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Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings
To investigate the prevalence and clinical feature(s) of Parkinson's disease (PD) patients with expanded (ATXN2 and MJD1) genes of spinocerebellar ataxia type 2 and 3 (SCA2 and SCA3/MJD) in a mainland Chinese population, CAG triplet repeat expansions of (SCA2 and SCA3/MJD) genes (ATXN2 and MJD1...
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| Published in: | Movement disorders 2009-10, Vol.24 (13), p.2007-2011 |
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| Main Authors: | , , , , , , , , , , , , |
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| container_end_page | 2011 |
| container_issue | 13 |
| container_start_page | 2007 |
| container_title | Movement disorders |
| container_volume | 24 |
| creator | Wang, Jun-Ling Xiao, Bin Cui, Xiang-Xiang Guo, Ji-Feng Lei, Li-Fang Song, Xing-Wang Shen, Lu Jiang, Hong Yan, Xin-Xiang Pan, Qian Long, Zhi-Gao Xia, Kun Tang, Bei-Sha |
| description | To investigate the prevalence and clinical feature(s) of Parkinson's disease (PD) patients with expanded (ATXN2 and MJD1) genes of spinocerebellar ataxia type 2 and 3 (SCA2 and SCA3/MJD) in a mainland Chinese population, CAG triplet repeat expansions of (SCA2 and SCA3/MJD) genes (ATXN2 and MJD1) were analyzed in a cohort of 452 PD patients, including 386 sporadic and 66 familial forms. Striatal dopamine transporter was evaluated in two SCA2 and two SCA3/MJD‐positive family members, an idiopathic PD patient and a healthy control using carbon (C11) [11C]‐radiolabeled‐CFT positron emission tomography (PET). We found two patients in one familial PD (FPD) family (1.5%) and two sporadic PD patients (0.5%) with expanded CAG repeats in the ATXN2 locus, four patients in two FPD families (3%) and another three sporadic PD patients (0.8%) in the MJD1 locus. [11C]‐CFT PET in detected members in SCA2 and SCA3/MJD families showed decrements of 11C‐CFT uptake. These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD. © 2009 Movement Disorder Society |
| doi_str_mv | 10.1002/mds.22727 |
| format | article |
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Striatal dopamine transporter was evaluated in two SCA2 and two SCA3/MJD‐positive family members, an idiopathic PD patient and a healthy control using carbon (C11) [11C]‐radiolabeled‐CFT positron emission tomography (PET). We found two patients in one familial PD (FPD) family (1.5%) and two sporadic PD patients (0.5%) with expanded CAG repeats in the ATXN2 locus, four patients in two FPD families (3%) and another three sporadic PD patients (0.8%) in the MJD1 locus. [11C]‐CFT PET in detected members in SCA2 and SCA3/MJD families showed decrements of 11C‐CFT uptake. These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD. © 2009 Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.22727</identifier><identifier>PMID: 19672991</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Aged ; Ataxin-3 ; Ataxins ; Biological and medical sciences ; CAG repeat ; Carbon Isotopes ; China - ethnology ; Cocaine - analogs & derivatives ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Mutational Analysis - methods ; Family Health ; Female ; Humans ; mainland China ; Male ; Medical sciences ; Middle Aged ; Nerve Tissue Proteins - genetics ; Neurology ; Nuclear Proteins - genetics ; Parkinson Disease - diagnostic imaging ; Parkinson Disease - genetics ; Parkinson's disease ; Positron-Emission Tomography - methods ; Repressor Proteins - genetics ; SCA2 ; SCA3/MJD ; Trinucleotide Repeat Expansion - genetics</subject><ispartof>Movement disorders, 2009-10, Vol.24 (13), p.2007-2011</ispartof><rights>Copyright © 2009 Movement Disorder