Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families
Identifieur interne : 001697 ( Istex/Checkpoint ); précédent : 001696; suivant : 001698Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families
Auteurs : Lianna Ishihara [Royaume-Uni] ; Rachel A. Gibson [Royaume-Uni] ; Liling Warren [États-Unis] ; Rim Amouri [Tunisie] ; Kelly Lyons [États-Unis] ; Catherine Wielinski [États-Unis] ; Christine Hunter [États-Unis] ; Jina E. Swartz [Royaume-Uni] ; Ramu Elango [Royaume-Uni] ; P. Anthony Akkari [États-Unis] ; David Leppert [Royaume-Uni] ; Linda Surh [Royaume-Uni] ; Kevin H. Reeves [États-Unis] ; Siwan Thomas [Royaume-Uni] ; Leigh Ragone [États-Unis] ; Nobutaka Hattori [Japon] ; Rajesh Pahwa [États-Unis] ; Joseph Jankovic [États-Unis] ; Martha Nance [États-Unis] ; Alan Freeman [États-Unis] ; Neziha Gouider-Khouja [Tunisie] ; Mounir Kefi [Tunisie] ; Mourad Zouari [Tunisie] ; Samia Ben Sassi [Tunisie] ; Samia Ben Yahmed [Tunisie] ; Ghada El Euch-Fayeche [Tunisie] ; Lefkos Middleton [Royaume-Uni] ; David J. Burn [Royaume-Uni] ; Ray L. Watts [États-Unis] ; Faycal Hentati [Tunisie]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01.
English descriptors
- KwdEn :
Abstract
Mutations in the leucine‐rich repeat kinase‐2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G>A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation. Standardized case report forms were used for clinical and demographic data collection. We investigated the frequency of the most common substitution of LRRK2 (G2019S, 6055G>A) and its impact on epidemiological and phenotypic features. The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions. Individuals with G2019S substitutions had an older age at onset but few other differences compared with families negative for the substitution. Patients with LRRK2 mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous LRRK2 mutations suggested that gene dosage was not correlated with phenotypic differences; however, the estimated penetrance was greater in homozygotes across all age groups. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21180
Affiliations:
- Japon, Royaume-Uni, Tunisie, États-Unis
- Alabama, Angleterre, Angleterre de l'Est, Caroline du Nord, Géorgie (États-Unis), Kansas, Minnesota, Texas
- Cambridge, Houston, Tokyo
- Baylor College of Medicine, Université de Cambridge
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ISTEX:53A067ADB2FD6E36EC54AC61A38B5846E4B4FCE4Le document en format XML
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<author><name sortKey="Ben Yahmed, Samia" sort="Ben Yahmed, Samia" uniqKey="Ben Yahmed S" first="Samia" last="Ben Yahmed">Samia Ben Yahmed</name>
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<author><name sortKey="El Euch Ayeche, Ghada" sort="El Euch Ayeche, Ghada" uniqKey="El Euch Ayeche G" first="Ghada" last="El Euch-Fayeche">Ghada El Euch-Fayeche</name>
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<author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
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<wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas</wicri:regionArea>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
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<author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name>
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<wicri:regionArea>Struthers Parkinson's Center, Golden Valley, Minnesota</wicri:regionArea>
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</placeName>
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<author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name>
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<wicri:regionArea>Department of Neurology, Emory University, Atlanta, Georgia</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Gouider Houja, Neziha" sort="Gouider Houja, Neziha" uniqKey="Gouider Houja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
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<author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name>
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<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
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<author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
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<author><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name>
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<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
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<author><name sortKey="Ben Yahmed, Samia" sort="Ben Yahmed, Samia" uniqKey="Ben Yahmed S" first="Samia" last="Ben Yahmed">Samia Ben Yahmed</name>
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<wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea>
<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="El Euch Ayeche, Ghada" sort="El Euch Ayeche, Ghada" uniqKey="El Euch Ayeche G" first="Ghada" last="El Euch-Fayeche">Ghada El Euch-Fayeche</name>
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<wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea>
<wicri:noRegion>Tunis</wicri:noRegion>
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<author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name>
