Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
Identifieur interne : 002289 ( Main/Curation ); précédent : 002288; suivant : 002290Genotype–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 ] ; 2009-01-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Amino Acid Substitution, Asian Continental Ancestry Group (genetics), China (ethnology), Cohort Studies, DJ‐1, Exons (genetics), Female, Gene Frequency, Genes, Recessive, Genotype, Human, Humans, Intracellular Signaling Peptides and Proteins (genetics), Male, Middle Aged, Mutation, Missense, Nervous system diseases, Oncogene Proteins (genetics), PARKIN, PINK1, Parkin, Parkinson disease, Parkinson's disease, Parkinsonian Disorders (ethnology), Parkinsonian Disorders (genetics), Parkinsonism, Phenotype, Polymerase Chain Reaction, Protein Kinases (genetics), RNA, Messenger (genetics), Taiwan (epidemiology), Taiwanese, Ubiquitin-Protein Ligases (genetics), Young Adult, early‐onset parkinsonism.
- MESH :
- chemical , genetics : Intracellular Signaling Peptides and Proteins, Oncogene Proteins, Protein Kinases, RNA, Messenger, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Taiwan.
- geographic , ethnology : China.
- ethnology : Parkinsonian Disorders.
- genetics : Asian Continental Ancestry Group, Exons, Parkinsonian Disorders.
- Adolescent, Adult, Age of Onset, Amino Acid Substitution, Cohort Studies, Female, Gene Frequency, Genes, Recessive, Genotype, Humans, Male, Middle Aged, Mutation, Missense, Phenotype, Polymerase Chain Reaction, Young Adult.
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. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22093
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Amino Acid Substitution</term>
<term>Asian Continental Ancestry Group (genetics)</term>
<term>China (ethnology)</term>
<term>Cohort Studies</term>
<term>DJ‐1</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genes, Recessive</term>
<term>Genotype</term>
<term>Human</term>
<term>Humans</term>
<term>Intracellular Signaling Peptides and Proteins (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Nervous system diseases</term>
<term>Oncogene Proteins (genetics)</term>
<term>PARKIN</term>
<term>PINK1</term>
<term>Parkin</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Parkinsonian Disorders (ethnology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
<term>Protein Kinases (genetics)</term>
<term>RNA, Messenger (genetics)</term>
<term>Taiwan (epidemiology)</term>
<term>Taiwanese</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>Young Adult</term>
<term>early‐onset parkinsonism</term>
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<term>Oncogene Proteins</term>
<term>Protein Kinases</term>
<term>RNA, Messenger</term>
<term>Ubiquitin-Protein Ligases</term>
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</keywords>
<keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>China</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinsonian Disorders</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term>
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<term>Parkinsonian Disorders</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Amino Acid Substitution</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genes, Recessive</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
<term>Young Adult</term>
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<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. © 2008 Movement Disorder Society</div>
</front>
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<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>
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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>
<author><name sortKey="Lee, Ming Jen" sort="Lee, Ming Jen" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, National Taiwan University</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</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>
<author><name sortKey="Tzen, Kai Yuan" sort="Tzen, Kai Yuan" uniqKey="Tzen K" first="Kai-Yuan" last="Tzen">Kai-Yuan Tzen</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</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>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<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>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<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>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</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>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</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>
<title level="j" type="abbreviated">Mov. disord.</title>
<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>
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<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>
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<author><name sortKey="Lee, Ming En" sort="Lee, Ming En" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name>
</author>
<author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
</author>
<author><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name>
</author>
<author><name sortKey="Tzen, Kai Uan" sort="Tzen, Kai Uan" uniqKey="Tzen K" first="Kai-Yuan" last="Tzen">Kai-Yuan Tzen</name>
</author>
<author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name>
</author>
<author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name>
</author>
<author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name>
</author>
<author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
</author>
<author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title>
<author><name sortKey="Lee, Ming En" sort="Lee, Ming En" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name>
<affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Medical Genetics, National TaiwanUniversity Hospital and College of Medicine, National Taiwan University, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<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"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name>
<affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tzen, Kai Uan" sort="Tzen, Kai Uan" uniqKey="Tzen K" first="Kai-Yuan" last="Tzen">Kai-Yuan Tzen</name>
<affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<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"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Bruce Lefroy Centre for Genetic Health Research,Murdoch Childrens Research Institute, Melbourne, Victoria</wicri:regionArea>
<wicri:noRegion>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"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</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"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name>
<affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. 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="2009-01-15">2009-01-15</date>
<biblScope unit="vol">24</biblScope>
<biblScope unit="issue">1</biblScope>
<biblScope unit="page" from="104">104</biblScope>
<biblScope unit="page" to="108">108</biblScope>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Amino Acid Substitution</term>
<term>Asian Continental Ancestry Group (genetics)</term>
<term>China (ethnology)</term>
<term>Cohort Studies</term>
<term>DJ‐1</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genes, Recessive</term>
<term>Genotype</term>
<term>Humans</term>
<term>Intracellular Signaling Peptides and Proteins (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Oncogene Proteins (genetics)</term>
<term>PARKIN</term>
<term>PINK1</term>
<term>Parkinson's disease</term>
<term>Parkinsonian Disorders (ethnology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
<term>Protein Kinases (genetics)</term>
<term>RNA, Messenger (genetics)</term>
<term>Taiwan (epidemiology)</term>
<term>Taiwanese</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>Young Adult</term>
<term>early‐onset parkinsonism</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term>
<term>Oncogene Proteins</term>
<term>Protein Kinases</term>
<term>RNA, Messenger</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Taiwan</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>China</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term>
<term>Exons</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Amino Acid Substitution</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genes, Recessive</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Taïwan</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</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. © 2008 Movement Disorder Society</div>
</front>
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