MovDisordV3, Main, Exploration, bibRecord, 001F63

Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa

Identifieur interne : 001F63 ( Main/Exploration ); précédent : 001F62; suivant : 001F64

Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa

Auteurs : Barbara Jasinska-Myga [États-Unis, Pologne] ; Jennifer Kachergus [États-Unis] ; Carles Vilarino-Güell [États-Unis] ; Christian Wider [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Mounir Kefi [Tunisie] ; Lefkos T. Middleton [Royaume-Uni] ; Lianna Ishihara-Paul [Royaume-Uni] ; Rachel A. Gibson [Royaume-Uni] ; Rim Amouri [Tunisie] ; SAMIA BEN YAHMED [Tunisie] ; SAMIA BEN SASSI [Tunisie] ; Mourad Zouari [Tunisie] ; Ghada El Euch [Tunisie] ; Owen A. Ross [États-Unis] ; Faycal Hentati [Tunisie] ; Matthew J. Farrer [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0474357

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Séquence nucléotide, Séquençage, Homme, Maladie familiale, Afrique du Nord.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Familial disease, Human, Nervous system diseases, North Africa, Nucleotide sequence, Parkinson disease, Sequencing.

Abstract

The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.

Affiliations:

Pologne, Royaume-Uni, Tunisie, États-Unis
Angleterre, Floride, Grand Londres
Londres

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000874
to stream PascalFrancis, to step Curation: 002445
to stream PascalFrancis, to step Checkpoint: 000B37
to stream Main, to step Merge: 002724
to stream Main, to step Curation: 001F63

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa</title>
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<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>La Rabta, Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Samia Ben Yahmed" sort="Samia Ben Yahmed" uniqKey="Samia Ben Yahmed" last="Samia Ben Yahmed">SAMIA BEN YAHMED</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
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<country>Tunisie</country>
<wicri:noRegion>La Rabta, Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Samia Ben Sassi" sort="Samia Ben Sassi" uniqKey="Samia Ben Sassi" last="Samia Ben Sassi">SAMIA BEN SASSI</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>La Rabta, Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>La Rabta, Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="El Euch, Ghada" sort="El Euch, Ghada" uniqKey="El Euch G" first="Ghada" last="El Euch">Ghada El Euch</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>La Rabta, Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>La Rabta, Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Familial disease</term>
<term>Human</term>
<term>Nervous system diseases</term>
<term>North Africa</term>
<term>Nucleotide sequence</term>
<term>Parkinson disease</term>
<term>Sequencing</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Séquence nucléotide</term>
<term>Séquençage</term>
<term>Homme</term>
<term>Maladie familiale</term>
<term>Afrique du Nord</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</div>
</front>
</TEI>
<affiliations><list><country><li>Pologne</li>
<li>Royaume-Uni</li>
<li>Tunisie</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Floride</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
</list>
<tree><country name="États-Unis"><region name="Floride"><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
</region>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name>
<name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name>
</country>
<country name="Pologne"><noRegion><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
</noRegion>
</country>
<country name="Tunisie"><noRegion><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name>
</noRegion>
<name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
<name sortKey="El Euch, Ghada" sort="El Euch, Ghada" uniqKey="El Euch G" first="Ghada" last="El Euch">Ghada El Euch</name>
<name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<name sortKey="Samia Ben Sassi" sort="Samia Ben Sassi" uniqKey="Samia Ben Sassi" last="Samia Ben Sassi">SAMIA BEN SASSI</name>
<name sortKey="Samia Ben Yahmed" sort="Samia Ben Yahmed" uniqKey="Samia Ben Yahmed" last="Samia Ben Yahmed">SAMIA BEN YAHMED</name>
<name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Middleton, Lefkos T" sort="Middleton, Lefkos T" uniqKey="Middleton L" first="Lefkos T." last="Middleton">Lefkos T. Middleton</name>
</region>
<name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name>
<name sortKey="Ishihara Paul, Lianna" sort="Ishihara Paul, Lianna" uniqKey="Ishihara Paul L" first="Lianna" last="Ishihara-Paul">Lianna Ishihara-Paul</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa

Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa

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