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<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J." last="Burn">David J. Burn</name>
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<wicri:regionArea>Department of Neurology, Newcastle General Hospital, Newcastle‐upon‐Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle‐upon‐Tyne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray L." last="Watts">Ray L. Watts</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama</wicri:regionArea>
<placeName><region type="state">Alabama</region>
</placeName>
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<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country>
<wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea>
<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<front><div type="abstract" xml:lang="en">Mutations in the leucine‐rich repeat kinase‐2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G>A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation. Standardized case report forms were used for clinical and demographic data collection. We investigated the frequency of the most common substitution of LRRK2 (G2019S, 6055G>A) and its impact on epidemiological and phenotypic features. The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions. Individuals with G2019S substitutions had an older age at onset but few other differences compared with families negative for the substitution. Patients with LRRK2 mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous LRRK2 mutations suggested that gene dosage was not correlated with phenotypic differences; however, the estimated penetrance was greater in homozygotes across all age groups. © 2006 Movement Disorder Society</div>
</front>
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<affiliations><list><country><li>Japon</li>
<li>Royaume-Uni</li>
<li>Tunisie</li>
<li>États-Unis</li>
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<region><li>Alabama</li>
<li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Caroline du Nord</li>
<li>Géorgie (États-Unis)</li>
<li>Kansas</li>
<li>Minnesota</li>
<li>Texas</li>
</region>
<settlement><li>Cambridge</li>
<li>Houston</li>
<li>Tokyo</li>
</settlement>
<orgName><li>Baylor College of Medicine</li>
<li>Université de Cambridge</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ishihara, Lianna" sort="Ishihara, Lianna" uniqKey="Ishihara L" first="Lianna" last="Ishihara">Lianna Ishihara</name>
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<name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J." last="Burn">David J. Burn</name>
<name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name>
<name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name>
<name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name>
<name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name>
<name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name>
<name sortKey="Swartz, Jina E" sort="Swartz, Jina E" uniqKey="Swartz J" first="Jina E." last="Swartz">Jina E. Swartz</name>
<name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name>
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<name sortKey="Akkari, P Anthony" sort="Akkari, P Anthony" uniqKey="Akkari P" first="P. Anthony" last="Akkari">P. Anthony Akkari</name>
<name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name>
<name sortKey="Hunter, Christine" sort="Hunter, Christine" uniqKey="Hunter C" first="Christine" last="Hunter">Christine Hunter</name>
<name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<name sortKey="Lyons, Kelly" sort="Lyons, Kelly" uniqKey="Lyons K" first="Kelly" last="Lyons">Kelly Lyons</name>
<name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name>
<name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
<name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name>
<name sortKey="Reeves, Kevin H" sort="Reeves, Kevin H" uniqKey="Reeves K" first="Kevin H." last="Reeves">Kevin H. Reeves</name>
<name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray L." last="Watts">Ray L. Watts</name>
<name sortKey="Wielinski, Catherine" sort="Wielinski, Catherine" uniqKey="Wielinski C" first="Catherine" last="Wielinski">Catherine Wielinski</name>
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<country name="Tunisie"><noRegion><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
</noRegion>
<name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name>
<name sortKey="Ben Yahmed, Samia" sort="Ben Yahmed, Samia" uniqKey="Ben Yahmed S" first="Samia" last="Ben Yahmed">Samia Ben Yahmed</name>
<name sortKey="El Euch Ayeche, Ghada" sort="El Euch Ayeche, Ghada" uniqKey="El Euch Ayeche G" first="Ghada" last="El Euch-Fayeche">Ghada El Euch-Fayeche</name>
<name sortKey="Gouider Houja, Neziha" sort="Gouider Houja, Neziha" uniqKey="Gouider Houja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
<name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name>
<name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
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<country name="Japon"><noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
</noRegion>
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</affiliations>
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