Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism
Identifieur interne : 005F44 ( Main/Merge ); précédent : 005F43; suivant : 005F45Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism
Auteurs : Sergei N. Illarioshkin [Russie] ; Magali Periquet [France] ; Nina Rawal [France] ; Christoph B. Lücking [France] ; Tatyana B. Zagorovskaya [Russie] ; Pyotr A. Slominsky [Russie] ; Olga V. Miloserdova [Russie] ; Elena D. Markova [Russie] ; Svetlana A. Limborska [Russie] ; Irina A. Ivanova-Smolenskaya [Russie] ; Alexis Brice [France]Source :
- Movement disorders [ 0885-3185 ] ; 2003.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
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Abstract
Autosomal recessive juvenile parkinsonism (AR-JP) is a form of hereditary parkinsonism characterized by variable clinical presentations and caused by mutations in a novel gene, parkin, on chromosome 6q25.2-27. Until now, no Russian cases of parkin-associated AR-JP have been reported on. We recruited 16 patients from 11 Russian families with dopa-responsive movement disorders according to the following criteria: 1) family history compatible with autosomal recessive inheritance; 2) onset of symptoms at ≤30 years of age; and 3) the lack of mutations in the GTP cyclohydrolase I gene (in sporadic cases). Mutation screening of the parkin gene was carried out by a semiquantitative PCR assay and direct sequencing of the coding region. Six different parkin mutations (both deletions and point mutations) were identified in the index cases from four families, including a novel point mutation in the donor splice site (IVS1+1G→A). The majority of our parkin-associated cases were characterized by early-onset dopa-responsive parkinsonism with benign course and slow progression (5 patients from two families have been followed for as long as 18-36 years), and 1 patient had a phenotype of dopa-responsive dystonia. This first description of Russian patients with AR-JP and molecularly proven parkin mutations confirms the widespread occurrence of this polymorphic hereditary extrapyramidal disorder.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism</title><author><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N." last="Illarioshkin">Sergei N. Illarioshkin</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Periquet, Magali" sort="Periquet, Magali" uniqKey="Periquet M" first="Magali" last="Periquet">Magali Periquet</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U289</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rawal, Nina" sort="Rawal, Nina" uniqKey="Rawal N" first="Nina" last="Rawal">Nina Rawal</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U289</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lucking, Christoph B" sort="Lucking, Christoph B" uniqKey="Lucking C" first="Christoph B." last="Lücking">Christoph B. 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Zagorovskaya</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Slominsky, Pyotr A" sort="Slominsky, Pyotr A" uniqKey="Slominsky P" first="Pyotr A." last="Slominsky">Pyotr A. 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Miloserdova</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Markova, Elena D" sort="Markova, Elena D" uniqKey="Markova E" first="Elena D." last="Markova">Elena D. Markova</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Limborska, Svetlana A" sort="Limborska, Svetlana A" uniqKey="Limborska S" first="Svetlana A." last="Limborska">Svetlana A. Limborska</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Ivanova Smolenskaya, Irina A" sort="Ivanova Smolenskaya, Irina A" uniqKey="Ivanova Smolenskaya I" first="Irina A." last="Ivanova-Smolenskaya">Irina A. Ivanova-Smolenskaya</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></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="02"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U289</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Département de Génétique, Cytogénétique et Embryologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">04-0010098</idno><date when="2003">2003</date><idno type="stanalyst">PASCAL 04-0010098 INIST</idno><idno type="RBID">Pascal:04-0010098</idno><idno type="wicri:Area/PascalFrancis/Corpus">002429</idno><idno type="wicri:Area/PascalFrancis/Curation">000892</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002398</idno><idno type="wicri:doubleKey">0885-3185:2003:Illarioshkin S:mutation:analysis:of</idno><idno type="wicri:Area/Main/Merge">005F44</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism</title><author><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N." last="Illarioshkin">Sergei N. Illarioshkin</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Periquet, Magali" sort="Periquet, Magali" uniqKey="Periquet M" first="Magali" last="Periquet">Magali Periquet</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U289</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rawal, Nina" sort="Rawal, Nina" uniqKey="Rawal N" first="Nina" last="Rawal">Nina Rawal</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U289</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lucking, Christoph B" sort="Lucking, Christoph B" uniqKey="Lucking C" first="Christoph B." last="Lücking">Christoph B. Lücking</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U289</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Zagorovskaya, Tatyana