JankovicV1, PascalFrancis, Corpus, bibRecord, 000063

Screening for Lrrk2 G2019S and clinical comparison of tunisian and North American caucasian Parkinson's disease families

Identifieur interne : 000063 ( PascalFrancis/Corpus ); précédent : 000062; suivant : 000064

Screening for Lrrk2 G2019S and clinical comparison of tunisian and North American caucasian Parkinson's disease families

Auteurs : Lianna Ishihara ; Rachel Gibson ; Liling Warren ; Rim Amouri ; Kelly Lyons ; Catherine Wielinski ; Christine Hunter ; Jina Swartz ; Ramu Elango ; P Akkari ; David Leppert ; Linda Surh ; Kevin Reeves ; Siwan Thomas ; Leigh Ragone ; Nobutaka Hattori ; Rajesh Pahwa ; Joseph Jankovic ; Martha Nance ; Alan Freeman ; Neziha Gouider ; Mounir Kefi ; Mourad Zouari ; Samia Ben ; Samia Ben ; Ghada El ; Lefkos Middleton ; David Burn ; Ray Watts ; Faycal Hentati

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0133217

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Dépistage, Etude comparative, Nord, Américain.

English descriptors

KwdEn :
- American, Comparative study, Medical screening, Nervous system diseases, North, Parkinson disease.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`02`	`1`		`@1 GIBSON (Rachel A.)`
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A11	`18`	`1`		`@1 JANKOVIC (Joseph)`
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A14	`01`			`@1 Department of Public Health and Primary Care, University of Cambridge @2 Cambridge @3 GBR @Z 1 aut.`
A14	`02`			`@1 Research and Development, GlaxoSmithKline Pharmaceuticals @2 Greenford @3 GBR @Z 2 aut. @Z 8 aut. @Z 9 aut. @Z 11 aut. @Z 12 aut. @Z 14 aut. @Z 27 aut.`
A14	`03`			`@1 Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park @2 Durham, North Carolina @3 USA @Z 3 aut. @Z 10 aut. @Z 13 aut. @Z 15 aut.`
A14	`04`			`@1 Service de Neurologie, Institut National de Neurologie @2 La Rabta, Tunis @3 TUN @Z 4 aut. @Z 21 aut. @Z 22 aut. @Z 23 aut. @Z 24 aut. @Z 25 aut. @Z 26 aut. @Z 30 aut.`
A14	`05`			`@1 Department of Neurology, University of Kansas Medical Center @2 Kansas City, Kansas @3 USA @Z 5 aut. @Z 17 aut.`
A14	`06`			`@1 Struthers Parkinson's Center @2 Golden Valley, Minnesota @3 USA @Z 6 aut. @Z 19 aut.`
A14	`07`			`@1 Department of Neurology, Baylor College of Medicine @2 Houston, Texas @3 USA @Z 7 aut. @Z 18 aut.`
A14	`08`			`@1 Department of Neurology, Juntendo University School of Medicine @2 Tokyo @3 JPN @Z 16 aut.`
A14	`09`			`@1 Department of Neurology, Emory University @2 Atlanta, Georgia @3 USA @Z 20 aut.`
A14	`10`			`@1 Department of Neurology, Newcastle General Hospital @2 Newcastle-upon-Tyne @3 GBR @Z 28 aut.`
A14	`11`			`@1 Department of Neurology, University of Alabama at Birmingham @2 Birmingham, Alabama @3 USA @Z 29 aut.`
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C01	`01`		`ENG`	@0 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.
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C03	`05`	`X`	`ENG`	`@0 North @5 11`
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C03	`06`	`X`	`ENG`	`@0 American @5 12`
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C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
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C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
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C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
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C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
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Format Inist (serveur)

