Loading…
Characterization of recessive Parkinson's disease in a large multicenter study
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1587 cases. M...
Saved in:
| Published in: | Annals of neurology 2020-05, Vol.88 (4), p.843-850 |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | |
|---|---|
| cites | |
| container_end_page | 850 |
| container_issue | 4 |
| container_start_page | 843 |
| container_title | Annals of neurology |
| container_volume | 88 |
| creator | Lesage, Suzanne Lunati, Ariane Houot, Marion Romdhan, Sawssan Ben Clot, Fabienne Tesson, Christelle Mangone, Graziella Toullec, Benjamin Le Courtin, Thomas Larcher, Kathy Benmahdjoub, Mustapha Arezki, Mohammed Bouhouche, Ahmed Anheim, Mathieu Roze, Emmanuel Viallet, François Tison, François Broussolle, Emmanuel Emre, Murat Hanagasi, Hasmet Bilgic, Basar Tazir, Meriem Djebara, Mouna Ben Gouider, Riadh Tranchant, Christine Vidailhet, Marie Le Guern, Eric Corti, Olga Mhiri, Chokri Lohmann, Ebba Singleton, Andrew Corvol, Jean-Christophe Brice, Alexis |
| description | Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1587 cases. Mutations were found in 14.1% of patients: 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. This article is protected by copyright. All rights reserved. |
| doi_str_mv | 10.1002/ana.25787 |
| format | article |
| fullrecord | <record><control><sourceid>hal_pubme</sourceid><recordid>TN_cdi_hal_primary_oai_HAL_hal_02981145v1</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>oai_HAL_hal_02981145v1</sourcerecordid><originalsourceid>FETCH-LOGICAL-h576-713c8cbe72a86812faa8628610fe842785b6ccd7cb23ce135ad5bafa4b7ee8ba3</originalsourceid><addsrcrecordid>eNo9kE1Lw0AYhBdRbK0e_AOyN_GQup_ZzbEUtUJRD72Hdzdv7GqalN20UH-9kaqngeGZYRhCrjmbcsbEPbQwFdpYc0LGXEueWaGKUzJmMleZ5lKNyEVKH4yxIufsnIykUEYUeT4mL_M1RPA9xvAFfeha2tU0oseUwh7pG8TP0KauvU20CgkhIQ0tBdpAfEe62TV98NgOcZr6XXW4JGc1NAmvfnVCVo8Pq_kiW74-Pc9ny2ytTZ4ZLr31Do0Am1suahhU2GFbjVYJY7XLva-Md0J65FJDpR3UoJxBtA7khNwda9fQlNsYNhAPZQehXMyW5Y_HRGE5V3rPB_bmyG53boPVP_73gfwGQyhdvQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Characterization of recessive Parkinson's disease in a large multicenter study</title><source>Wiley</source><creator>Lesage, Suzanne ; Lunati, Ariane ; Houot, Marion ; Romdhan, Sawssan Ben ; Clot, Fabienne ; Tesson, Christelle ; Mangone, Graziella ; Toullec, Benjamin Le ; Courtin, Thomas ; Larcher, Kathy ; Benmahdjoub, Mustapha ; Arezki, Mohammed ; Bouhouche, Ahmed ; Anheim, Mathieu ; Roze, Emmanuel ; Viallet, François ; Tison, François ; Broussolle, Emmanuel ; Emre, Murat ; Hanagasi, Hasmet ; Bilgic, Basar ; Tazir, Meriem ; Djebara, Mouna Ben ; Gouider, Riadh ; Tranchant, Christine ; Vidailhet, Marie ; Le Guern, Eric ; Corti, Olga ; Mhiri, Chokri ; Lohmann, Ebba ; Singleton, Andrew ; Corvol, Jean-Christophe ; Brice, Alexis</creator><creatorcontrib>Lesage, Suzanne ; Lunati, Ariane ; Houot, Marion ; Romdhan, Sawssan Ben ; Clot, Fabienne ; Tesson, Christelle ; Mangone, Graziella ; Toullec, Benjamin Le ; Courtin, Thomas ; Larcher, Kathy ; Benmahdjoub, Mustapha ; Arezki, Mohammed ; Bouhouche, Ahmed ; Anheim, Mathieu ; Roze, Emmanuel ; Viallet, François ; Tison, François ; Broussolle, Emmanuel ; Emre, Murat ; Hanagasi, Hasmet ; Bilgic, Basar ; Tazir, Meriem ; Djebara, Mouna Ben ; Gouider, Riadh ; Tranchant, Christine ; Vidailhet, Marie ; Le Guern, Eric ; Corti, Olga ; Mhiri, Chokri ; Lohmann, Ebba ; Singleton, Andrew ; Corvol, Jean-Christophe ; Brice, Alexis ; French Parkinson disease Genetics Study Group (PDG)</creatorcontrib><description>Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1587 cases. Mutations were found in 14.1% of patients: 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. This article is protected by copyright. All rights reserved.