Screening for Lrrk2 G2019S and clinical comparison of tunisian and North American caucasian Parkinson's disease families
Identifieur interne : 001474 ( PascalFrancis/Checkpoint ); précédent : 001473; suivant : 001475Screening 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.
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- Pascal (Inist)
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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.
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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Swartz</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></affiliation></author><author><name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></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="2"><inist:fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1><s2>Durham, North Carolina</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></affiliation></author><author><name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></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="2"><inist:fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1><s2>Durham, North Carolina</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></affiliation></author><author><name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1><s2>Durham, North Carolina</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>16 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Department of Neurology, University of Kansas Medical Center</s1><s2>Kansas City, Kansas</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Kansas</region></placeName></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><inist:fA14 i1="07"><s1>Department of Neurology, Baylor College of Medicine</s1><s2>Houston, Texas</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author><author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name><affiliation wicri:level="2"><inist:fA14 i1="06"><s1>Struthers Parkinson's Center</s1><s2>Golden Valley, Minnesota</s2><s3>USA</s3><sZ>6 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name><affiliation wicri:level="2"><inist:fA14 i1="09"><s1>Department of Neurology, Emory University</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></affiliation></author><author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 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="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></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"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></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"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></affiliation></author><author><name sortKey="El Euch Fayeche, Ghada" sort="El Euch Fayeche, Ghada" uniqKey="El Euch Fayeche G" first="Ghada" last="El Euch-Fayeche">Ghada El Euch-Fayeche</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></affiliation></author><author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></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"><inist:fA14 i1="10"><s1>Department of Neurology, Newcastle General Hospital</s1><s2>Newcastle-upon-Tyne</s2><s3>GBR</s3><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="11"><s1>Department of Neurology, University of Alabama at Birmingham</s1><s2>Birmingham, Alabama</s2><s3>USA</s3><sZ>29 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Alabama</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="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0133217</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0133217 INIST</idno><idno type="RBID">Pascal:07-0133217</idno><idno type="wicri:Area/PascalFrancis/Corpus">001835</idno><idno type="wicri:Area/PascalFrancis/Curation">001486</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001474</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="4"><inist:fA14 i1="01"><s1>Department of Public Health and Primary Care, University of Cambridge</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></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"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></affiliation></author><author><name sortKey="Warren, Liling" sort="Warren, Liling" uniqKey="Warren L" first="Liling" last="Warren">Liling Warren</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1><s2>Durham, North Carolina</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><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="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></affiliation></author><author><name sortKey="Lyons, Kelly" sort="Lyons, Kelly" uniqKey="Lyons K" first="Kelly" last="Lyons">Kelly Lyons</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Department of Neurology, University of Kansas Medical Center</s1><s2>Kansas City, Kansas</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Kansas</region></placeName></affiliation></author><author><name sortKey="Wielinski, Catherine" sort="Wielinski, Catherine" uniqKey="Wielinski C" first="Catherine" last="Wielinski">Catherine Wielinski</name><affiliation wicri:level="2"><inist:fA14 i1="06"><s1>Struthers Parkinson's Center</s1><s2>Golden Valley, Minnesota</s2><s3>USA</s3><sZ>6 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Hunter, Christine" sort="Hunter, Christine" uniqKey="Hunter C" first="Christine" last="Hunter">Christine Hunter</name><affiliation wicri:level="2"><inist:fA14 i1="07"><s1>Department of Neurology, Baylor College of Medicine</s1><s2>Houston, Texas</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName></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"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></affiliation></author><author><name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></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="2"><inist:fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1><s2>Durham, North Carolina</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></affiliation></author><author><name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></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="2"><inist:fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1><s2>Durham, North Carolina</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></affiliation></author><author><name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1><s2>Durham, North Carolina</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>16 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Department of Neurology, University of Kansas Medical Center</s1><s2>Kansas City, Kansas</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Kansas</region></placeName></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><inist:fA14 i1="07"><s1>Department of Neurology, Baylor College of Medicine</s1><s2>Houston, Texas</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author><author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name><affiliation wicri:level="2"><inist:fA14 i1="06"><s1>Struthers Parkinson's Center</s1><s2>Golden Valley, Minnesota</s2><s3>USA</s3><sZ>6 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name><affiliation wicri:level="2"><inist:fA14 i1="09"><s1>Department of Neurology, Emory University</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></affiliation></author><author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 