ParkinsonFranceV1, PascalFrancis, Corpus, bibRecord, 000B29

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

Identifieur interne : 000B29 ( PascalFrancis/Corpus ); précédent : 000B28; suivant : 000B30

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

Auteurs : Lianna Ishihara ; Liling Warren ; Rachel Gibson ; Rim Amouri ; Suzanne Lesage ; Alexandra Durr ; Meriem Tazir ; Zbigniew K. Wszolek ; Ryan J. Uitti ; William C. Nichols ; Alida Griffith ; Nobutaka Hattori ; David Leppert ; Ray Watts ; Cyrus P. Zabetian ; Tatiana M. Foroud ; Matthew J. Farrer ; Alexis Brice ; Lefkos Middleton ; Faycal Hentati

Source :

Archives of neurology : (Chicago) [ 0003-9942 ] ; 2006.

RBID : Pascal:06-0451705

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Homme, Homozygotie, Leucine, Kinase, Mutation.

English descriptors

KwdEn :
- Homozygosity, Human, Kinase, Leucine, Mutation, Nervous system diseases, Parkinson disease.

Abstract

Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations`
A11	`01`	`1`		`@1 ISHIHARA (Lianna)`
A11	`02`	`1`		`@1 WARREN (Liling)`
A11	`03`	`1`		`@1 GIBSON (Rachel)`
A11	`04`	`1`		`@1 AMOURI (Rim)`
A11	`05`	`1`		`@1 LESAGE (Suzanne)`
A11	`06`	`1`		`@1 DURR (Alexandra)`
A11	`07`	`1`		`@1 TAZIR (Meriem)`
A11	`08`	`1`		`@1 WSZOLEK (Zbigniew K.)`
A11	`09`	`1`		`@1 UITTI (Ryan J.)`
A11	`10`	`1`		`@1 NICHOLS (William C.)`
A11	`11`	`1`		`@1 GRIFFITH (Alida)`
A11	`12`	`1`		`@1 HATTORI (Nobutaka)`
A11	`13`	`1`		`@1 LEPPERT (David)`
A11	`14`	`1`		`@1 WATTS (Ray)`
A11	`15`	`1`		`@1 ZABETIAN (Cyrus P.)`
A11	`16`	`1`		`@1 FOROUD (Tatiana M.)`
A11	`17`	`1`		`@1 FARRER (Matthew J.)`
A11	`18`	`1`		`@1 BRICE (Alexis)`
A11	`19`	`1`		`@1 MIDDLETON (Lefkos)`
A11	`20`	`1`		`@1 HENTATI (Faycal)`
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A14	`04`			`@1 Neurology and Experimental Therapeutics, Institut National de la Santé et de la Récherche Médicale U679, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP) @3 FRA @Z 5 aut. @Z 6 aut. @Z 18 aut.`
A14	`05`			`@1 Département de Neurologie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP) @3 FRA @Z 5 aut. @Z 6 aut. @Z 18 aut.`
A14	`06`			`@1 Faculté de Médecine, Université Pierre et Marie Curie @3 FRA @Z 5 aut. @Z 6 aut. @Z 18 aut.`
A14	`07`			`@1 Département de Génétique, Cytogénétique et Embryolo gie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP) @3 FRA @Z 6 aut. @Z 18 aut.`
A14	`08`			`@1 Fédération de Neurologie, Centre Hospitalier Universitaire (CHU) Pitié- Salpêtrière, AP-HP @2 Paris @3 FRA @Z 6 aut. @Z 18 aut.`
A14	`09`			`@1 Service de Neurologie, CHU Mustapha @2 Algiers @3 DZA @Z 7 aut.`