Society</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5247-764cb9eada3f6fd1639a53ba03006194b20ef16477479ea68062249f5c7b91f53</citedby><cites>FETCH-LOGICAL-c5247-764cb9eada3f6fd1639a53ba03006194b20ef16477479ea68062249f5c7b91f53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22109100$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19672991$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, Jun-Ling</creatorcontrib><creatorcontrib>Xiao, Bin</creatorcontrib><creatorcontrib>Cui, Xiang-Xiang</creatorcontrib><creatorcontrib>Guo, Ji-Feng</creatorcontrib><creatorcontrib>Lei, Li-Fang</creatorcontrib><creatorcontrib>Song, Xing-Wang</creatorcontrib><creatorcontrib>Shen, Lu</creatorcontrib><creatorcontrib>Jiang, Hong</creatorcontrib><creatorcontrib>Yan, Xin-Xiang</creatorcontrib><creatorcontrib>Pan, Qian</creatorcontrib><creatorcontrib>Long, Zhi-Gao</creatorcontrib><creatorcontrib>Xia, Kun</creatorcontrib><creatorcontrib>Tang, Bei-Sha</creatorcontrib><title>Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings</title><title>Movement disorders</title><addtitle>Mov. Disord</addtitle><description>To investigate the prevalence and clinical feature(s) of Parkinson's disease (PD) patients with expanded (ATXN2 and MJD1) genes of spinocerebellar ataxia type 2 and 3 (SCA2 and SCA3/MJD) in a mainland Chinese population, CAG triplet repeat expansions of (SCA2 and SCA3/MJD) genes (ATXN2 and MJD1) were analyzed in a cohort of 452 PD patients, including 386 sporadic and 66 familial forms. Striatal dopamine transporter was evaluated in two SCA2 and two SCA3/MJD‐positive family members, an idiopathic PD patient and a healthy control using carbon (C11) [11C]‐radiolabeled‐CFT positron emission tomography (PET). We found two patients in one familial PD (FPD) family (1.5%) and two sporadic PD patients (0.5%) with expanded CAG repeats in the ATXN2 locus, four patients in two FPD families (3%) and another three sporadic PD patients (0.8%) in the MJD1 locus. [11C]‐CFT PET in detected members in SCA2 and SCA3/MJD families showed decrements of 11C‐CFT uptake. These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD. © 2009 Movement Disorder Society</description><subject>Adult</subject><subject>Aged</subject><subject>Ataxin-3</subject><subject>Ataxins</subject><subject>Biological and medical sciences</subject><subject>CAG repeat</subject><subject>Carbon Isotopes</subject><subject>China - ethnology</subject><subject>Cocaine - analogs & derivatives</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Mutational Analysis - methods</subject><subject>Family Health</subject><subject>Female</subject><subject>Humans</subject><subject>mainland China</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurology</subject><subject>Nuclear Proteins - genetics</subject><subject>Parkinson Disease - diagnostic imaging</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Positron-Emission Tomography - methods</subject><subject>Repressor Proteins - genetics</subject><subject>SCA2</subject><subject>SCA3/MJD</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><recordid>eNp9kc9u1DAQxi0EokvhwAsgX6Cq1HT9J7YTbqtsCVQtIBVUbpaT2K0hcRZPVrDvwEPj7S7lBKcZjX7fN2N_CD2n5JQSwuZDB6eMKaYeoBkVnGYFE-ohmpGiEBmnhThATwC-EkKpoPIxOqClVKws6Qz9WgTTb8ADHh2-qhYMm9BtGz6_PF_iaFfWTIB9wB9N_OYDjOEIcOfBGrDb8WB86Lea6tYH8xrXNtjJtye47X3wrelP7hxXI_gpjgHbwQP41EzjMN5Es7rdYOdD58MNPEWPnOnBPtvXQ_T5zdmn6m128aF-Vy0uslawXGVK5m1TWtMZ7qTrqOSlEbwxhBMiaZk3jFhHZa5UrhImCyIZy0snWtWU1Al-iI52vqs4fl9bmHQ6qrV9eocd16AVzyljSZfIV_8lGaVSSa4SeLwD2zgCROv0KvrBxI2mRG9D0ikkfRdSYl_sTdfNYLu_5D6VBLzcAwbSD7poQuvhnmOMkjJ5Jm6-43743m7-vVFfLq_-rM52Cg-T_XmvSNFqqbgS-vp9ravrOj__Ui11zX8DI_m2iw</recordid><startdate>20091015</startdate><enddate>20091015</enddate><creator>Wang, Jun-Ling</creator><creator>Xiao, Bin</creator><creator>Cui, Xiang-Xiang</creator><creator>Guo, Ji-Feng</creator><creator>Lei, Li-Fang</creator><creator>Song, Xing-Wang</creator><creator>Shen, Lu</creator><creator>Jiang, Hong</creator><creator>Yan, Xin-Xiang</creator><creator>Pan, Qian</creator><creator>Long, Zhi-Gao</creator><creator>Xia, Kun</creator><creator>Tang, Bei-Sha</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20091015</creationdate><title>Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings</title><author>Wang, Jun-Ling ; Xiao, Bin ; Cui, Xiang-Xiang ; Guo, Ji-Feng ; Lei, Li-Fang ; Song, Xing-Wang ; Shen, Lu ; Jiang, Hong ; Yan, Xin-Xiang ; Pan, Qian ; Long, Zhi-Gao ; Xia, Kun ; Tang, Bei-Sha</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5247-764cb9eada3f6fd1639a53ba03006194b20ef16477479ea68062249f5c7b91f53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Ataxin-3</topic><topic>Ataxins</topic><topic>Biological and medical sciences</topic><topic>CAG repeat</topic><topic>Carbon Isotopes</topic><topic>China - ethnology</topic><topic>Cocaine - analogs & derivatives</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. 