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.25787</identifier><identifier>PMID: 32472966</identifier><language>eng</language><publisher>United States: Wiley</publisher><subject>Cognitive science ; Genetics ; Human genetics ; Life Sciences ; Neuroscience ; Populations and Evolution</subject><ispartof>Annals of neurology, 2020-05, Vol.88 (4), p.843-850</ispartof><rights>This article is protected by copyright. All rights reserved.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><orcidid>0000-0003-4158-2601 ; 0000-0002-0941-3990 ; 0000-0002-2409-9143 ; 0000-0002-0275-2498 ; 0000-0002-0410-9519 ; 0000-0002-2847-3067 ; 0000-0001-7325-0199</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32472966$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-02981145$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Lesage, Suzanne</creatorcontrib><creatorcontrib>Lunati, Ariane</creatorcontrib><creatorcontrib>Houot, Marion</creatorcontrib><creatorcontrib>Romdhan, Sawssan Ben</creatorcontrib><creatorcontrib>Clot, Fabienne</creatorcontrib><creatorcontrib>Tesson, Christelle</creatorcontrib><creatorcontrib>Mangone, Graziella</creatorcontrib><creatorcontrib>Toullec, Benjamin Le</creatorcontrib><creatorcontrib>Courtin, Thomas</creatorcontrib><creatorcontrib>Larcher, Kathy</creatorcontrib><creatorcontrib>Benmahdjoub, Mustapha</creatorcontrib><creatorcontrib>Arezki, Mohammed</creatorcontrib><creatorcontrib>Bouhouche, Ahmed</creatorcontrib><creatorcontrib>Anheim, Mathieu</creatorcontrib><creatorcontrib>Roze, Emmanuel</creatorcontrib><creatorcontrib>Viallet, François</creatorcontrib><creatorcontrib>Tison, François</creatorcontrib><creatorcontrib>Broussolle, Emmanuel</creatorcontrib><creatorcontrib>Emre, Murat</creatorcontrib><creatorcontrib>Hanagasi, Hasmet</creatorcontrib><creatorcontrib>Bilgic, Basar</creatorcontrib><creatorcontrib>Tazir, Meriem</creatorcontrib><creatorcontrib>Djebara, Mouna Ben</creatorcontrib><creatorcontrib>Gouider, Riadh</creatorcontrib><creatorcontrib>Tranchant, Christine</creatorcontrib><creatorcontrib>Vidailhet, Marie</creatorcontrib><creatorcontrib>Le Guern, Eric</creatorcontrib><creatorcontrib>Corti, Olga</creatorcontrib><creatorcontrib>Mhiri, Chokri</creatorcontrib><creatorcontrib>Lohmann, Ebba</creatorcontrib><creatorcontrib>Singleton, Andrew</creatorcontrib><creatorcontrib>Corvol, Jean-Christophe</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><creatorcontrib>French Parkinson disease Genetics Study Group (PDG)</creatorcontrib><title>Characterization of recessive Parkinson's disease in a large multicenter study</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1587 cases. Mutations were found in 14.1% of patients: 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. This article is protected by copyright. All rights reserved.</description><subject>Cognitive science</subject><subject>Genetics</subject><subject>Human genetics</subject><subject>Life Sciences</subject><subject>Neuroscience</subject><subject>Populations and Evolution</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNo9kE1Lw0AYhBdRbK0e_AOyN_GQup_ZzbEUtUJRD72Hdzdv7GqalN20UH-9kaqngeGZYRhCrjmbcsbEPbQwFdpYc0LGXEueWaGKUzJmMleZ5lKNyEVKH4yxIufsnIykUEYUeT4mL_M1RPA9xvAFfeha2tU0oseUwh7pG8TP0KauvU20CgkhIQ0tBdpAfEe62TV98NgOcZr6XXW4JGc1NAmvfnVCVo8Pq_kiW74-Pc9ny2ytTZ4ZLr31Do0Am1suahhU2GFbjVYJY7XLva-Md0J65FJDpR3UoJxBtA7khNwda9fQlNsYNhAPZQehXMyW5Y_HRGE5V3rPB_bmyG53boPVP_73gfwGQyhdvQ</recordid><startdate>20200530</startdate><enddate>20200530</enddate><creator>Lesage, Suzanne</creator><creator>Lunati, Ariane</creator><creator>Houot, Marion</creator><creator>Romdhan, Sawssan Ben</creator><creator>Clot, Fabienne</creator><creator>Tesson, Christelle</creator><creator>Mangone, Graziella</creator><creator>Toullec, Benjamin