A14	`10`			`@1 Department of Neurology, Mayo Clinic Jacksonville @2 Jacksonville, Fla @3 USA @Z 8 aut. @Z 9 aut.`
A14	`11`			`@1 Division of Human Genetics, Cincinnati Children's Hospital Medical Center @2 Cincinnati, Ohio @3 USA @Z 10 aut.`
A14	`12`			`@1 Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center @2 Kirkland, Wash @3 USA @Z 11 aut.`
A14	`13`			`@1 Department of Neurology, Jun tendo University School of Medicine @2 Tokyo @3 JPN @Z 12 aut.`
A14	`14`			`@1 Department of Neurology, University of Alabama at Birmingham @3 USA @Z 14 aut.`
A14	`15`			`@1 Department of Neurology, University of Washington School of Medicine @3 USA @Z 15 aut.`
A14	`16`			`@1 Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System @2 Seattle @3 USA @Z 15 aut.`
A14	`17`			`@1 Department of Medical and Molecular Genetics, Indiana University Medical Center @2 Indianapolis @3 USA @Z 16 aut.`
A14	`18`			`@1 Department of Neuroscience, Mayo Clinic Jacksonville @2 Jacksonville, Fla @3 USA @Z 17 aut.`
A20				`@1 1250-1254`
A21				`@1 2006`
A23	`01`			`@0 ENG`
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C01	`01`		`ENG`	@0 Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.
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C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Parkinson maladie @5 02`
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C03	`03`	`X`	`ENG`	`@0 Human @5 09`
C03	`03`	`X`	`SPA`	`@0 Hombre @5 09`
C03	`04`	`X`	`FRE`	`@0 Homozygotie @5 10`
C03	`04`	`X`	`ENG`	`@0 Homozygosity @5 10`
C03	`04`	`X`	`SPA`	`@0 Homocigosis @5 10`
C03	`05`	`X`	`FRE`	`@0 Leucine @2 NK @2 FR @5 11`
C03	`05`	`X`	`ENG`	`@0 Leucine @2 NK @2 FR @5 11`
C03	`05`	`X`	`SPA`	`@0 Leucina @2 NK @2 FR @5 11`
C03	`06`	`X`	`FRE`	`@0 Kinase @2 FE @5 12`
C03	`06`	`X`	`ENG`	`@0 Kinase @2 FE @5 12`
C03	`06`	`X`	`SPA`	`@0 Kinase @2 FE @5 12`
C03	`07`	`X`	`FRE`	`@0 Mutation @5 13`
C03	`07`	`X`	`ENG`	`@0 Mutation @5 13`
C03	`07`	`X`	`SPA`	`@0 Mutación @5 13`
C07	`01`	`X`	`FRE`	`@0 Transferases @2 FE`
C07	`01`	`X`	`ENG`	`@0 Transferases @2 FE`
C07	`01`	`X`	`SPA`	`@0 Transferases @2 FE`
C07	`02`	`X`	`FRE`	`@0 Enzyme @2 FE`
C07	`02`	`X`	`ENG`	`@0 Enzyme @2 FE`
C07	`02`	`X`	`SPA`	`@0 Enzima @2 FE`
C07	`03`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
C07	`03`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`03`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
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C07	`04`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
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Format Inist (serveur)

