Familial Parkinsonism: Study of Original Sagamihara PARK8 (I2020T) Kindred With Variable Clinicopathologic Outcomes
Identifieur interne : 000959 ( Ncbi/Merge ); précédent : 000958; suivant : 000960Familial Parkinsonism: Study of Original Sagamihara PARK8 (I2020T) Kindred With Variable Clinicopathologic Outcomes
Auteurs : Kazuko Hasegawa [Japon] ; A. Jon Stoessl [Canada] ; Teruo Yokoyama [Japon] ; Hisayuki Kowa [Japon] ; Zbigniew K. Wszolek [États-Unis] ; Saburo Yagishita [Japon]Source :
- Parkinsonism & related disorders [ 1353-8020 ] ; 2008.
Abstract
Since the causative gene linked to PARK8 parkinsonism was identified as
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).
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.
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.
Url:
DOI: 10.1016/j.parkreldis.2008.07.010
PubMed: 18804399
PubMed Central: 2702757
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<author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
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<author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name>
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<country xml:lang="fr">Japon</country>
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<country xml:lang="fr">Canada</country>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea> From the Division of Neurology, National Hospital Organization, Sagamihara National Hospital</wicri:regionArea>
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<author><name sortKey="Yagishita, Saburo" sort="Yagishita, Saburo" uniqKey="Yagishita S" first="Saburo" last="Yagishita">Saburo Yagishita</name>
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<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>
<affiliations><list><country><li>Canada</li>
<li>Japon</li>
<li>États-Unis</li>
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<region><li>Floride</li>
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<name sortKey="Kowa, Hisayuki" sort="Kowa, Hisayuki" uniqKey="Kowa H" first="Hisayuki" last="Kowa">Hisayuki Kowa</name>
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<name sortKey="Yokoyama, Teruo" sort="Yokoyama, Teruo" uniqKey="Yokoyama T" first="Teruo" last="Yokoyama">Teruo Yokoyama</name>
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<country name="Canada"><noRegion><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A. Jon" last="Stoessl">A. Jon Stoessl</name>
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