Le</creator><creator>Courtin, Thomas</creator><creator>Larcher, Kathy</creator><creator>Benmahdjoub, Mustapha</creator><creator>Arezki, Mohammed</creator><creator>Bouhouche, Ahmed</creator><creator>Anheim, Mathieu</creator><creator>Roze, Emmanuel</creator><creator>Viallet, François</creator><creator>Tison, François</creator><creator>Broussolle, Emmanuel</creator><creator>Emre, Murat</creator><creator>Hanagasi, Hasmet</creator><creator>Bilgic, Basar</creator><creator>Tazir, Meriem</creator><creator>Djebara, Mouna Ben</creator><creator>Gouider, Riadh</creator><creator>Tranchant, Christine</creator><creator>Vidailhet, Marie</creator><creator>Le Guern, Eric</creator><creator>Corti, Olga</creator><creator>Mhiri, Chokri</creator><creator>Lohmann, Ebba</creator><creator>Singleton, Andrew</creator><creator>Corvol, Jean-Christophe</creator><creator>Brice, Alexis</creator><general>Wiley</general><scope>NPM</scope><scope>1XC</scope><scope>VOOES</scope><orcidid>https://orcid.org/0000-0003-4158-2601</orcidid><orcidid>https://orcid.org/0000-0002-0941-3990</orcidid><orcidid>https://orcid.org/0000-0002-2409-9143</orcidid><orcidid>https://orcid.org/0000-0002-0275-2498</orcidid><orcidid>https://orcid.org/0000-0002-0410-9519</orcidid><orcidid>https://orcid.org/0000-0002-2847-3067</orcidid><orcidid>https://orcid.org/0000-0001-7325-0199</orcidid></search><sort><creationdate>20200530</creationdate><title>Characterization of recessive Parkinson's disease in a large multicenter study</title><author>Lesage, Suzanne ; Lunati, Ariane ; Houot, Marion ; Romdhan, Sawssan Ben ; Clot, Fabienne ; Tesson, Christelle ; Mangone, Graziella ; Toullec, Benjamin Le ; Courtin, Thomas ; Larcher, Kathy ; Benmahdjoub, Mustapha ; Arezki, Mohammed ; Bouhouche, Ahmed ; Anheim, Mathieu ; Roze, Emmanuel ; Viallet, François ; Tison, François ; Broussolle, Emmanuel ; Emre, Murat ; Hanagasi, Hasmet ; Bilgic, Basar ; Tazir, Meriem ; Djebara, Mouna Ben ; Gouider, Riadh ; Tranchant, Christine ; Vidailhet, Marie ; Le Guern, Eric ; Corti, Olga ; Mhiri, Chokri ; Lohmann, Ebba ; Singleton, Andrew ; Corvol, Jean-Christophe ; Brice, Alexis</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-h576-713c8cbe72a86812faa8628610fe842785b6ccd7cb23ce135ad5bafa4b7ee8ba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Cognitive science</topic><topic>Genetics</topic><topic>Human genetics</topic><topic>Life Sciences</topic><topic>Neuroscience</topic><topic>Populations and Evolution</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lesage, Suzanne</creatorcontrib><creatorcontrib>Lunati, Ariane</creatorcontrib><creatorcontrib>Houot, Marion</creatorcontrib><creatorcontrib>Romdhan, Sawssan Ben</creatorcontrib><creatorcontrib>Clot, Fabienne</creatorcontrib><creatorcontrib>Tesson, Christelle</creatorcontrib><creatorcontrib>Mangone, Graziella</creatorcontrib><creatorcontrib>Toullec, Benjamin Le</creatorcontrib><creatorcontrib>Courtin, Thomas</creatorcontrib><creatorcontrib>Larcher, Kathy</creatorcontrib><creatorcontrib>Benmahdjoub, Mustapha</creatorcontrib><creatorcontrib>Arezki, Mohammed</creatorcontrib><creatorcontrib>Bouhouche, Ahmed</creatorcontrib><creatorcontrib>Anheim, Mathieu</creatorcontrib><creatorcontrib>Roze, Emmanuel</creatorcontrib><creatorcontrib>Viallet, François</creatorcontrib><creatorcontrib>Tison, François</creatorcontrib><creatorcontrib>Broussolle, Emmanuel</creatorcontrib><creatorcontrib>Emre, Murat</creatorcontrib><creatorcontrib>Hanagasi, Hasmet</creatorcontrib><creatorcontrib>Bilgic, Basar</creatorcontrib><creatorcontrib>Tazir, Meriem</creatorcontrib><creatorcontrib>Djebara, Mouna Ben</creatorcontrib><creatorcontrib>Gouider, Riadh</creatorcontrib><creatorcontrib>Tranchant, Christine</creatorcontrib><creatorcontrib>Vidailhet, Marie</creatorcontrib><creatorcontrib>Le