NO :	PASCAL 06-0451705 INIST
ET :	Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
AU :	ISHIHARA (Lianna); WARREN (Liling); GIBSON (Rachel); AMOURI (Rim); LESAGE (Suzanne); DURR (Alexandra); TAZIR (Meriem); WSZOLEK (Zbigniew K.); UITTI (Ryan J.); NICHOLS (William C.); GRIFFITH (Alida); HATTORI (Nobutaka); LEPPERT (David); WATTS (Ray); ZABETIAN (Cyrus P.); FOROUD (Tatiana M.); FARRER (Matthew J.); BRICE (Alexis); MIDDLETON (Lefkos); HENTATI (Faycal)
AF :	Department of Public Health and Primary Care, University of Cambridge/Cambridge, England/Royaume-Uni (1 aut.); Research and Development, GlaxoSmithKline/Greenford, England/Royaume-Uni (2 aut., 3 aut., 13 aut., 19 aut.); Service de Neurolo gie, Institut National de Neurologie/Tunis/Tunisie (4 aut., 20 aut.); Neurology and Experimental Therapeutics, Institut National de la Santé et de la Récherche Médicale U679, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)/France (5 aut., 6 aut., 18 aut.); Département de Neurologie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)/France (5 aut., 6 aut., 18 aut.); Faculté de Médecine, Université Pierre et Marie Curie/France (5 aut., 6 aut., 18 aut.); Département de Génétique, Cytogénétique et Embryolo gie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)/France (6 aut., 18 aut.); Fédération de Neurologie, Centre Hospitalier Universitaire (CHU) Pitié- Salpêtrière, AP-HP/Paris/France (6 aut., 18 aut.); Service de Neurologie, CHU Mustapha/Algiers/Algérie (7 aut.); Department of Neurology, Mayo Clinic Jacksonville/Jacksonville, Fla/Etats-Unis (8 aut., 9 aut.); Division of Human Genetics, Cincinnati Children's Hospital Medical Center/Cincinnati, Ohio/Etats-Unis (10 aut.); Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center/Kirkland, Wash/Etats-Unis (11 aut.); Department of Neurology, Jun tendo University School of Medicine/Tokyo/Japon (12 aut.); Department of Neurology, University of Alabama at Birmingham/Etats-Unis (14 aut.); Department of Neurology, University of Washington School of Medicine/Etats-Unis (15 aut.); Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System/Seattle/Etats-Unis (15 aut.); Department of Medical and Molecular Genetics, Indiana University Medical Center/Indianapolis/Etats-Unis (16 aut.); Department of Neuroscience, Mayo Clinic Jacksonville/Jacksonville, Fla/Etats-Unis (17 aut.)
DT :	Publication en série; Niveau analytique
SO :	Archives of neurology : (Chicago); ISSN 0003-9942; Coden ARNEAS; Etats-Unis; Da. 2006; Vol. 63; No. 9; Pp. 1250-1254; Bibl. 31 ref.
LA :	Anglais
EA :	Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.
CC :	002B17; 002B17G; 002B17F
FD :	Système nerveux pathologie; Parkinson maladie; Homme; Homozygotie; Leucine; Kinase; Mutation
FG :	Transferases; Enzyme; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie
ED :	Nervous system diseases; Parkinson disease; Human; Homozygosity; Leucine; Kinase; Mutation
EG :	Transferases; Enzyme; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Sistema nervioso patología; Parkinson enfermedad; Hombre; Homocigosis; Leucina; Kinase; Mutación
LO :	INIST-2048B.354000157190580050
ID :	06-0451705

