MovDisordV3, Main, Merge, bibRecord, 002F59

Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism

Identifieur interne : 002F59 ( Main/Merge ); précédent : 002F58; suivant : 002F60

Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism

Auteurs : Ming-Jen Lee [Taïwan] ; Ignacio F. Mata [États-Unis] ; Chin-Hsien Lin [Taïwan] ; Kai-Yuan Tzen [Taïwan] ; Sarah J. Lincoln [États-Unis] ; Rebecca Bounds [États-Unis] ; Paul J. Lockhart [Australie] ; Mary M. Hulihan [États-Unis] ; Matthew J. Farrer [États-Unis] ; Ruey-Meei Wu [Taïwan]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0094114

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Maladie de Parkinson, Pathologie du système nerveux, Génotype, Phénotype, Homme, Parkine.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Genotype, Human, Nervous system diseases, Parkin, Parkinson disease, Parkinsonism, Phenotype.

Abstract

We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ-1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese-Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy.

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Pascal:09-0094114

Le document en format XML

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<author><name sortKey="Lee, Ming Jen" sort="Lee, Ming Jen" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name>
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<author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name>
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<author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
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<author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism</title>
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<s3>TWN</s3>
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<wicri:noRegion>Taipei</wicri:noRegion>
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<author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine</s1>
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<s2>Jacksonville, Florida</s2>
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<author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
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<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute</s1>
<s2>Melbourne, Victoria</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Melbourne, Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
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<country>États-Unis</country>
<placeName><region type="state">Floride</region>
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</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
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<sZ>5 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>3 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</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="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genotype</term>
<term>Human</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term>
<term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Génotype</term>
<term>Phénotype</term>
<term>Homme</term>
<term>Parkine</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ-1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese-Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Taïwan</li>
<li>États-Unis</li>
</country>
<region><li>Floride</li>
</region>
</list>
<tree><country name="Taïwan"><noRegion><name sortKey="Lee, Ming Jen" sort="Lee, Ming Jen" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name>
</noRegion>
<name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name>
<name sortKey="Tzen, Kai Yuan" sort="Tzen, Kai Yuan" uniqKey="Tzen K" first="Kai-Yuan" last="Tzen">Kai-Yuan Tzen</name>
<name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name>
</country>
<country name="États-Unis"><region name="Floride"><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
</region>
<name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name>
<name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name>
</country>
<country name="Australie"><noRegion><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism

Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri