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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial Parkinsonism: Study of Original Sagamihara PARK8 (I2020T) Kindred With Variable Clinicopathologic Outcomes</title><author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name><affiliation><nlm:aff id="A1"> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Japan</nlm:aff></affiliation></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A. Jon" last="Stoessl">A. Jon Stoessl</name><affiliation><nlm:aff id="A2"> Pacific Parkinson’s Research Centre, University of British Columbia, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Yokoyama, Teruo" sort="Yokoyama, Teruo" uniqKey="Yokoyama T" first="Teruo" last="Yokoyama">Teruo Yokoyama</name><affiliation><nlm:aff id="A3"> Division of Neurology, National Hospital Organization, Hakone National Hospital, Japan</nlm:aff></affiliation></author><author><name sortKey="Kowa, Hisayuki" sort="Kowa, Hisayuki" uniqKey="Kowa H" first="Hisayuki" last="Kowa">Hisayuki Kowa</name><affiliation><nlm:aff id="A1"> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Japan</nlm:aff></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><nlm:aff id="A4"> Department of Neurology, Mayo Clinic, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Yagishita, Saburo" sort="Yagishita, Saburo" uniqKey="Yagishita S" first="Saburo" last="Yagishita">Saburo Yagishita</name><affiliation><nlm:aff id="A1"> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Japan</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18804399</idno><idno type="pmc">2702757</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2702757</idno><idno type="RBID">PMC:2702757</idno><idno type="doi">10.1016/j.parkreldis.2008.07.010</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">000452</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000452</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Familial Parkinsonism: Study of Original Sagamihara PARK8 (I2020T) Kindred With Variable Clinicopathologic Outcomes</title><author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name><affiliation><nlm:aff id="A1"> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Japan</nlm:aff></affiliation></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A. Jon" last="Stoessl">A. Jon Stoessl</name><affiliation><nlm:aff id="A2"> Pacific Parkinson’s Research Centre, University of British Columbia, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Yokoyama, Teruo" sort="Yokoyama, Teruo" uniqKey="Yokoyama T" first="Teruo" last="Yokoyama">Teruo Yokoyama</name><affiliation><nlm:aff id="A3"> Division of Neurology, National Hospital Organization, Hakone National Hospital, Japan</nlm:aff></affiliation></author><author><name sortKey="Kowa, Hisayuki" sort="Kowa, Hisayuki" uniqKey="Kowa H" first="Hisayuki" last="Kowa">Hisayuki Kowa</name><affiliation><nlm:aff id="A1"> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Japan</nlm:aff></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><nlm:aff id="A4"> Department of Neurology, Mayo Clinic, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Yagishita, Saburo" sort="Yagishita, Saburo" uniqKey="Yagishita S" first="Saburo" last="Yagishita">Saburo Yagishita</name><affiliation><nlm:aff id="A1"> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Japan</nlm:aff></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="ISSN">1353-8020</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P2">Since the causative gene linked to PARK8 parkinsonism was identified as <italic>LRRK2</italic>, <italic>LRRK2</italic> gene mutations have been found to occur in about 4% of patients with hereditary Parkinson disease (PD); this percentage is even higher in certain populations. Moreover, no clear clinical differences between PARK8-linked parkinsonism and sporadic PD have been identified. Neuropathologic findings have been diverse in PARK8 parkinsonism, but few of the clinicopathologic examinations have been performed in the same family tree. We aimed to describe PET and neuropathologic findings in members of the same family tree with PARK8 parkinsonism.</p></sec><sec sec-type="methods" id="S2"><title>Methods</title><p id="P3">We conducted PET of 2 subjects and neuropathologically examined 8 subjects in the same family from the Sagamihara district, the original source of PARK8-linked parkinsonism (I2020T mutation).</p></sec><sec id="S3"><title>Results</title><p id="P4">The results of the PET scans were virtually identical to those seen in sporadic PD. The neuropathologic study results showed pure nigral degeneration with no Lewy bodies in 6 cases. One case, however, showed the presence of Lewy bodies and was similar neuropathologically to conventional PD with Lewy bodies. Another case had multiple system atrophy pathology.