Guern, Eric</creatorcontrib><creatorcontrib>Corti, Olga</creatorcontrib><creatorcontrib>Mhiri, Chokri</creatorcontrib><creatorcontrib>Lohmann, Ebba</creatorcontrib><creatorcontrib>Singleton, Andrew</creatorcontrib><creatorcontrib>Corvol, Jean-Christophe</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><creatorcontrib>French Parkinson disease Genetics Study Group (PDG)</creatorcontrib><collection>PubMed</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lesage, Suzanne</au><au>Lunati, Ariane</au><au>Houot, Marion</au><au>Romdhan, Sawssan Ben</au><au>Clot, Fabienne</au><au>Tesson, Christelle</au><au>Mangone, Graziella</au><au>Toullec, Benjamin Le</au><au>Courtin, Thomas</au><au>Larcher, Kathy</au><au>Benmahdjoub, Mustapha</au><au>Arezki, Mohammed</au><au>Bouhouche, Ahmed</au><au>Anheim, Mathieu</au><au>Roze, Emmanuel</au><au>Viallet, François</au><au>Tison, François</au><au>Broussolle, Emmanuel</au><au>Emre, Murat</au><au>Hanagasi, Hasmet</au><au>Bilgic, Basar</au><au>Tazir, Meriem</au><au>Djebara, Mouna Ben</au><au>Gouider, Riadh</au><au>Tranchant, Christine</au><au>Vidailhet, Marie</au><au>Le Guern, Eric</au><au>Corti, Olga</au><au>Mhiri, Chokri</au><au>Lohmann, Ebba</au><au>Singleton, Andrew</au><au>Corvol, Jean-Christophe</au><au>Brice, Alexis</au><aucorp>French Parkinson disease Genetics Study Group (PDG)</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization of recessive Parkinson's disease in a large multicenter study</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2020-05-30</date><risdate>2020</risdate><volume>88</volume><issue>4</issue><spage>843</spage><epage>850</epage><pages>843-850</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><abstract>Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1587 cases. Mutations were found in 14.1% of patients: 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. This article is protected by copyright. All rights reserved.</abstract><cop>United States</cop><pub>Wiley</pub><pmid>32472966</pmid><doi>10.1002/ana.25787</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0003-4158-2601</orcidid><orcidid>https://orcid.org/0000-0002-0941-3990</orcidid><orcidid>https://orcid.org/0000-0002-2409-9143</orcidid><orcidid>https://orcid.org/0000-0002-0275-2498</orcidid><orcidid>https://orcid.org/0000-0002-0410-9519</orcidid><orcidid>https://orcid.org/0000-0002-2847-3067</orcidid><orcidid>https://orcid.org/0000-0001-7325-0199</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0364-5134 |
| ispartof | Annals of neurology, 2020-05, Vol.88 (4), p.843-850 |
| issn | 0364-5134 1531-8249 |
| language | eng |
| recordid | cdi_hal_primary_oai_HAL_hal_02981145v1 |
| source | Wiley |
| subjects | Cognitive science Genetics Human genetics Life Sciences Neuroscience Populations and Evolution |
| title | Characterization of recessive Parkinson's disease in a large multicenter study |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-12T01%3A02%3A27IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-hal_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Characterization%20of%20recessive%20Parkinson's%20disease%20in%20a%20large%20multicenter%20study&rft.jtitle=Annals%20of%20neurology&rft.au=Lesage,%20Suzanne&rft.aucorp=French%20Parkinson%20disease%20Genetics%20Study%20Group%20(PDG)&rft.date=2020-05-30&rft.volume=88&rft.issue=4&rft.spage=843&rft.epage=850&rft.pages=843-850&rft.issn=0364-5134&rft.eissn=1531-8249&rft_id=info:doi/10.1002/ana.25787&rft_dat=%3Chal_pubme%3Eoai_HAL_hal_02981145v1%3C/hal_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-h576-713c8cbe72a86812faa8628610fe842785b6ccd7cb23ce135ad5bafa4b7ee8ba3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/32472966&rfr_iscdi=true |