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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- Pascal (Inist)
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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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<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>
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<wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion>
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<country>France</country>
<wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion>
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<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>
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<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>
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<wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion>
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<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryologie</s1>
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<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>
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<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>
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<sZ>1 aut.</sZ>
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<sZ>8 aut.</sZ>
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<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>
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<wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion>
<wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion>
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<wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion>
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<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
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<country>France</country>
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<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Fédération de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
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<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
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<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>
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<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>
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<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>
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<sZ>2 aut.</sZ>
</fA14>
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<sZ>4 aut.</sZ>
</fA14>
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<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
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<s3>SDN</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Fédération de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
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<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>
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<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>
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