</p></sec><sec id="S4"><title>Conclusions</title><p id="P5">Our study of PARK8-linked parkinsonism affecting several members of the same pedigree shows that the same gene mutation can induce diverse neuropathologies, even if the clinical picture and PET findings are virtually identical.</p></sec></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9513583</journal-id><journal-id journal-id-type="pubmed-jr-id">21522</journal-id><journal-id journal-id-type="nlm-ta">Parkinsonism Relat Disord</journal-id><journal-title>Parkinsonism & related disorders</journal-title><issn pub-type="ppub">1353-8020</issn></journal-meta><article-meta><article-id pub-id-type="pmid">18804399</article-id><article-id pub-id-type="pmc">2702757</article-id><article-id pub-id-type="doi">10.1016/j.parkreldis.2008.07.010</article-id><article-id pub-id-type="manuscript">NIHMS115127</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Familial Parkinsonism: Study of Original Sagamihara PARK8 (I2020T) Kindred With Variable Clinicopathologic Outcomes</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Hasegawa</surname><given-names>Kazuko</given-names></name><degrees>MD, PhD</degrees><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Stoessl</surname><given-names>A. Jon</given-names></name><degrees>MD, FRCPC</degrees><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Yokoyama</surname><given-names>Teruo</given-names></name><degrees>MD, PhD</degrees><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Kowa</surname><given-names>Hisayuki</given-names></name><degrees>MD, PhD</degrees><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><degrees>MD</degrees><xref rid="A4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Yagishita</surname><given-names>Saburo</given-names></name><degrees>MD, PhD</degrees><xref rid="A1" ref-type="aff">1</xref></contrib></contrib-group><aff id="A1"><label>1</label> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Japan</aff><aff id="A2"><label>2</label> Pacific Parkinson’s Research Centre, University of British Columbia, Vancouver, BC, Canada</aff><aff id="A3"><label>3</label> Division of Neurology, National Hospital Organization, Hakone National Hospital, Japan</aff><aff id="A4"><label>4</label> Department of Neurology, Mayo Clinic, Jacksonville, Florida</aff><pub-date pub-type="nihms-submitted"><day>4</day><month>5</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>18</day><month>9</month><year>2008</year></pub-date><pub-date pub-type="ppub"><month>5</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>5</month><year>2010</year></pub-date><volume>15</volume><issue>4</issue><fpage>300</fpage><lpage>306</lpage><abstract><sec id="S1"><title>Background</title><p id="P2">Since the causative gene linked to PARK8 parkinsonism was identified as <italic>LRRK2</italic>, <italic>LRRK2</italic> gene mutations have been found to occur in about 4% of patients with hereditary Parkinson disease (PD); this percentage is even higher in certain populations. Moreover, no clear clinical differences between PARK8-linked parkinsonism and sporadic PD have been identified. Neuropathologic findings have been diverse in PARK8 parkinsonism, but few of the clinicopathologic examinations have been performed in the same family tree. We aimed to describe PET and neuropathologic findings in members of the same family tree with PARK8 parkinsonism.</p></sec><sec sec-type="methods" id="S2"><title>Methods</title><p id="P3">We conducted PET of 2 subjects and neuropathologically examined 8 subjects in the same family from the Sagamihara district, the original source of PARK8-linked parkinsonism (I2020T mutation).</p></sec><sec id="S3"><title>Results</title><p id="P4">The results of the PET scans were virtually identical to those seen in sporadic PD. The neuropathologic study results showed pure nigral degeneration with no Lewy bodies in 6 cases. One case, however, showed the presence of Lewy bodies and was similar neuropathologically to conventional PD with Lewy bodies. Another case had multiple system atrophy pathology.</p></sec><sec id="S4"><title>Conclusions</title><p id="P5">Our study of PARK8-linked parkinsonism affecting several members of the same pedigree shows that the same gene mutation can induce diverse neuropathologies, even if the clinical picture and PET findings are virtually identical.</p></sec></abstract><kwd-group><kwd>nigral degeneration</kwd><kwd>PARK8</kwd><kwd>PET</kwd></kwd-group><contract-num rid="NS1">P50 NS040256-109003</contract-num><contract-sponsor id="NS1">National Institute of Neurological Disorders and Stroke : NINDS</contract-sponsor></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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