NO :	PASCAL 07-0133217 INIST
ET :	Screening for Lrrk2 G2019S and clinical comparison of tunisian and North American caucasian Parkinson's disease families
AU :	ISHIHARA (Lianna); GIBSON (Rachel A.); WARREN (Liling); AMOURI (Rim); LYONS (Kelly); WIELINSKI (Catherine); HUNTER (Christine); SWARTZ (Jina E.); ELANGO (Ramu); AKKARI (P. Anthony); LEPPERT (David); SURH (Linda); REEVES (Kevin H.); THOMAS (Siwan); RAGONE (Leigh); HATTORI (Nobutaka); PAHWA (Rajesh); JANKOVIC (Joseph); NANCE (Martha); FREEMAN (Alan); GOUIDER-KHOUJA (Neziha); KEFI (Mounir); ZOUARI (Mourad); BEN SASSI (Samia); BEN YAHMED (Samia); EL EUCH-FAYECHE (Ghada); MIDDLETON (Lefkos); BURN (David J.); WATTS (Ray L.); HENTATI (Faycal)
AF :	Department of Public Health and Primary Care, University of Cambridge/Cambridge/Royaume-Uni (1 aut.); Research and Development, GlaxoSmithKline Pharmaceuticals/Greenford/Royaume-Uni (2 aut., 8 aut., 9 aut., 11 aut., 12 aut., 14 aut., 27 aut.); Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park/Durham, North Carolina/Etats-Unis (3 aut., 10 aut., 13 aut., 15 aut.); Service de Neurologie, Institut National de Neurologie/La Rabta, Tunis/Tunisie (4 aut., 21 aut., 22 aut., 23 aut., 24 aut., 25 aut., 26 aut., 30 aut.); Department of Neurology, University of Kansas Medical Center/Kansas City, Kansas/Etats-Unis (5 aut., 17 aut.); Struthers Parkinson's Center/Golden Valley, Minnesota/Etats-Unis (6 aut., 19 aut.); Department of Neurology, Baylor College of Medicine/Houston, Texas/Etats-Unis (7 aut., 18 aut.); Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (16 aut.); Department of Neurology, Emory University/Atlanta, Georgia/Etats-Unis (20 aut.); Department of Neurology, Newcastle General Hospital/Newcastle-upon-Tyne/Royaume-Uni (28 aut.); Department of Neurology, University of Alabama at Birmingham/Birmingham, Alabama/Etats-Unis (29 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 1; Pp. 55-61; Bibl. 35 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G; 002B17A03; 002B17F
FD :	Système nerveux pathologie; Parkinson maladie; Dépistage; Etude comparative; Nord; Américain
FG :	Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie
ED :	Nervous system diseases; Parkinson disease; Medical screening; Comparative study; North; American
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Sistema nervioso patología; Parkinson enfermedad; Descubrimiento; Estudio comparativo; Norte; Americano
LO :	INIST-20953.354000145483830080
ID :	07-0133217

