Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
Identifieur interne : 003399 ( Main/Exploration ); précédent : 003398; suivant : 003400Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
Auteurs : Cindy Zadikoff [Canada] ; Ekaterina Rogaeva [Canada] ; Ana Djarmati [Allemagne] ; Christine Sato [Canada] ; Shabnam Salehi-Rad [Canada] ; Peter St. George-Hyslop [Canada] ; Christine Klein [Canada, Allemagne] ; Anthony E. Lang [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-06-06.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Care, Codon, Nonsense, Diagnosis, Heterozygote Detection, Homozygosity, Homozygote, Human, Humans, Male, Middle Aged, Mutation, Mutation, Missense, Nervous system diseases, PINK1, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson Disease (therapy), Parkinson disease, Parkinson's disease, Protein Kinases (genetics), gene, mutation.
- MESH :
- chemical , genetics : Protein Kinases.
- chemical : Codon, Nonsense.
- diagnosis : Parkinson Disease.
- genetics : Parkinson Disease.
- therapy : Parkinson Disease.
- Adult, Heterozygote Detection, Homozygote, Humans, Male, Middle Aged, Mutation, Missense.
Abstract
The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.20854
Affiliations:
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Le document en format XML
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<term>Care</term>
<term>Codon, Nonsense</term>
<term>Diagnosis</term>
<term>Heterozygote Detection</term>
<term>Homozygosity</term>
<term>Homozygote</term>
<term>Human</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Mutation, Missense</term>
<term>Nervous system diseases</term>
<term>PINK1</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (therapy)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Protein Kinases (genetics)</term>
<term>gene</term>
<term>mutation</term>
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<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Heterozygote Detection</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
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<term>Homme</term>
<term>Homozygotie</term>
<term>Mutation</term>
<term>Parkinson maladie</term>
<term>Soin</term>
<term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society</div>
</front>
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<li>Canada</li>
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<tree><country name="Canada"><noRegion><name sortKey="Zadikoff, Cindy" sort="Zadikoff, Cindy" uniqKey="Zadikoff C" first="Cindy" last="Zadikoff">Cindy Zadikoff</name>
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<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<name sortKey="Salehi Ad, Shabnam" sort="Salehi Ad, Shabnam" uniqKey="Salehi Ad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name>
<name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
<name sortKey="St George Yslop, Peter" sort="St George Yslop, Peter" uniqKey="St George Yslop P" first="Peter" last="St. George-Hyslop">Peter St. George-Hyslop</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
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<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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