Links to Exploration step

Pascal:06-0451705

Le document en format XML

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<author><name sortKey="Ishihara, Lianna" sort="Ishihara, Lianna" uniqKey="Ishihara L" first="Lianna" last="Ishihara">Lianna Ishihara</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Public Health and Primary Care, University of Cambridge</s1>
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<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
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<affiliation><inist:fA14 i1="06"><s1>Faculté de Médecine, Université Pierre et Marie Curie</s1>
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<sZ>6 aut.</sZ>
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<affiliation><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryolo gie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
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<affiliation><inist:fA14 i1="08"><s1>Fédération de Neurologie, Centre Hospitalier Universitaire (CHU) Pitié- Salpêtrière, AP-HP</s1>
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<author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name>
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<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation><inist:fA14 i1="10"><s1>Department of Neurology, Mayo Clinic Jacksonville</s1>
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<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
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<author><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name>
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<s2>Kirkland, Wash</s2>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation><inist:fA14 i1="13"><s1>Department of Neurology, Jun tendo University School of Medicine</s1>
<s2>Tokyo</s2>
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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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<s2>Greenford, England</s2>
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<author><name sortKey="Watts, Ray" sort="Watts, Ray" uniqKey="Watts R" first="Ray" last="Watts">Ray Watts</name>
<affiliation><inist:fA14 i1="14"><s1>Department of Neurology, University of Alabama at Birmingham</s1>
<s3>USA</s3>
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</author>
<author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name>
<affiliation><inist:fA14 i1="15"><s1>Department of Neurology, University of Washington School of Medicine</s1>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="16"><s1>Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1>
<s2>Seattle</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Foroud, Tatiana M" sort="Foroud, Tatiana M" uniqKey="Foroud T" first="Tatiana M." last="Foroud">Tatiana M. Foroud</name>
<affiliation><inist:fA14 i1="17"><s1>Department of Medical and Molecular Genetics, Indiana University Medical Center</s1>
<s2>Indianapolis</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation><inist:fA14 i1="18"><s1>Department of Neuroscience, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, Fla</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><inist:fA14 i1="04"><s1>Neurology and Experimental Therapeutics, Institut National de la Santé et de la Récherche Médicale U679, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Département de Neurologie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Faculté de Médecine, Université Pierre et Marie Curie</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryolo gie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Fédération de Neurologie, Centre Hospitalier Universitaire (CHU) Pitié- Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>18 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</s1>
<s2>Greenford, England</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>19 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="03"><s1>Service de Neurolo gie, Institut National de Neurologie</s1>
<s2>Tunis</s2>
<s3>TUN</s3>
<sZ>4 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0451705</idno>
<date when="2006">2006</date>
<idno type="stanalyst">PASCAL 06-0451705 INIST</idno>
<idno type="RBID">Pascal:06-0451705</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000B29</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations</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, England</s2>
<s3>GBR</s3>
<sZ>1 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="02"><s1>Research and Development, GlaxoSmithKline</s1>
<s2>Greenford, England</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gibson, Rachel" sort="Gibson, Rachel" uniqKey="Gibson R" first="Rachel" last="Gibson">Rachel Gibson</name>
<affiliation><inist:fA14 i1="02"><s1>Research and Development, GlaxoSmithKline</s1>
<s2>Greenford, England</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>19 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="03"><s1>Service de Neurolo gie, Institut National de Neurologie</s1>
<s2>Tunis</s2>
<s3>TUN</s3>
<sZ>4 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation><inist:fA14 i1="04"><s1>Neurology and Experimental Therapeutics, Institut National de la Santé et de la Récherche Médicale U679, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Département de Neurologie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Faculté de Médecine, Université Pierre et Marie Curie</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<affiliation><inist:fA14 i1="04"><s1>Neurology and Experimental Therapeutics, Institut National de la Santé et de la Récherche Médicale U679, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Département de Neurologie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Faculté de Médecine, Université Pierre et Marie Curie</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryolo gie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Fédération de Neurologie, Centre Hospitalier Universitaire (CHU) Pitié- Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name>
<affiliation><inist:fA14 i1="09"><s1>Service de Neurologie, CHU Mustapha</s1>
