Loading…
Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations
Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Parkinson disease, although the penetrance is low. We performed [18F]‐fluorodopa positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonism) and 98 co...
Saved in:
Published in: | Annals of neurology 2020-04, Vol.87 (4), p.652-657 |
---|---|
Main Authors: | , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
cited_by | cdi_FETCH-LOGICAL-c3532-e76cbe6f176c5c42c69ef90247d8370b038040b26184dfa0449b4353463161d43 |
---|---|
cites | cdi_FETCH-LOGICAL-c3532-e76cbe6f176c5c42c69ef90247d8370b038040b26184dfa0449b4353463161d43 |
container_end_page | 657 |
container_issue | 4 |
container_start_page | 652 |
container_title | Annals of neurology |
container_volume | 87 |
creator | Lopez, Grisel Eisenberg, Daniel P. Gregory, Michael D. Ianni, Angela M. Grogans, Shannon E. Masdeu, Joseph C. Kim, Jenny Groden, Catherine Sidransky, Ellen Berman, Karen F. |
description | Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Parkinson disease, although the penetrance is low. We performed [18F]‐fluorodopa positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonism) and 98 controls looking for early indications of dopamine loss using voxelwise analyses to identify group differences in striatal [18F]‐fluorodopa uptake (Ki). Forty‐eight subjects were followed longitudinally. Cross‐sectional and longitudinal comparisons of Ki and Ki change found significant effects of Parkinson disease. However, at baseline and over time, striatal [18F]‐fluorodopa uptake in mutation carriers without parkinsonism did not significantly differ from controls. ANN NEUROL 2020;87:652–657 |
doi_str_mv | 10.1002/ana.25692 |
format | article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2352632686</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2377321928</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3532-e76cbe6f176c5c42c69ef90247d8370b038040b26184dfa0449b4353463161d43</originalsourceid><addsrcrecordid>eNp10MlOwzAQBmALgaAsB14AWeICh9DxEic5llIWqSwScLacxKGukjjEiaq8PYYAByROM4dvfml-hI4JXBAAOlW1uqChSOgWmpCQkSCmPNlGE2CCByFhfA_tO7cGgEQQ2EV7jAKDKCETJJe2fjNdn5talfjJOtO1tsaLyjhn_PJiK_vWqmY1YFvgK9uoytQaPw91t9LOOGxq_Nyna511Dm9Mt8I3lzOC7_tOdf7eHaKdQpVOH33PA_R6vXiZ3wbLx5u7-WwZZCxkNNCRyFItCuJnmHGaiUQXCVAe5TGLIAUWA4eUChLzvFDAeZJyf8kFI4LknB2gszG3ae17r10n_QeZLktVa9s7SVlIBaMiFp6e_qFr27f-_U8VRYyShMZenY8qa61zrS5k05pKtYMkID9bl751-dW6tyffiX1a6fxX_tTswXQEG1Pq4f8kOXuYjZEf3ZSJtw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2377321928</pqid></control><display><type>article</type><title>Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations</title><source>Wiley Online Library</source><creator>Lopez, Grisel ; Eisenberg, Daniel P. ; Gregory, Michael D. ; Ianni, Angela M. ; Grogans, Shannon E. ; Masdeu, Joseph C. ; Kim, Jenny ; Groden, Catherine ; Sidransky, Ellen ; Berman, Karen F.</creator><creatorcontrib>Lopez, Grisel ; Eisenberg, Daniel P. ; Gregory, Michael D. ; Ianni, Angela M. ; Grogans, Shannon E. ; Masdeu, Joseph C. ; Kim, Jenny ; Groden, Catherine ; Sidransky, Ellen ; Berman, Karen F.</creatorcontrib><description>Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Parkinson disease, although the penetrance is low. We performed [18F]‐fluorodopa positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonism) and 98 controls looking for early indications of dopamine loss using voxelwise analyses to identify group differences in striatal [18F]‐fluorodopa uptake (Ki). Forty‐eight subjects were followed longitudinally. Cross‐sectional and longitudinal comparisons of Ki and Ki change found significant effects of Parkinson disease. However, at baseline and over time, striatal [18F]‐fluorodopa uptake in mutation carriers without parkinsonism did not significantly differ from controls. ANN NEUROL 2020;87:652–657</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.25692</identifier><identifier>PMID: 32030791</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Dopamine ; Emission analysis ; Gaucher's disease ; Health risks ; Movement disorders ; Mutation ; Neostriatum ; Neurodegenerative diseases ; Parkinson's disease ; Positron emission ; Positron emission tomography ; Risk analysis ; Risk factors ; Tomography</subject><ispartof>Annals of neurology, 2020-04, Vol.87 (4), p.652-657</ispartof><rights>2020 American Neurological Association</rights><rights>2020 American Neurological Association.