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Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients
Data on the frequency of α‐synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g....
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| Published in: | Movement disorders 2005-09, Vol.20 (9), p.1191-1194 |
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| container_end_page | 1194 |
| container_issue | 9 |
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| container_title | Movement disorders |
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| creator | Berg, Daniela Niwar, Marc Maass, Sylvia Zimprich, Alexander Möller, J. Carsten Wuellner, Ullrich Schmitz-Hübsch, Tanja Klein, Christine Tan, Eng-King Schöls, Ludger Marsh, Laura Dawson, Ted M. Janetzky, Bernd Müller, Thomas Woitalla, Dirk Kostic, Vladimir Pramstaller, Peter P. Oertel, Wolfgang H. Bauer, Peter Krueger, Rejko Gasser, Thomas Riess, Olaf |
| description | Data on the frequency of α‐synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α‐synuclein gene are rare and suggest that other factors contribute to α‐synuclein aggregation in the majority of PD patients. © 2005 Movement Disorder Society |
| doi_str_mv | 10.1002/mds.20504 |
| format | article |
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Carsten ; Wuellner, Ullrich ; Schmitz-Hübsch, Tanja ; Klein, Christine ; Tan, Eng-King ; Schöls, Ludger ; Marsh, Laura ; Dawson, Ted M. ; Janetzky, Bernd ; Müller, Thomas ; Woitalla, Dirk ; Kostic, Vladimir ; Pramstaller, Peter P. ; Oertel, Wolfgang H. ; Bauer, Peter ; Krueger, Rejko ; Gasser, Thomas ; Riess, Olaf</creator><creatorcontrib>Berg, Daniela ; Niwar, Marc ; Maass, Sylvia ; Zimprich, Alexander ; Möller, J. Carsten ; Wuellner, Ullrich ; Schmitz-Hübsch, Tanja ; Klein, Christine ; Tan, Eng-King ; Schöls, Ludger ; Marsh, Laura ; Dawson, Ted M. ; Janetzky, Bernd ; Müller, Thomas ; Woitalla, Dirk ; Kostic, Vladimir ; Pramstaller, Peter P. ; Oertel, Wolfgang H. ; Bauer, Peter ; Krueger, Rejko ; Gasser, Thomas ; Riess, Olaf</creatorcontrib><description>Data on the frequency of α‐synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α‐synuclein gene are rare and suggest that other factors contribute to α‐synuclein aggregation in the majority of PD patients. © 2005 Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.20504</identifier><identifier>PMID: 15895422</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Aged ; alpha-synuclein ; alpha-Synuclein - genetics ; Biological and medical sciences ; Chromatography, High Pressure Liquid ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Primers - genetics ; Exons ; Female ; Genetic Testing ; Humans ; Male ; Medical sciences ; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis ; mutational screening ; Neurology ; Parkinson Disease - genetics ; Parkinson's disease ; Point Mutation - genetics ; silent mutation</subject><ispartof>Movement disorders, 2005-09, Vol.20 (9), p.1191-1194</ispartof><rights>Copyright © 2005 Movement Disorder Society</rights><rights>2005 INIST-CNRS</rights><rights>(c) 2005 Movement Disorder Society.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4224-4bd508d3a01dfff77a9fd0367063867b16fd8314291b4fd70fca5a1a8228e2803</citedby><cites>FETCH-LOGICAL-c4224-4bd508d3a01dfff77a9fd0367063867b16fd8314291b4fd70fca5a1a8228e2803</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17224486$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15895422$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Berg, Daniela</creatorcontrib><creatorcontrib>Niwar, Marc</creatorcontrib><creatorcontrib>Maass, Sylvia</creatorcontrib><creatorcontrib>Zimprich, Alexander</creatorcontrib><creatorcontrib>Möller, J. Carsten</creatorcontrib><creatorcontrib>Wuellner, Ullrich</creatorcontrib><creatorcontrib>Schmitz-Hübsch, Tanja</creatorcontrib><creatorcontrib>Klein, Christine</creatorcontrib><creatorcontrib>Tan, Eng-King</creatorcontrib><creatorcontrib>Schöls, Ludger</creatorcontrib><creatorcontrib>Marsh, Laura</creatorcontrib><creatorcontrib>Dawson, Ted M.</creatorcontrib><creatorcontrib>Janetzky, Bernd</creatorcontrib><creatorcontrib>Müller, Thomas</creatorcontrib><creatorcontrib>Woitalla, Dirk</creatorcontrib><creatorcontrib>Kostic, Vladimir</creatorcontrib><creatorcontrib>Pramstaller, Peter P.</creatorcontrib><creatorcontrib>Oertel, Wolfgang H.</creatorcontrib><creatorcontrib>Bauer, Peter</creatorcontrib><creatorcontrib>Krueger, Rejko</creatorcontrib><creatorcontrib>Gasser, Thomas</creatorcontrib><creatorcontrib>Riess, Olaf</creatorcontrib><title>Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients</title><title>Movement disorders</title><addtitle>Mov. Disord</addtitle><description>Data on the frequency of α‐synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α‐synuclein gene are rare and suggest that other factors contribute to α‐synuclein aggregation in the majority of PD patients. © 2005 Movement Disorder Society</description><subject>Aged</subject><subject>alpha-synuclein</subject><subject>alpha-Synuclein - genetics</subject><subject>Biological and medical sciences</subject><subject>Chromatography, High Pressure Liquid</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Primers - genetics</subject><subject>Exons</subject><subject>Female</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</subject><subject>mutational screening</subject><subject>Neurology</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Point Mutation - genetics</subject><subject>silent mutation</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><recordid>eNqFkU1vEzEQhi0EoqFw4A8gXwAhsa3HXq8dblWgaavwIT7E0XLWNjXsehfPRpB_X9OE9oQ4jTR6Zt7RM4Q8BnYEjPHj3uERZ5LVd8gMpIBKc6nukhnTWlYCtDwgDxC_MwYgoblPDkDquaw5nxF30o2XtsJt2rSdj4na5OgHm3_EhEN6jtRF9Bb9K3rej11s7RSHhDTkoafTpafYZu9TTN_oEGg_ZF-6NlF4OWeMjoX2acKH5F6wHfpH-3pIvpy--bw4q1bvl-eLk1XVllvqql47ybQTloELIShl58Ex0SjWCN2oNTTBaQE1n8O6Dk6x0FppwWrOteeaiUPybLd3zMPPjcfJ9BFb33U2-WGDptGSSy7gvyAHqJXUTQFf7MA2D4jZBzPm2Nu8NcDMH_emuDfX7gv7ZL90s-69uyX3sgvwdA9YbG0Xsk1txFtOFQn1dejxjvsVO7_9d6J5-_rT3-hqNxFx8r9vJsobTaOEkubru6Upr7-4-LhYmpW4AhXYqIc</recordid><startdate>200509</startdate><enddate>200509</enddate><creator>Berg, Daniela</creator><creator>Niwar, Marc</creator><creator>Maass, Sylvia</creator><creator>Zimprich, Alexander</creator><creator>Möller, J. 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| subjects | Aged alpha-synuclein alpha-Synuclein - genetics Biological and medical sciences Chromatography, High Pressure Liquid Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Primers - genetics Exons Female Genetic Testing Humans Male Medical sciences Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis mutational screening Neurology Parkinson Disease - genetics Parkinson's disease Point Mutation - genetics silent mutation |
| title | Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients |
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