La maladie de Parkinson en France (serveur d'exploration)

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Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1

Identifieur interne : 002B15 ( Main/Exploration ); précédent : 002B14; suivant : 002B16

Juvenile-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 :

RBID : Pascal:06-0451706

Descripteurs français

English descriptors

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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<s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</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>
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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>
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<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<s1>Département de Génétique, Cytogénétique et Embryologie</s1>
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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>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
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<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>
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</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>
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<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>
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<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Adenosine</term>
<term>Adenosine Triphosphate (metabolism)</term>
<term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Alanine (genetics)</term>
<term>Amino Acid Sequence</term>
<term>Aspartic Acid (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Orientation</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Protein Kinases (genetics)</term>
<term>Sudan</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Alanine</term>
<term>Aspartic Acid</term>
<term>Protein Kinases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en">
<term>Adenosine Triphosphate</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en">
<term>Sudan</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Amino Acid Sequence</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</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>
<keywords scheme="Wicri" type="geographic" xml:lang="fr">
<term>Soudan</term>
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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>
</front>
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<li>Arabie saoudite</li>
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<li>Paris</li>
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<name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
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<name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M." last="Mukhtar">Maowia M. Mukhtar</name>
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<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>
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   |texte=   Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1
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