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3532-e76cbe6f176c5c42c69ef90247d8370b038040b26184dfa0449b4353463161d43</citedby><cites>FETCH-LOGICAL-c3532-e76cbe6f176c5c42c69ef90247d8370b038040b26184dfa0449b4353463161d43</cites><orcidid>0000-0001-9955-6954 ; 0000-0002-3019-8500</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.25692$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.25692$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,786,790,27957,27958,50923,51032</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32030791$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lopez, Grisel</creatorcontrib><creatorcontrib>Eisenberg, Daniel P.</creatorcontrib><creatorcontrib>Gregory, Michael D.</creatorcontrib><creatorcontrib>Ianni, Angela M.</creatorcontrib><creatorcontrib>Grogans, Shannon E.</creatorcontrib><creatorcontrib>Masdeu, Joseph C.</creatorcontrib><creatorcontrib>Kim, Jenny</creatorcontrib><creatorcontrib>Groden, Catherine</creatorcontrib><creatorcontrib>Sidransky, Ellen</creatorcontrib><creatorcontrib>Berman, Karen F.</creatorcontrib><title>Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Parkinson disease, although the penetrance is low. We performed [18F]‐fluorodopa positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonism) and 98 controls looking for early indications of dopamine loss using voxelwise analyses to identify group differences in striatal [18F]‐fluorodopa uptake (Ki). Forty‐eight subjects were followed longitudinally. Cross‐sectional and longitudinal comparisons of Ki and Ki change found significant effects of Parkinson disease. However, at baseline and over time, striatal [18F]‐fluorodopa uptake in mutation carriers without parkinsonism did not significantly differ from controls. ANN NEUROL 2020;87:652–657</description><subject>Dopamine</subject><subject>Emission analysis</subject><subject>Gaucher's disease</subject><subject>Health risks</subject><subject>Movement disorders</subject><subject>Mutation</subject><subject>Neostriatum</subject><subject>Neurodegenerative diseases</subject><subject>Parkinson's disease</subject><subject>Positron emission</subject><subject>Positron emission tomography</subject><subject>Risk analysis</subject><subject>Risk factors</subject><subject>Tomography</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp10MlOwzAQBmALgaAsB14AWeICh9DxEic5llIWqSwScLacxKGukjjEiaq8PYYAByROM4dvfml-hI4JXBAAOlW1uqChSOgWmpCQkSCmPNlGE2CCByFhfA_tO7cGgEQQ2EV7jAKDKCETJJe2fjNdn5talfjJOtO1tsaLyjhn_PJiK_vWqmY1YFvgK9uoytQaPw91t9LOOGxq_Nyna511Dm9Mt8I3lzOC7_tOdf7eHaKdQpVOH33PA_R6vXiZ3wbLx5u7-WwZZCxkNNCRyFItCuJnmHGaiUQXCVAe5TGLIAUWA4eUChLzvFDAeZJyf8kFI4LknB2gszG3ae17r10n_QeZLktVa9s7SVlIBaMiFp6e_qFr27f-_U8VRYyShMZenY8qa61zrS5k05pKtYMkID9bl751-dW6tyffiX1a6fxX_tTswXQEG1Pq4f8kOXuYjZEf3ZSJtw</recordid><startdate>202004</startdate><enddate>202004</enddate><creator>Lopez, Grisel</creator><creator>Eisenberg, Daniel P.</creator><creator>Gregory, Michael D.</creator><creator>Ianni, Angela M.</creator><creator>Grogans, Shannon E.</creator><creator>Masdeu, Joseph C.</creator><creator>Kim, Jenny</creator><creator>Groden, Catherine</creator><creator>Sidransky, Ellen</creator><creator>Berman, Karen F.