Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family
Identifieur interne : 002C75 ( Main/Exploration ); précédent : 002C74; suivant : 002C76Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family
Auteurs : Anja Hiller [Allemagne] ; Johann M. Hagenah [Allemagne] ; Ana Djarmati [Allemagne] ; Katja Hedrich [Allemagne] ; Kathrin Reetz [Allemagne] ; Christiane Schneider-Gold [Allemagne] ; Wolfgang Kress [Allemagne] ; Alexander Münchau [Allemagne] ; Christine Klein [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Carrier, Carrier State, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Nervous system diseases, PINK1, Parkinsonian Disorders (genetics), Parkinsonism, Phenotype, Protein Kinases (genetics), mutation carriers, phenotype.
- MESH :
- chemical , genetics : Protein Kinases.
- genetics : Parkinsonian Disorders.
- Adult, Aged, Carrier State, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Phenotype.
Abstract
The phenotypic spectrum of PINK1‐associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21059
Affiliations:
- Allemagne
- Basse-Saxe, Bavière, District de Basse-Franconie, Hambourg
- Göttingen, Hambourg, Wurtzbourg
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Le document en format XML
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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="2007-01">2007-01</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="145">145</biblScope><biblScope unit="page" to="147">147</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B1CDA608BC05D3455858DFF0A2EEF4598D3240C2</idno><idno type="DOI">10.1002/mds.21059</idno><idno type="ArticleID">MDS21059</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Carrier</term><term>Carrier State</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>PINK1</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Phenotype</term><term>Protein Kinases (genetics)</term><term>mutation carriers</term><term>phenotype</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Carrier State</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>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term><term>Parkinsonisme</term><term>Phénotype</term><term>Porteur</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The phenotypic spectrum of PINK1‐associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Basse-Saxe</li><li>Bavière</li><li>District de Basse-Franconie</li><li>Hambourg</li></region><settlement><li>Göttingen</li><li>Hambourg</li><li>Wurtzbourg</li></settlement></list><tree><country name="Allemagne"><noRegion><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name></noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><name sortKey="Hagenah, Johann M" sort="Hagenah, Johann M" uniqKey="Hagenah J" first="Johann M." last="Hagenah">Johann M. Hagenah</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Kress, Wolfgang" sort="Kress, Wolfgang" uniqKey="Kress W" first="Wolfgang" last="Kress">Wolfgang Kress</name><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name><name sortKey="Schneider Old, Christiane" sort="Schneider Old, Christiane" uniqKey="Schneider Old C" first="Christiane" last="Schneider-Gold">Christiane Schneider-Gold</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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