<s2>Algiers</s2>
<s3>DZA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation><inist:fA14 i1="10"><s1>Department of Neurology, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, Fla</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<affiliation><inist:fA14 i1="10"><s1>Department of Neurology, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, Fla</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<affiliation><inist:fA14 i1="11"><s1>Division of Human Genetics, Cincinnati Children's Hospital Medical Center</s1>
<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name>
<affiliation><inist:fA14 i1="12"><s1>Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center</s1>
<s2>Kirkland, Wash</s2>
<s3>USA</s3>
<sZ>11 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="13"><s1>Department of Neurology, Jun tendo University School of Medicine</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>12 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</s1>
<s2>Greenford, England</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Watts, Ray" sort="Watts, Ray" uniqKey="Watts R" first="Ray" last="Watts">Ray Watts</name>
<affiliation><inist:fA14 i1="14"><s1>Department of Neurology, University of Alabama at Birmingham</s1>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name>
<affiliation><inist:fA14 i1="15"><s1>Department of Neurology, University of Washington School of Medicine</s1>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="16"><s1>Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1>
<s2>Seattle</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Foroud, Tatiana M" sort="Foroud, Tatiana M" uniqKey="Foroud T" first="Tatiana M." last="Foroud">Tatiana M. Foroud</name>
<affiliation><inist:fA14 i1="17"><s1>Department of Medical and Molecular Genetics, Indiana University Medical Center</s1>
<s2>Indianapolis</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation><inist:fA14 i1="18"><s1>Department of Neuroscience, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, Fla</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><inist:fA14 i1="04"><s1>Neurology and Experimental Therapeutics, Institut National de la Santé et de la Récherche Médicale U679, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Département de Neurologie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Faculté de Médecine, Université Pierre et Marie Curie</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryolo gie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Fédération de Neurologie, Centre Hospitalier Universitaire (CHU) Pitié- Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>18 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</s1>
<s2>Greenford, England</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>19 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="03"><s1>Service de Neurolo gie, Institut National de Neurologie</s1>
<s2>Tunis</s2>
<s3>TUN</s3>
<sZ>4 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Homozygosity</term>
<term>Human</term>
<term>Kinase</term>
<term>Leucine</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Homme</term>
<term>Homozygotie</term>
<term>Leucine</term>
<term>Kinase</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.</div>
</front>
</TEI>
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<fA08 i1="01" i2="1" l="ENG"><s1>Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>ISHIHARA (Lianna)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>WARREN (Liling)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>GIBSON (Rachel)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>AMOURI (Rim)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>LESAGE (Suzanne)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>DURR (Alexandra)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>TAZIR (Meriem)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>WSZOLEK (Zbigniew K.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>UITTI (Ryan J.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>NICHOLS (William C.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>GRIFFITH (Alida)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>HATTORI (Nobutaka)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>LEPPERT (David)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>WATTS (Ray)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>ZABETIAN (Cyrus P.)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>FOROUD (Tatiana M.)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>FARRER (Matthew J.)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>BRICE (Alexis)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>MIDDLETON (Lefkos)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>HENTATI (Faycal)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Public Health and Primary Care, University of Cambridge</s1>
<s2>Cambridge, England</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Research and Development, GlaxoSmithKline</s1>
<s2>Greenford, England</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Service de Neurolo gie, Institut National de Neurologie</s1>
<s2>Tunis</s2>
<s3>TUN</s3>
<sZ>4 aut.</sZ>
<sZ>20 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Neurology and Experimental Therapeutics, Institut National de la Santé et de la Récherche Médicale U679, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Département de Neurologie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Faculté de Médecine, Université Pierre et Marie Curie</s1>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryolo gie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)</s1>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Fédération de Neurologie, Centre Hospitalier Universitaire (CHU) Pitié- Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Service de Neurologie, CHU Mustapha</s1>
<s2>Algiers</s2>
<s3>DZA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>Department of Neurology, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, Fla</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="11"><s1>Division of Human Genetics, Cincinnati Children's Hospital Medical Center</s1>