Links to Exploration step

Pascal:07-0133217

Le document en format XML

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<author><name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name>
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<author><name sortKey="Akkari, P Anthony" sort="Akkari, P Anthony" uniqKey="Akkari P" first="P" last="Akkari">P Akkari</name>
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<author><name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name>
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<author><name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name>
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<author><name sortKey="Reeves, Kevin H" sort="Reeves, Kevin H" uniqKey="Reeves K" first="Kevin" last="Reeves">Kevin Reeves</name>
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<author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name>
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<author><name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name>
<affiliation><inist:fA14 i1="03"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park</s1>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurology, University of Kansas Medical Center</s1>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Neurology, Baylor College of Medicine</s1>
<s2>Houston, Texas</s2>
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<author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name>
<affiliation><inist:fA14 i1="09"><s1>Department of Neurology, Emory University</s1>
<s2>Atlanta, Georgia</s2>
<s3>USA</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider">Neziha Gouider</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name>
<affiliation><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>
</affiliation>
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<author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben">Samia Ben</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Ben Yahmed, Samia" sort="Ben Yahmed, Samia" uniqKey="Ben Yahmed S" first="Samia" last="Ben">Samia Ben</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="El Euch Fayeche, Ghada" sort="El Euch Fayeche, Ghada" uniqKey="El Euch Fayeche G" first="Ghada" last="El">Ghada El</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David" last="Burn">David Burn</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray" last="Watts">Ray Watts</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation><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>
</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">000063</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><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>
</affiliation>
</author>
<author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel" last="Gibson">Rachel Gibson</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Warren, Liling" sort="Warren, Liling" uniqKey="Warren L" first="Liling" last="Warren">Liling Warren</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Lyons, Kelly" sort="Lyons, Kelly" uniqKey="Lyons K" first="Kelly" last="Lyons">Kelly Lyons</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Wielinski, Catherine" sort="Wielinski, Catherine" uniqKey="Wielinski C" first="Catherine" last="Wielinski">Catherine Wielinski</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Hunter, Christine" sort="Hunter, Christine" uniqKey="Hunter C" first="Christine" last="Hunter">Christine Hunter</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Swartz, Jina E" sort="Swartz, Jina E" uniqKey="Swartz J" first="Jina" last="Swartz">Jina Swartz</name>
<affiliation><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>
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</affiliation>
</author>
<author><name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name>
<affiliation><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>
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</affiliation>
</author>
<author><name sortKey="Akkari, P Anthony" sort="Akkari, P Anthony" uniqKey="Akkari P" first="P" last="Akkari">P Akkari</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Reeves, Kevin H" sort="Reeves, Kevin H" uniqKey="Reeves K" first="Kevin" last="Reeves">Kevin Reeves</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name>
<affiliation><inist:fA14 i1="09"><s1>Department of Neurology, Emory University</s1>
<s2>Atlanta, Georgia</s2>
<s3>USA</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider">Neziha Gouider</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben">Samia Ben</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Ben Yahmed, Samia" sort="Ben Yahmed, Samia" uniqKey="Ben Yahmed S" first="Samia" last="Ben">Samia Ben</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="El Euch Fayeche, Ghada" sort="El Euch Fayeche, Ghada" uniqKey="El Euch Fayeche G" first="Ghada" last="El">Ghada El</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David" last="Burn">David Burn</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray" last="Watts">Ray Watts</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation><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>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
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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.</div>
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<fA11 i1="01" i2="1"><s1>ISHIHARA (Lianna)</s1>
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<fA11 i1="02" i2="1"><s1>GIBSON (Rachel A.)</s1>
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<fA11 i1="03" i2="1"><s1>WARREN (Liling)</s1>
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<fA11 i1="04" i2="1"><s1>AMOURI (Rim)</s1>
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<fA11 i1="24" i2="1"><s1>BEN SASSI (Samia)</s1>
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<fA11 i1="26" i2="1"><s1>EL EUCH-FAYECHE (Ghada)</s1>
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<fA11 i1="27" i2="1"><s1>MIDDLETON (Lefkos)</s1>
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<fA11 i1="28" i2="1"><s1>BURN (David J.)</s1>
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<fA11 i1="29" i2="1"><s1>WATTS (Ray L.)</s1>
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<fA11 i1="30" i2="1"><s1>HENTATI (Faycal)</s1>
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<fA14 i1="01"><s1>Department of Public Health and Primary Care, University of Cambridge</s1>
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<sZ>25 aut.</sZ>
<sZ>26 aut.</sZ>
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<sZ>17 aut.</sZ>
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<sZ>19 aut.</sZ>
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<fA14 i1="07"><s1>Department of Neurology, Baylor College of Medicine</s1>
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<sZ>7 aut.</sZ>
<sZ>18 aut.</sZ>
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<fA14 i1="08"><s1>Department of Neurology, Juntendo University School of Medicine</s1>
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<sZ>16 aut.</sZ>
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<fA14 i1="09"><s1>Department of Neurology, Emory University</s1>
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<sZ>20 aut.</sZ>
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<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>
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<ET>Screening for Lrrk2 G2019S and clinical comparison of tunisian and North American caucasian Parkinson's disease families</ET>
<AU>ISHIHARA (Lianna); GIBSON (Rachel A.); WARREN (Liling); AMOURI (Rim); LYONS (Kelly); WIELINSKI (Catherine); HUNTER (Christine); SWARTZ (Jina E.); ELANGO (Ramu); AKKARI (P. Anthony); LEPPERT (David); SURH (Linda); REEVES (Kevin H.); THOMAS (Siwan); RAGONE (Leigh); HATTORI (Nobutaka); PAHWA (Rajesh); JANKOVIC (Joseph); NANCE (Martha); FREEMAN (Alan); GOUIDER-KHOUJA (Neziha); KEFI (Mounir); ZOUARI (Mourad); BEN SASSI (Samia); BEN YAHMED (Samia); EL EUCH-FAYECHE (Ghada); MIDDLETON (Lefkos); BURN (David J.); WATTS (Ray L.); HENTATI (Faycal)</AU>
<AF>Department of Public Health and Primary Care, University of Cambridge/Cambridge/Royaume-Uni (1 aut.); Research and Development, GlaxoSmithKline Pharmaceuticals/Greenford/Royaume-Uni (2 aut., 8 aut., 9 aut., 11 aut., 12 aut., 14 aut., 27 aut.); Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park/Durham, North Carolina/Etats-Unis (3 aut., 10 aut., 13 aut., 15 aut.); Service de Neurologie, Institut National de Neurologie/La Rabta, Tunis/Tunisie (4 aut., 21 aut., 22 aut., 23 aut., 24 aut., 25 aut., 26 aut., 30 aut.); Department of Neurology, University of Kansas Medical Center/Kansas City, Kansas/Etats-Unis (5 aut., 17 aut.); Struthers Parkinson's Center/Golden Valley, Minnesota/Etats-Unis (6 aut., 19 aut.); Department of Neurology, Baylor College of Medicine/Houston, Texas/Etats-Unis (7 aut., 18 aut.); Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (16 aut.); Department of Neurology, Emory University/Atlanta, Georgia/Etats-Unis (20 aut.); Department of Neurology, Newcastle General Hospital/Newcastle-upon-Tyne/Royaume-Uni (28 aut.); Department of Neurology, University of Alabama at Birmingham/Birmingham, Alabama/Etats-Unis (29 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 1; Pp. 55-61; Bibl. 35 ref.</SO>
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<EA>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.</EA>
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Screening for Lrrk2 G2019S and clinical comparison of tunisian and North American caucasian Parkinson's disease families

Screening for Lrrk2 G2019S and clinical comparison of tunisian and North American caucasian Parkinson's disease families

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