Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families
Identifieur interne : 001591 ( Istex/Curation ); précédent : 001590; suivant : 001592Screening 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.
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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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wicri:level="1"><mods:affiliation>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas</wicri:regionArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name><affiliation wicri:level="1"><mods:affiliation>Struthers Parkinson's Center, Golden Valley, Minnesota, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Struthers Parkinson's Center, Golden Valley, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Emory University, Atlanta, Georgia</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name><affiliation wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Neurology, Newcastle General Hospital, Newcastle‐upon‐Tyne, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Newcastle General Hospital, Newcastle‐upon‐Tyne</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama</wicri:regionArea></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:53A067ADB2FD6E36EC54AC61A38B5846E4B4FCE4</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21180</idno><idno type="url">https://api.istex.fr/document/53A067ADB2FD6E36EC54AC61A38B5846E4B4FCE4/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001591</idno><idno type="wicri:Area/Istex/Curation">001591</idno></publicationStmt><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 wicri:level="1"><mods:affiliation>Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Public Health and Primary Care, University of Cambridge, Cambridge</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford</wicri:regionArea></affiliation></author><author><name sortKey="Warren, Liling" sort="Warren, Liling" uniqKey="Warren L" first="Liling" last="Warren">Liling Warren</name><affiliation wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Lyons, Kelly" sort="Lyons, Kelly" uniqKey="Lyons K" first="Kelly" last="Lyons">Kelly Lyons</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas</wicri:regionArea></affiliation></author><author><name sortKey="Wielinski, Catherine" sort="Wielinski, Catherine" uniqKey="Wielinski C" first="Catherine" last="Wielinski">Catherine Wielinski</name><affiliation wicri:level="1"><mods:affiliation>Struthers Parkinson's Center, Golden Valley, Minnesota, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Struthers Parkinson's Center, Golden Valley, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Hunter, Christine" sort="Hunter, Christine" uniqKey="Hunter C" first="Christine" last="Hunter">Christine Hunter</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford</wicri:regionArea></affiliation></author><author><name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name><affiliation wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name><affiliation wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford</wicri:regionArea></affiliation></author><author><name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name><affiliation wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name><affiliation wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford</wicri:regionArea></affiliation></author><author><name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name><affiliation wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas</wicri:regionArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name><affiliation wicri:level="1"><mods:affiliation>Struthers Parkinson's Center, Golden Valley, Minnesota, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Struthers Parkinson's Center, Golden Valley, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Emory University, Atlanta, Georgia</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name><affiliation wicri:level="1"><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Research and Development, GlaxoSmithKline Pharmaceuticals, Greenford</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Neurology, Newcastle General Hospital, Newcastle‐upon‐Tyne, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Newcastle General Hospital, Newcastle‐upon‐Tyne</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama</wicri:regionArea></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis</wicri:regionArea></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><biblScope unit="page" to="61">61</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">53A067ADB2FD6E36EC54AC61A38B5846E4B4FCE4</idno><idno type="DOI">10.1002/mds.21180</idno><idno type="ArticleID">MDS21180</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><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></langUsage></profileDesc></teiHeader><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></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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