First appraisal of brain pathology owing to A30P mutant alpha‐synuclein
Identifieur interne : 000713 ( Main/Exploration ); précédent : 000712; suivant : 000714First appraisal of brain pathology owing to A30P mutant alpha‐synuclein
Auteurs : Kay Seidel [Allemagne] ; Ludger Schöls [Allemagne] ; Silke Nuber [Allemagne] ; Elisabeth Petrasch-Parwez [Allemagne] ; Kristin Gierga [Allemagne] ; Zbigniew Wszolek [États-Unis] ; Dennis Dickson [États-Unis] ; Wei P. Gai [Australie] ; Antje Bornemann [Allemagne] ; Olaf Riess [Allemagne] ; Abdelhaq Rami [Allemagne] ; Wilfried F. A. Den Dunnen [Pays-Bas] ; Thomas Deller [Allemagne] ; Udo Rüb [Allemagne] ; Rejko Krüger [Allemagne]Source :
- Annals of Neurology [ 0364-5134 ] ; 2010-05.
Abstract
Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha‐synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha‐synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha‐synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha‐synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers. ANN NEUROL 2010;67:684–689
Url:
DOI: 10.1002/ana.21966
Affiliations:
- Allemagne, Australie, Pays-Bas, États-Unis
- Bade-Wurtemberg, District de Tübingen, Floride, Groningue (province)
- Groningue, Tübingen
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A." last="Den Dunnen">Wilfried F. A. Den Dunnen</name><affiliation wicri:level="3"><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region></placeName></affiliation></author><author><name sortKey="Deller, Thomas" sort="Deller, Thomas" uniqKey="Deller T" first="Thomas" last="Deller">Thomas Deller</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Neuroanatomy, Dr Senckenberg Anatomy, Goethe University, Frankfurt am Main</wicri:regionArea><wicri:noRegion>Frankfurt am Main</wicri:noRegion><wicri:noRegion>Frankfurt am Main</wicri:noRegion></affiliation></author><author><name sortKey="Rub, Udo" sort="Rub, Udo" uniqKey="Rub U" first="Udo" last="Rüb">Udo Rüb</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Neuroanatomy, Dr Senckenberg Anatomy, Goethe University, Frankfurt am Main</wicri:regionArea><wicri:noRegion>Frankfurt am Main</wicri:noRegion><wicri:noRegion>Frankfurt am Main</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Udo Rüb, Institute of Clinical Neuroanatomy, Dr. Senckenberg Anatomy, Goethe University, Theodor‐Stern‐Kai 7, D‐60590 Frankfurt/Main, GermanyRejko Krüger, Center of Neurology and Hertie‐Insitute for Clinical Brain Research, University of Tübingen, Hoppe‐Seyler‐Str. 3, 72076 Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Udo Rüb, Institute of Clinical Neuroanatomy, Dr. Senckenberg Anatomy, Goethe University, Theodor‐Stern‐Kai 7, D‐60590 Frankfurt/Main, GermanyRejko Krüger, Center of Neurology and Hertie‐Insitute for Clinical Brain Research, University of Tübingen, Hoppe‐Seyler‐Str. 3, 72076 Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-05">2010-05</date><biblScope unit="volume">67</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="684">684</biblScope><biblScope unit="page" to="689">689</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">7C1C7B5D85249FE37FBA90B434AF6A9FD9432A9B</idno><idno type="DOI">10.1002/ana.21966</idno><idno type="ArticleID">ANA21966</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha‐synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha‐synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha‐synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha‐synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers. ANN NEUROL 2010;67:684–689</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li><li>Floride</li><li>Groningue (province)</li></region><settlement><li>Groningue</li><li>Tübingen</li></settlement></list><tree><country name="Allemagne"><noRegion><name sortKey="Seidel, Kay" sort="Seidel, Kay" uniqKey="Seidel K" first="Kay" last="Seidel">Kay Seidel</name></noRegion><name sortKey="Bornemann, Antje" sort="Bornemann, Antje" uniqKey="Bornemann A" first="Antje" last="Bornemann">Antje Bornemann</name><name sortKey="Deller, Thomas" sort="Deller, Thomas" uniqKey="Deller T" first="Thomas" last="Deller">Thomas Deller</name><name sortKey="Gierga, Kristin" sort="Gierga, Kristin" uniqKey="Gierga K" first="Kristin" last="Gierga">Kristin Gierga</name><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><name sortKey="Nuber, Silke" sort="Nuber, Silke" uniqKey="Nuber S" first="Silke" last="Nuber">Silke Nuber</name><name sortKey="Petrasch Arwez, Elisabeth" sort="Petrasch Arwez, Elisabeth" uniqKey="Petrasch Arwez E" first="Elisabeth" last="Petrasch-Parwez">Elisabeth Petrasch-Parwez</name><name sortKey="Rami, Abdelhaq" sort="Rami, Abdelhaq" uniqKey="Rami A" first="Abdelhaq" last="Rami">Abdelhaq Rami</name><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><name sortKey="Rub, Udo" sort="Rub, Udo" uniqKey="Rub U" first="Udo" last="Rüb">Udo Rüb</name><name sortKey="Rub, Udo" sort="Rub, Udo" uniqKey="Rub U" first="Udo" last="Rüb">Udo Rüb</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Wszolek, Zbigniew" sort="Wszolek, Zbigniew" uniqKey="Wszolek Z" first="Zbigniew" last="Wszolek">Zbigniew Wszolek</name></region><name sortKey="Dickson, Dennis" sort="Dickson, Dennis" uniqKey="Dickson D" first="Dennis" last="Dickson">Dennis Dickson</name></country><country name="Australie"><noRegion><name sortKey="Gai, Wei P" sort="Gai, Wei P" uniqKey="Gai W" first="Wei P." last="Gai">Wei P. Gai</name></noRegion></country><country name="Pays-Bas"><region name="Groningue (province)"><name sortKey="Den Dunnen, Wilfried F A" sort="Den Dunnen, Wilfried F A" uniqKey="Den Dunnen W" first="Wilfried F. A." last="Den Dunnen">Wilfried F. A. Den Dunnen</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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