Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1
Identifieur interne : 000A00 ( PascalFrancis/Checkpoint ); précédent : 000999; suivant : 000A01Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1
Auteurs : Anne-Louise Leutenegger [France] ; Mustafa A. M. Salih [Arabie saoudite] ; Pablo Ibanez [France] ; Maowia M. Mukhtar [Soudan] ; Suzanne Lesage [France] ; All Arabi [Soudan] ; Ebba Lohmann [France] ; Alexandra Dürr [France] ; Ammar E. M. Ahmed [Soudan] ; Alexis Brice [France]Source :
- Archives of neurology : (Chicago) [ 0003-9942 ] ; 2006.
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Abstract
Background: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at lp36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.
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last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion><wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion><wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryologie</s1><s3>FRA</s3><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Cytogénétique et Embryologie</wicri:noRegion><wicri:noRegion>Département de Génétique, Cytogénétique et Embryologie</wicri:noRegion></affiliation></author><author><name sortKey="Ahmed, Ammar E M" sort="Ahmed, Ammar E M" uniqKey="Ahmed A" first="Ammar E. M." last="Ahmed">Ammar E. M. Ahmed</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Physiology, Faculty of Medicine, University of Khartoum</s1><s2>Khartoum</s2><s3>SDN</s3><sZ>9 aut.</sZ></inist:fA14><country>Soudan</country><wicri:noRegion>Khartoum</wicri:noRegion></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion><wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion><wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryologie</s1><s3>FRA</s3><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Cytogénétique et Embryologie</wicri:noRegion><wicri:noRegion>Département de Génétique, Cytogénétique et Embryologie</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Fédération de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0451706</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 06-0451706 INIST</idno><idno type="RBID">Pascal:06-0451706</idno><idno type="wicri:Area/PascalFrancis/Corpus">000B28</idno><idno type="wicri:Area/PascalFrancis/Curation">000906</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000A00</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000A00</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1</title><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion><wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion><wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion></affiliation></author><author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University</s1><s2>Riyadh</s2><s3>SAU</s3><sZ>2 aut.</sZ></inist:fA14><country>Arabie saoudite</country><wicri:noRegion>Riyadh</wicri:noRegion></affiliation></author><author><name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion><wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion><wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion></affiliation></author><author><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M." last="Mukhtar">Maowia M. Mukhtar</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Institute of Endemic Diseases, Faculty of Medicine, University of Khartoum</s1><s2>Khartoum</s2><s3>SDN</s3><sZ>4 aut.</sZ></inist:fA14><country>Soudan</country><wicri:noRegion>Khartoum</wicri:noRegion></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion><wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion><wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion></affiliation></author><author><name sortKey="Arabi, All" sort="Arabi, All" uniqKey="Arabi A" first="All" last="Arabi">All Arabi</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Pediatrics, Faculty of Medicine, University of Khartoum</s1><s2>Khartoum</s2><s3>SDN</s3><sZ>6 aut.</sZ></inist:fA14><country>Soudan</country><wicri:noRegion>Khartoum</wicri:noRegion></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion><wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion><wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion><wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion><wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryologie</s1><s3>FRA</s3><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Cytogénétique et Embryologie</wicri:noRegion><wicri:noRegion>Département de Génétique, Cytogénétique et Embryologie</wicri:noRegion></affiliation></author><author><name sortKey="Ahmed, Ammar E M" sort="Ahmed, Ammar E M" uniqKey="Ahmed A" first="Ammar E. M." last="Ahmed">Ammar E. M. Ahmed</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Physiology, Faculty of Medicine, University of Khartoum</s1><s2>Khartoum</s2><s3>SDN</s3><sZ>9 aut.</sZ></inist:fA14><country>Soudan</country><wicri:noRegion>Khartoum</wicri:noRegion></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion><wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion><wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion><wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryologie</s1><s3>FRA</s3><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Cytogénétique et Embryologie</wicri:noRegion><wicri:noRegion>Département de Génétique, Cytogénétique et Embryologie</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Fédération de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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>Adenosine</term><term>Mutation</term><term>Nervous system diseases</term><term>Orientation</term><term>Parkinsonism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Parkinsonisme</term><term>Mutation</term><term>Adénosine</term><term>Orientation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at lp36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0003-9942</s0></fA01><fA02 i1="01"><s0>ARNEAS</s0></fA02><fA03 i2="1"><s0>Arch. neurol. : (Chic.)</s0></fA03><fA05><s2>63</s2></fA05><fA06><s2>9</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1</s1></fA08><fA11 i1="01" i2="1"><s1>LEUTENEGGER (Anne-Louise)</s1></fA11><fA11 i1="02" i2="1"><s1>SALIH (Mustafa A. M.)</s1></fA11><fA11 i1="03" i2="1"><s1>IBANEZ (Pablo)</s1></fA11><fA11 i1="04" i2="1"><s1>MUKHTAR (Maowia M.)</s1></fA11><fA11 i1="05" i2="1"><s1>LESAGE (Suzanne)</s1></fA11><fA11 i1="06" i2="1"><s1>ARABI (All)</s1></fA11><fA11 i1="07" i2="1"><s1>LOHMANN (Ebba)</s1></fA11><fA11 i1="08" i2="1"><s1>DÜRR (Alexandra)</s1></fA11><fA11 i1="09" i2="1"><s1>AHMED (Ammar E. M.)</s1></fA11><fA11 i1="10" i2="1"><s1>BRICE (Alexis)</s1></fA11><fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="04"><s1>Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University</s1><s2>Riyadh</s2><s3>SAU</s3><sZ>2 aut.</sZ></fA14><fA14 i1="05"><s1>Institute of Endemic Diseases, Faculty of Medicine, University of Khartoum</s1><s2>Khartoum</s2><s3>SDN</s3><sZ>4 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Pediatrics, Faculty of Medicine, University of Khartoum</s1><s2>Khartoum</s2><s3>SDN</s3><sZ>6 aut.</sZ></fA14><fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryologie</s1><s3>FRA</s3><sZ>8 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Physiology, Faculty of Medicine, University of Khartoum</s1><s2>Khartoum</s2><s3>SDN</s3><sZ>9 aut.</sZ></fA14><fA14 i1="09"><s1>Fédération de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>10 aut.</sZ></fA14><fA20><s1>1257-1261</s1></fA20><fA21><s1>2006</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>2048B</s2><s5>354000157190580060</s5></fA43><fA44><s0>0000</s0><s1>© 2006 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>10 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>06-0451706</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: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at lp36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.</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>002B17H</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>Parkinsonisme</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Adénosine</s0><s2>NK</s2><s2>FR</s2><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Adenosine</s0><s2>NK</s2><s2>FR</s2><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Adenosina</s0><s2>NK</s2><s2>FR</s2><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Orientation</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Orientation</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Orientación</s0><s5>11</s5></fC03><fN21><s1>296</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Arabie saoudite</li><li>France</li><li>Soudan</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name></noRegion><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name><name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name><name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></country><country name="Arabie saoudite"><noRegion><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name></noRegion></country><country name="Soudan"><noRegion><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M." last="Mukhtar">Maowia M. Mukhtar</name></noRegion><name sortKey="Ahmed, Ammar E M" sort="Ahmed, Ammar E M" uniqKey="Ahmed A" first="Ammar E. M." last="Ahmed">Ammar E. M. Ahmed</name><name sortKey="Arabi, All" sort="Arabi, All" uniqKey="Arabi A" first="All" last="Arabi">All Arabi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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