Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
Identifieur interne : 002289 ( Main/Exploration ); 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
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="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></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">78A0B29962C731B2F0E869057FC0A0F0F557D090</idno><idno type="DOI">10.1002/mds.22093</idno><idno type="ArticleID">MDS22093</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><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></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="Pascal" xml:lang="fr"><term>Génotype</term><term>Homme</term><term>Maladie de Parkinson</term><term>Parkine</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Phénotype</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Taïwan</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">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></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 En" sort="Lee, Ming En" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name></noRegion><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><name sortKey="Tzen, Kai Uan" sort="Tzen, Kai Uan" uniqKey="Tzen K" first="Kai-Yuan" last="Tzen">Kai-Yuan Tzen</name><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" 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>Pour manipuler ce document sous Unix (Dilib)
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