Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism
Identifieur interne : 000452 ( France/Analysis ); précédent : 000451; suivant : 000453Mutation 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 ] ; 2003-08.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Antiparkinson Agents (therapeutic use), Autosomal character, DNA Mutational Analysis, Family study, GTP Cyclohydrolase (genetics), Gene, Genetic determinism, Human, Humans, Juvenile character, Levodopa (therapeutic use), Middle Aged, Mutation, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (ethnology), Parkinsonian Disorders (genetics), Parkinsonism, Pedigree, Point Mutation (genetics), Recessive character, Russian, Severity of Illness Index, Ubiquitin-Protein Ligases (genetics), juvenile parkinsonism, mutation analysis, parkin gene.
- MESH :
- chemical , genetics : GTP Cyclohydrolase, Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- drug therapy : Parkinsonian Disorders.
- ethnology : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders, Point Mutation.
- Adult, DNA Mutational Analysis, Humans, Middle Aged, Pedigree, Severity of Illness Index.
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. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10467
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-08">2003-08</date><biblScope unit="vol">18</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="914">914</biblScope><biblScope unit="page" to="919">919</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F03657193E9DFD49B1D9C6DF0E8D42358282BC4C</idno><idno type="DOI">10.1002/mds.10467</idno><idno type="ArticleID">MDS10467</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antiparkinson Agents (therapeutic use)</term><term>Autosomal character</term><term>DNA Mutational Analysis</term><term>Family study</term><term>GTP Cyclohydrolase (genetics)</term><term>Gene</term><term>Genetic determinism</term><term>Human</term><term>Humans</term><term>Juvenile character</term><term>Levodopa (therapeutic use)</term><term>Middle Aged</term><term>Mutation</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (ethnology)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Pedigree</term><term>Point Mutation (genetics)</term><term>Recessive character</term><term>Russian</term><term>Severity of Illness Index</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>juvenile parkinsonism</term><term>mutation analysis</term><term>parkin gene</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GTP Cyclohydrolase</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Middle Aged</term><term>Pedigree</term><term>Severity of Illness Index</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Caractère autosomique</term><term>Caractère juvénile</term><term>Caractère récessif</term><term>Déterminisme génétique</term><term>Etude familiale</term><term>Gène</term><term>Homme</term><term>Mutation</term><term>Parkin</term><term>Parkinsonisme</term><term>Russe</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2003 Movement Disorder Society</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 Molenskaya, Irina A" sort="Ivanova Molenskaya, Irina A" uniqKey="Ivanova Molenskaya 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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