</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7U7</scope><scope>C1K</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-9955-6954</orcidid><orcidid>https://orcid.org/0000-0002-3019-8500</orcidid></search><sort><creationdate>202004</creationdate><title>Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations</title><author>Lopez, Grisel ; Eisenberg, Daniel P. ; Gregory, Michael D. ; Ianni, Angela M. ; Grogans, Shannon E. ; Masdeu, Joseph C. ; Kim, Jenny ; Groden, Catherine ; Sidransky, Ellen ; Berman, Karen F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3532-e76cbe6f176c5c42c69ef90247d8370b038040b26184dfa0449b4353463161d43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Dopamine</topic><topic>Emission analysis</topic><topic>Gaucher's disease</topic><topic>Health risks</topic><topic>Movement disorders</topic><topic>Mutation</topic><topic>Neostriatum</topic><topic>Neurodegenerative diseases</topic><topic>Parkinson's disease</topic><topic>Positron emission</topic><topic>Positron emission tomography</topic><topic>Risk analysis</topic><topic>Risk factors</topic><topic>Tomography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lopez, Grisel</creatorcontrib><creatorcontrib>Eisenberg, Daniel P.</creatorcontrib><creatorcontrib>Gregory, Michael D.</creatorcontrib><creatorcontrib>Ianni, Angela M.</creatorcontrib><creatorcontrib>Grogans, Shannon E.</creatorcontrib><creatorcontrib>Masdeu, Joseph C.</creatorcontrib><creatorcontrib>Kim, Jenny</creatorcontrib><creatorcontrib>Groden, Catherine</creatorcontrib><creatorcontrib>Sidransky, Ellen</creatorcontrib><creatorcontrib>Berman, Karen F.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lopez, Grisel</au><au>Eisenberg, Daniel P.</au><au>Gregory, Michael D.</au><au>Ianni, Angela M.</au><au>Grogans, Shannon E.</au><au>Masdeu, Joseph C.</au><au>Kim, Jenny</au><au>Groden, Catherine</au><au>Sidransky, Ellen</au><au>Berman, Karen F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2020-04</date><risdate>2020</risdate><volume>87</volume><issue>4</issue><spage>652</spage><epage>657</epage><pages>652-657</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Parkinson disease, although the penetrance is low. We performed [18F]‐fluorodopa positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonism) and 98 controls looking for early indications of dopamine loss using voxelwise analyses to identify group differences in striatal [18F]‐fluorodopa uptake (Ki). Forty‐eight subjects were followed longitudinally. Cross‐sectional and longitudinal comparisons of Ki and Ki change found significant effects of Parkinson disease. However, at baseline and over time, striatal [18F]‐fluorodopa uptake in mutation carriers without parkinsonism did not significantly differ from controls. ANN NEUROL 2020;87:652–657</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>32030791</pmid><doi>10.1002/ana.25692</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0001-9955-6954</orcidid><orcidid>https://orcid.org/0000-0002-3019-8500</orcidid></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0364-5134 |
ispartof | Annals of neurology, 2020-04, Vol.87 (4), p.652-657 |
issn | 0364-5134 1531-8249 |
language | eng |
recordid | cdi_proquest_miscellaneous_2352632686 |
source | Wiley Online Library |
subjects | Dopamine Emission analysis Gaucher's disease Health risks Movement disorders Mutation Neostriatum Neurodegenerative diseases Parkinson's disease Positron emission Positron emission tomography Risk analysis Risk factors Tomography |
title | Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations |
url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-09-21T22%3A51%3A56IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Longitudinal%20Positron%20Emission%20Tomography%20of%20Dopamine%20Synthesis%20in%20Subjects%20with%20GBA1%20Mutations&rft.jtitle=Annals%20of%20neurology&rft.au=Lopez,%20Grisel&rft.date=2020-04&rft.volume=87&rft.issue=4&rft.spage=652&rft.epage=657&rft.pages=652-657&rft.issn=0364-5134&rft.eissn=1531-8249&rft_id=info:doi/10.1002/ana.25692&rft_dat=%3Cproquest_cross%3E2377321928%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c3532-e76cbe6f176c5c42c69ef90247d8370b038040b26184dfa0449b4353463161d43%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2377321928&rft_id=info:pmid/32030791&rfr_iscdi=true |