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
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- 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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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism</title>
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<author><name sortKey="Miloserdova, Olga V" sort="Miloserdova, Olga V" uniqKey="Miloserdova O" first="Olga V." last="Miloserdova">Olga V. Miloserdova</name>
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<author><name sortKey="Markova, Elena D" sort="Markova, Elena D" uniqKey="Markova E" first="Elena D." last="Markova">Elena D. Markova</name>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<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>
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<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>
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<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>
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<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>
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