<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="12"><s1>Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center</s1>
<s2>Kirkland, Wash</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="13"><s1>Department of Neurology, Jun tendo University School of Medicine</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="14"><s1>Department of Neurology, University of Alabama at Birmingham</s1>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="15"><s1>Department of Neurology, University of Washington School of Medicine</s1>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</fA14>
<fA14 i1="16"><s1>Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1>
<s2>Seattle</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</fA14>
<fA14 i1="17"><s1>Department of Medical and Molecular Genetics, Indiana University Medical Center</s1>
<s2>Indianapolis</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</fA14>
<fA14 i1="18"><s1>Department of Neuroscience, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, Fla</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</fA14>
<fA20><s1>1250-1254</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
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<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>31 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0451705</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Archives of neurology : (Chicago)</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
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</fC02>
<fC02 i1="03" 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>Homme</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Human</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Hombre</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Homozygotie</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Homozygosity</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Homocigosis</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Leucine</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Leucine</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Leucina</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Kinase</s0>
<s2>FE</s2>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Kinase</s0>
<s2>FE</s2>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Kinase</s0>
<s2>FE</s2>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Mutation</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Mutation</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Mutación</s0>
<s5>13</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>296</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
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<server><NO>PASCAL 06-0451705 INIST</NO>
<ET>Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations</ET>
<AU>ISHIHARA (Lianna); WARREN (Liling); GIBSON (Rachel); AMOURI (Rim); LESAGE (Suzanne); DURR (Alexandra); TAZIR (Meriem); WSZOLEK (Zbigniew K.); UITTI (Ryan J.); NICHOLS (William C.); GRIFFITH (Alida); HATTORI (Nobutaka); LEPPERT (David); WATTS (Ray); ZABETIAN (Cyrus P.); FOROUD (Tatiana M.); FARRER (Matthew J.); BRICE (Alexis); MIDDLETON (Lefkos); HENTATI (Faycal)</AU>
<AF>Department of Public Health and Primary Care, University of Cambridge/Cambridge, England/Royaume-Uni (1 aut.); Research and Development, GlaxoSmithKline/Greenford, England/Royaume-Uni (2 aut., 3 aut., 13 aut., 19 aut.); Service de Neurolo gie, Institut National de Neurologie/Tunis/Tunisie (4 aut., 20 aut.); Neurology and Experimental Therapeutics, Institut National de la Santé et de la Récherche Médicale U679, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)/France (5 aut., 6 aut., 18 aut.); Département de Neurologie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)/France (5 aut., 6 aut., 18 aut.); Faculté de Médecine, Université Pierre et Marie Curie/France (5 aut., 6 aut., 18 aut.); Département de Génétique, Cytogénétique et Embryolo gie, Groupe Hôpital de la Pitié- Salpêtrière, Assitance Publique-Hôpitaux de Paris (AP- HP)/France (6 aut., 18 aut.); Fédération de Neurologie, Centre Hospitalier Universitaire (CHU) Pitié- Salpêtrière, AP-HP/Paris/France (6 aut., 18 aut.); Service de Neurologie, CHU Mustapha/Algiers/Algérie (7 aut.); Department of Neurology, Mayo Clinic Jacksonville/Jacksonville, Fla/Etats-Unis (8 aut., 9 aut.); Division of Human Genetics, Cincinnati Children's Hospital Medical Center/Cincinnati, Ohio/Etats-Unis (10 aut.); Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center/Kirkland, Wash/Etats-Unis (11 aut.); Department of Neurology, Jun tendo University School of Medicine/Tokyo/Japon (12 aut.); Department of Neurology, University of Alabama at Birmingham/Etats-Unis (14 aut.); Department of Neurology, University of Washington School of Medicine/Etats-Unis (15 aut.); Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System/Seattle/Etats-Unis (15 aut.); Department of Medical and Molecular Genetics, Indiana University Medical Center/Indianapolis/Etats-Unis (16 aut.); Department of Neuroscience, Mayo Clinic Jacksonville/Jacksonville, Fla/Etats-Unis (17 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Archives of neurology : (Chicago); ISSN 0003-9942; Coden ARNEAS; Etats-Unis; Da. 2006; Vol. 63; No. 9; Pp. 1250-1254; Bibl. 31 ref.</SO>
<LA>Anglais</LA>
<EA>Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.</EA>
<CC>002B17; 002B17G; 002B17F</CC>
<FD>Système nerveux pathologie; Parkinson maladie; Homme; Homozygotie; Leucine; Kinase; Mutation</FD>
<FG>Transferases; Enzyme; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Parkinson disease; Human; Homozygosity; Leucine; Kinase; Mutation</ED>
<EG>Transferases; Enzyme; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Parkinson enfermedad; Hombre; Homocigosis; Leucina; Kinase; Mutación</SD>
<LO>INIST-2048B.354000157190580050</LO>
<ID>06-0451705</ID>
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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

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