B" sort="Zagorovskaya, Tatyana B" uniqKey="Zagorovskaya T" first="Tatyana B." last="Zagorovskaya">Tatyana B. Zagorovskaya</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Slominsky, Pyotr A" sort="Slominsky, Pyotr A" uniqKey="Slominsky P" first="Pyotr A." last="Slominsky">Pyotr A. Slominsky</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Miloserdova, Olga V" sort="Miloserdova, Olga V" uniqKey="Miloserdova O" first="Olga V." last="Miloserdova">Olga V. Miloserdova</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Markova, Elena D" sort="Markova, Elena D" uniqKey="Markova E" first="Elena D." last="Markova">Elena D. Markova</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Limborska, Svetlana A" sort="Limborska, Svetlana A" uniqKey="Limborska S" first="Svetlana A." last="Limborska">Svetlana A. Limborska</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Ivanova Smolenskaya, Irina A" sort="Ivanova Smolenskaya, Irina A" uniqKey="Ivanova Smolenskaya I" first="Irina A." last="Ivanova-Smolenskaya">Irina A. Ivanova-Smolenskaya</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences</s1><s2>Moscow</s2><s3>RUS</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Russie</country><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></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="02"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U289</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Département de Génétique, Cytogénétique et Embryologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2003">2003</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term><term>Family study</term><term>Gene</term><term>Genetic determinism</term><term>Human</term><term>Juvenile character</term><term>Mutation</term><term>Parkinsonism</term><term>Recessive character</term><term>Russian</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Caractère juvénile</term><term>Caractère autosomique</term><term>Caractère récessif</term><term>Mutation</term><term>Gène</term><term>Russe</term><term>Déterminisme génétique</term><term>Etude familiale</term><term>Homme</term><term>Parkin</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive juvenile parkinsonism (AR-JP) is a form of hereditary parkinsonism characterized by variable clinical presentations and caused by mutations in a novel gene, parkin, on chromosome 6q25.2-27. Until now, no Russian cases of parkin-associated AR-JP have been reported on. We recruited 16 patients from 11 Russian families with dopa-responsive movement disorders according to the following criteria: 1) family history compatible with autosomal recessive inheritance; 2) onset of symptoms at ≤30 years of age; and 3) the lack of mutations in the GTP cyclohydrolase I gene (in sporadic cases). Mutation screening of the parkin gene was carried out by a semiquantitative PCR assay and direct sequencing of the coding region. Six different parkin mutations (both deletions and point mutations) were identified in the index cases from four families, including a novel point mutation in the donor splice site (IVS1+1G→A). The majority of our parkin-associated cases were characterized by early-onset dopa-responsive parkinsonism with benign course and slow progression (5 patients from two families have been followed for as long as 18-36 years), and 1 patient had a phenotype of dopa-responsive dystonia. This first description of Russian patients with AR-JP and molecularly proven parkin mutations confirms the widespread occurrence of this polymorphic hereditary extrapyramidal disorder.</div></front></TEI><affiliations><list><country><li>France</li><li>Russie</li></country><region><li>District fédéral central</li></region><settlement><li>Moscou</li><li>Paris</li></settlement></list><tree><country name="Russie"><region name="District fédéral central"><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N." last="Illarioshkin">Sergei N. Illarioshkin</name></region><name sortKey="Ivanova Smolenskaya, Irina A" sort="Ivanova Smolenskaya, Irina A" uniqKey="Ivanova Smolenskaya I" first="Irina A." last="Ivanova-Smolenskaya">Irina A. Ivanova-Smolenskaya</name><name sortKey="Limborska, Svetlana A" sort="Limborska, Svetlana A" uniqKey="Limborska S" first="Svetlana A." last="Limborska">Svetlana A. Limborska</name><name sortKey="Markova, Elena D" sort="Markova, Elena D" uniqKey="Markova E" first="Elena D." last="Markova">Elena D. Markova</name><name sortKey="Miloserdova, Olga V" sort="Miloserdova, Olga V" uniqKey="Miloserdova O" first="Olga V." last="Miloserdova">Olga V. Miloserdova</name><name sortKey="Slominsky, Pyotr A" sort="Slominsky, Pyotr A" uniqKey="Slominsky P" first="Pyotr A." last="Slominsky">Pyotr A. Slominsky</name><name sortKey="Zagorovskaya, Tatyana B" sort="Zagorovskaya, Tatyana B" uniqKey="Zagorovskaya T" first="Tatyana B." last="Zagorovskaya">Tatyana B. Zagorovskaya</name></country><country name="France"><noRegion><name sortKey="Periquet, Magali" sort="Periquet, Magali" uniqKey="Periquet M" first="Magali" last="Periquet">Magali Periquet</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="Lucking, Christoph B" sort="Lucking, Christoph B" uniqKey="Lucking C" first="Christoph B." last="Lücking">Christoph B. Lücking</name><name sortKey="Rawal, Nina" sort="Rawal, Nina" uniqKey="Rawal N" first="Nina" last="Rawal">Nina Rawal</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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