most common adult-onset tremor disorders. Clinical and pathological studies suggest that misdiagnosis of PD for ET, and vice versa, occur in anywhere from 15% to 35% of cases. Complex diagnostic procedures, such as dopamine transporter imaging, can be powerful diagnostic aids but are lengthy and expensive procedures that are not widely available. Preliminary studies suggest that monitoring of tremor characteristics with consumer grade accelerometer devices could be a more accessible approach to the discrimination of PD from ET, but these studies have been performed in well-controlled clinical settings requiring multiple maneuvers and oversight from clinical or research staff, and thus may not be representative of at-home monitoring in the community setting. Therefore, we set out to determine whether discrimination of PD vs. ET diagnosis could be achieved by monitoring research subject movements at home using consumer grade devices, and whether discrimination could be improved with the addition of genetic profiling of the type that is readily available through direct-to-consumer genetic testing services. Forty subjects with PD and 27 patients with ET were genetically profiled and had their movements characterized three-times a day for two weeks through a simple procedure meant to induce rest tremors. We found that tremor characteristics could be used to predict diagnosis status (sensitivity = 76%, specificity = 65%, area under the curve (AUC) = 0.75), but that the addition of genetic risk information, via a PD polygenic risk score, did not improve discriminatory power (sensitivity = 80%, specificity = 65%, AUC = 0.73). |
format | Online Article Text |
id | pubmed-6055592 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | PeerJ Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-60555922018-07-24 Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease Molparia, Bhuvan Schrader, Brian N. Cohen, Eli Wagner, Jennifer L. Gupta, Sandeep R. Gould, Sherrie Hwynn, Nelson Spencer, Emily G. Torkamani, Ali PeerJ Computational Biology Essential tremor (ET) and Parkinson’s disease (PD) are among the most common adult-onset tremor disorders. Clinical and pathological studies suggest that misdiagnosis of PD for ET, and vice versa, occur in anywhere from 15% to 35% of cases. Complex diagnostic procedures, such as dopamine transporter imaging, can be powerful diagnostic aids but are lengthy and expensive procedures that are not widely available. Preliminary studies suggest that monitoring of tremor characteristics with consumer grade accelerometer devices could be a more accessible approach to the discrimination of PD from ET, but these studies have been performed in well-controlled clinical settings requiring multiple maneuvers and oversight from clinical or research staff, and thus may not be representative of at-home monitoring in the community setting. Therefore, we set out to determine whether discrimination of PD vs. ET diagnosis could be achieved by monitoring research subject movements at home using consumer grade devices, and whether discrimination could be improved with the addition of genetic profiling of the type that is readily available through direct-to-consumer genetic testing services. Forty subjects with PD and 27 patients with ET were genetically profiled and had their movements characterized three-times a day for two weeks through a simple procedure meant to induce rest tremors. We found that tremor characteristics could be used to predict diagnosis status (sensitivity = 76%, specificity = 65%, area under the curve (AUC) = 0.75), but that the addition of genetic risk information, via a PD polygenic risk score, did not improve discriminatory power (sensitivity = 80%, specificity = 65%, AUC = 0.73). PeerJ Inc. 2018-07-20 /pmc/articles/PMC6055592/ /pubmed/30042899 http://dx.doi.org/10.7717/peerj.5308 Text en © 2018 Molparia et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited. |
spellingShingle | Computational Biology Molparia, Bhuvan Schrader, Brian N. Cohen, Eli Wagner, Jennifer L. Gupta, Sandeep R. Gould, Sherrie Hwynn, Nelson Spencer, Emily G. Torkamani, Ali Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease |
title | Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease |
title_full | Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease |
title_fullStr | Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease |
title_full_unstemmed | Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease |
title_short | Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease |
title_sort | combined accelerometer and genetic analysis to differentiate essential tremor from parkinson’s disease |
topic | Computational Biology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055592/ https://www.ncbi.nlm.nih.gov/pubmed/30042899 http://dx.doi.org/10.7717/peerj.5308 |
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