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="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></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"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></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"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></affiliation></author><author><name sortKey="El Euch Fayeche, Ghada" sort="El Euch Fayeche, Ghada" uniqKey="El Euch Fayeche G" first="Ghada" last="El Euch-Fayeche">Ghada El Euch-Fayeche</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></affiliation></author><author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Greenford</wicri:noRegion></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"><inist:fA14 i1="10"><s1>Department of Neurology, Newcastle General Hospital</s1><s2>Newcastle-upon-Tyne</s2><s3>GBR</s3><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="11"><s1>Department of Neurology, University of Alabama at Birmingham</s1><s2>Birmingham, Alabama</s2><s3>USA</s3><sZ>29 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Alabama</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="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Tunisie</country><wicri:noRegion>La Rabta, Tunis</wicri:noRegion></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="2007">2007</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>American</term><term>Comparative study</term><term>Medical screening</term><term>Nervous system diseases</term><term>North</term><term>Parkinson disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Parkinson maladie</term><term>Dépistage</term><term>Etude comparative</term><term>Nord</term><term>Américain</term></keywords></textClass></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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>22</s2></fA05><fA06><s2>1</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Screening for Lrrk2 G2019S and clinical comparison of tunisian and North American caucasian Parkinson's disease families</s1></fA08><fA11 i1="01" i2="1"><s1>ISHIHARA (Lianna)</s1></fA11><fA11 i1="02" i2="1"><s1>GIBSON (Rachel A.)</s1></fA11><fA11 i1="03" i2="1"><s1>WARREN (Liling)</s1></fA11><fA11 i1="04" i2="1"><s1>AMOURI (Rim)</s1></fA11><fA11 i1="05" i2="1"><s1>LYONS (Kelly)</s1></fA11><fA11 i1="06" i2="1"><s1>WIELINSKI (Catherine)</s1></fA11><fA11 i1="07" i2="1"><s1>HUNTER (Christine)</s1></fA11><fA11 i1="08" i2="1"><s1>SWARTZ (Jina E.)</s1></fA11><fA11 i1="09" i2="1"><s1>ELANGO (Ramu)</s1></fA11><fA11 i1="10" i2="1"><s1>AKKARI (P. Anthony)</s1></fA11><fA11 i1="11" i2="1"><s1>LEPPERT (David)</s1></fA11><fA11 i1="12" i2="1"><s1>SURH (Linda)</s1></fA11><fA11 i1="13" i2="1"><s1>REEVES (Kevin H.)</s1></fA11><fA11 i1="14" i2="1"><s1>THOMAS (Siwan)</s1></fA11><fA11 i1="15" i2="1"><s1>RAGONE (Leigh)</s1></fA11><fA11 i1="16" i2="1"><s1>HATTORI (Nobutaka)</s1></fA11><fA11 i1="17" i2="1"><s1>PAHWA (Rajesh)</s1></fA11><fA11 i1="18" i2="1"><s1>JANKOVIC (Joseph)</s1></fA11><fA11 i1="19" i2="1"><s1>NANCE (Martha)</s1></fA11><fA11 i1="20" i2="1"><s1>FREEMAN (Alan)</s1></fA11><fA11 i1="21" i2="1"><s1>GOUIDER-KHOUJA (Neziha)</s1></fA11><fA11 i1="22" i2="1"><s1>KEFI (Mounir)</s1></fA11><fA11 i1="23" i2="1"><s1>ZOUARI (Mourad)</s1></fA11><fA11 i1="24" i2="1"><s1>BEN SASSI (Samia)</s1></fA11><fA11 i1="25" i2="1"><s1>BEN YAHMED (Samia)</s1></fA11><fA11 i1="26" i2="1"><s1>EL EUCH-FAYECHE (Ghada)</s1></fA11><fA11 i1="27" i2="1"><s1>MIDDLETON (Lefkos)</s1></fA11><fA11 i1="28" i2="1"><s1>BURN (David J.)</s1></fA11><fA11 i1="29" i2="1"><s1>WATTS (Ray L.)</s1></fA11><fA11 i1="30" i2="1"><s1>HENTATI (Faycal)</s1></fA11><fA14 i1="01"><s1>Department of Public Health and Primary Care, University of Cambridge</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals</s1><s2>Greenford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>27 aut.</sZ></fA14><fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1><s2>Durham, North Carolina</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="04"><s1>Service de Neurologie, Institut National de Neurologie</s1><s2>La Rabta, Tunis</s2><s3>TUN</s3><sZ>4 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>30 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neurology, University of Kansas Medical Center</s1><s2>Kansas City, Kansas</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>17 aut.</sZ></fA14><fA14 i1="06"><s1>Struthers Parkinson's Center</s1><s2>Golden Valley, Minnesota</s2><s3>USA</s3><sZ>6 aut.</sZ><sZ>19 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neurology, Baylor College of Medicine</s1><s2>Houston, Texas</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>18 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>16 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Neurology, Emory University</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>20 aut.</sZ></fA14><fA14 i1="10"><s1>Department of Neurology, Newcastle General Hospital</s1><s2>Newcastle-upon-Tyne</s2><s3>GBR</s3><sZ>28 aut.</sZ></fA14><fA14 i1="11"><s1>Department of Neurology, University of Alabama at Birmingham</s1><s2>Birmingham, Alabama</s2><s3>USA</s3><sZ>29 aut.</sZ></fA14><fA20><s1>55-61</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000145483830080</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>35 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>07-0133217</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC02 i1="03" i2="X"><s0>002B17A03</s0></fC02><fC02 i1="04" i2="X"><s0>002B17F</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Parkinson maladie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Dépistage</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Medical screening</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Descubrimiento</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Etude comparative</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Comparative study</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Estudio comparativo</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Nord</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>North</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Norte</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Américain</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>American</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Americano</s0><s5>12</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fN21><s1>085</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Japon</li><li>Royaume-Uni</li><li>Tunisie</li><li>États-Unis</li></country><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></region><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></country><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Warren, Liling" sort="Warren, Liling" uniqKey="Warren L" first="Liling" last="Warren">Liling Warren</name></region><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></country><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 Fayeche, Ghada" sort="El Euch Fayeche, Ghada" uniqKey="El Euch Fayeche G" first="Ghada" last="El Euch-Fayeche">Ghada El Euch-Fayeche</name><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja 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></country><country name="Japon"><noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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