Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families
Identifieur interne : 001591 ( Istex/Corpus ); précédent : 001590; suivant : 001592Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families
Auteurs : Lianna Ishihara ; Rachel A. Gibson ; Liling Warren ; Rim Amouri ; Kelly Lyons ; Catherine Wielinski ; Christine Hunter ; Jina E. Swartz ; Ramu Elango ; P. Anthony Akkari ; David Leppert ; Linda Surh ; Kevin H. Reeves ; Siwan Thomas ; Leigh Ragone ; Nobutaka Hattori ; Rajesh Pahwa ; Joseph Jankovic ; Martha Nance ; Alan Freeman ; Neziha Gouider-Khouja ; Mounir Kefi ; Mourad Zouari ; Samia Ben Sassi ; Samia Ben Yahmed ; Ghada El Euch-Fayeche ; Lefkos Middleton ; David J. Burn ; Ray L. Watts ; Faycal HentatiSource :
- 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
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DOI: 10.1002/mds.21180
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ISTEX:53A067ADB2FD6E36EC54AC61A38B5846E4B4FCE4Le document en format XML
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<author><name sortKey="Ishihara, Lianna" sort="Ishihara, Lianna" uniqKey="Ishihara L" first="Lianna" last="Ishihara">Lianna Ishihara</name>
<affiliation><mods:affiliation>Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Warren, Liling" sort="Warren, Liling" uniqKey="Warren L" first="Liling" last="Warren">Liling Warren</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lyons, Kelly" sort="Lyons, Kelly" uniqKey="Lyons K" first="Kelly" last="Lyons">Kelly Lyons</name>
<affiliation><mods:affiliation>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Wielinski, Catherine" sort="Wielinski, Catherine" uniqKey="Wielinski C" first="Catherine" last="Wielinski">Catherine Wielinski</name>
<affiliation><mods:affiliation>Struthers Parkinson's Center, Golden Valley, Minnesota, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hunter, Christine" sort="Hunter, Christine" uniqKey="Hunter C" first="Christine" last="Hunter">Christine Hunter</name>
<affiliation><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Swartz, Jina E" sort="Swartz, Jina E" uniqKey="Swartz J" first="Jina E." last="Swartz">Jina E. Swartz</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Akkari, P Anthony" sort="Akkari, P Anthony" uniqKey="Akkari P" first="P. Anthony" last="Akkari">P. Anthony Akkari</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Reeves, Kevin H" sort="Reeves, Kevin H" uniqKey="Reeves K" first="Kevin H." last="Reeves">Kevin H. Reeves</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
<affiliation><mods:affiliation>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name>
<affiliation><mods:affiliation>Struthers Parkinson's Center, Golden Valley, Minnesota, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name>
<affiliation><mods:affiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gouider Houja, Neziha" sort="Gouider Houja, Neziha" uniqKey="Gouider Houja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ben Yahmed, Samia" sort="Ben Yahmed, Samia" uniqKey="Ben Yahmed S" first="Samia" last="Ben Yahmed">Samia Ben Yahmed</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</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>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J." last="Burn">David J. Burn</name>
<affiliation><mods:affiliation>Department of Neurology, Newcastle General Hospital, Newcastle‐upon‐Tyne, United Kingdom</mods:affiliation>
</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><mods:affiliation>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families</title>
<author><name sortKey="Ishihara, Lianna" sort="Ishihara, Lianna" uniqKey="Ishihara L" first="Lianna" last="Ishihara">Lianna Ishihara</name>
<affiliation><mods:affiliation>Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Warren, Liling" sort="Warren, Liling" uniqKey="Warren L" first="Liling" last="Warren">Liling Warren</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lyons, Kelly" sort="Lyons, Kelly" uniqKey="Lyons K" first="Kelly" last="Lyons">Kelly Lyons</name>
<affiliation><mods:affiliation>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Wielinski, Catherine" sort="Wielinski, Catherine" uniqKey="Wielinski C" first="Catherine" last="Wielinski">Catherine Wielinski</name>
<affiliation><mods:affiliation>Struthers Parkinson's Center, Golden Valley, Minnesota, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hunter, Christine" sort="Hunter, Christine" uniqKey="Hunter C" first="Christine" last="Hunter">Christine Hunter</name>
<affiliation><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Swartz, Jina E" sort="Swartz, Jina E" uniqKey="Swartz J" first="Jina E." last="Swartz">Jina E. Swartz</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Akkari, P Anthony" sort="Akkari, P Anthony" uniqKey="Akkari P" first="P. Anthony" last="Akkari">P. Anthony Akkari</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Reeves, Kevin H" sort="Reeves, Kevin H" uniqKey="Reeves K" first="Kevin H." last="Reeves">Kevin H. Reeves</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
<affiliation><mods:affiliation>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name>
<affiliation><mods:affiliation>Struthers Parkinson's Center, Golden Valley, Minnesota, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name>
<affiliation><mods:affiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gouider Houja, Neziha" sort="Gouider Houja, Neziha" uniqKey="Gouider Houja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ben Yahmed, Samia" sort="Ben Yahmed, Samia" uniqKey="Ben Yahmed S" first="Samia" last="Ben Yahmed">Samia Ben Yahmed</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</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>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name>
<affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J." last="Burn">David J. Burn</name>
<affiliation><mods:affiliation>Department of Neurology, Newcastle General Hospital, Newcastle‐upon‐Tyne, United Kingdom</mods:affiliation>
</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><mods:affiliation>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2007-01">2007-01</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">1</biblScope>
<biblScope unit="page" from="55">55</biblScope>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>G2019S</term>
<term>LRRK2</term>
<term>PARK8</term>
<term>Parkinson disease</term>
<term>genetics</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
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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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<author><json:item><name>Lianna Ishihara Mphil</name>
<affiliations><json:string>Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</json:string>
</affiliations>
</json:item>
<json:item><name>Rachel A. Gibson PhD</name>
<affiliations><json:string>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</json:string>
</affiliations>
</json:item>
<json:item><name>Liling Warren PhD</name>
<affiliations><json:string>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</json:string>
</affiliations>
</json:item>
<json:item><name>Rim Amouri PhD</name>
<affiliations><json:string>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</json:string>
</affiliations>
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<p>Mutations in the leucine‐rich repeat kinase‐2 gene (<i>LRRK2</i>
) 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 <i>LRRK2</i>
(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 <i>LRRK2</i>
mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous <i>LRRK2</i>
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</p>
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<!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families</title>
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<titleInfo type="abbreviated" lang="en"><title>G2019S LRRK2 Mutation in Parkinson's</title>
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<namePart type="family">Leppert</namePart>
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<name type="personal"><namePart type="given">Linda</namePart>
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<abstract 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</abstract>
<note type="funding">GlaxoSmithKline Pharmaceuticals</note>
<subject lang="en"><genre>Keywords</genre>
<topic>Parkinson disease</topic>
<topic>genetics</topic>
<topic>LRRK2</topic>
<topic>G2019S</topic>
<topic>PARK8</topic>
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<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
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<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
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<part><date>2007</date>
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<number>22</number>
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<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition>
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