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Prion diseases</topic><topic>DNA Mutational Analysis - methods</topic><topic>Family Health</topic><topic>Female</topic><topic>Humans</topic><topic>mainland China</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Neurology</topic><topic>Nuclear Proteins - genetics</topic><topic>Parkinson Disease - diagnostic imaging</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Positron-Emission Tomography - methods</topic><topic>Repressor Proteins - genetics</topic><topic>SCA2</topic><topic>SCA3/MJD</topic><topic>Trinucleotide Repeat Expansion - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wang, Jun-Ling</creatorcontrib><creatorcontrib>Xiao, Bin</creatorcontrib><creatorcontrib>Cui, Xiang-Xiang</creatorcontrib><creatorcontrib>Guo, Ji-Feng</creatorcontrib><creatorcontrib>Lei, Li-Fang</creatorcontrib><creatorcontrib>Song, Xing-Wang</creatorcontrib><creatorcontrib>Shen, Lu</creatorcontrib><creatorcontrib>Jiang, Hong</creatorcontrib><creatorcontrib>Yan, Xin-Xiang</creatorcontrib><creatorcontrib>Pan, Qian</creatorcontrib><creatorcontrib>Long, Zhi-Gao</creatorcontrib><creatorcontrib>Xia, Kun</creatorcontrib><creatorcontrib>Tang, Bei-Sha</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, Jun-Ling</au><au>Xiao, Bin</au><au>Cui, Xiang-Xiang</au><au>Guo, Ji-Feng</au><au>Lei, Li-Fang</au><au>Song, Xing-Wang</au><au>Shen, Lu</au><au>Jiang, Hong</au><au>Yan, Xin-Xiang</au><au>Pan, Qian</au><au>Long, Zhi-Gao</au><au>Xia, Kun</au><au>Tang, Bei-Sha</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. Disord</addtitle><date>2009-10-15</date><risdate>2009</risdate><volume>24</volume><issue>13</issue><spage>2007</spage><epage>2011</epage><pages>2007-2011</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><abstract>To investigate the prevalence and clinical feature(s) of Parkinson's disease (PD) patients with expanded (ATXN2 and MJD1) genes of spinocerebellar ataxia type 2 and 3 (SCA2 and SCA3/MJD) in a mainland Chinese population, CAG triplet repeat expansions of (SCA2 and SCA3/MJD) genes (ATXN2 and MJD1) were analyzed in a cohort of 452 PD patients, including 386 sporadic and 66 familial forms. Striatal dopamine transporter was evaluated in two SCA2 and two SCA3/MJD‐positive family members, an idiopathic PD patient and a healthy control using carbon (C11) [11C]‐radiolabeled‐CFT positron emission tomography (PET). We found two patients in one familial PD (FPD) family (1.5%) and two sporadic PD patients (0.5%) with expanded CAG repeats in the ATXN2 locus, four patients in two FPD families (3%) and another three sporadic PD patients (0.8%) in the MJD1 locus. [11C]‐CFT PET in detected members in SCA2 and SCA3/MJD families showed decrements of 11C‐CFT uptake. These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD. © 2009 Movement Disorder Society</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>19672991</pmid><doi>10.1002/mds.22727</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Aged Ataxin-3 Ataxins Biological and medical sciences CAG repeat Carbon Isotopes China - ethnology Cocaine - analogs & derivatives Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis - methods Family Health Female Humans mainland China Male Medical sciences Middle Aged Nerve Tissue Proteins - genetics Neurology Nuclear Proteins - genetics Parkinson Disease - diagnostic imaging Parkinson Disease - genetics Parkinson's disease Positron-Emission Tomography - methods Repressor Proteins - genetics SCA2 SCA3/MJD Trinucleotide Repeat Expansion - genetics |
| title | Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings |
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