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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...

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Autores principales: Molparia, Bhuvan, Schrader, Brian N., Cohen, Eli, Wagner, Jennifer L., Gupta, Sandeep R., Gould, Sherrie, Hwynn, Nelson, Spencer, Emily G., Torkamani, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2018
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).
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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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