MovDisordV3, PascalFrancis, Corpus, bibRecord, 000F99

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

Identifieur interne : 000F99 ( PascalFrancis/Corpus ); précédent : 000F98; suivant : 001000

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

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

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.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 24`
A06				`@2 1`
A08	`01`	`1`	`ENG`	`@1 Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism`
A11	`01`	`1`		`@1 LEE (Ming-Jen)`
A11	`02`	`1`		`@1 MATA (Ignacio F.)`
A11	`03`	`1`		`@1 LIN (Chin-Hsien)`
A11	`04`	`1`		`@1 TZEN (Kai-Yuan)`
A11	`05`	`1`		`@1 LINCOLN (Sarah J.)`
A11	`06`	`1`		`@1 BOUNDS (Rebecca)`
A11	`07`	`1`		`@1 LOCKHART (Paul J.)`
A11	`08`	`1`		`@1 HULIHAN (Mary M.)`
A11	`09`	`1`		`@1 FARRER (Matthew J.)`
A11	`10`	`1`		`@1 WU (Ruey-Meei)`
A14	`01`			`@1 Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, National Taiwan University @2 Taipei @3 TWN @Z 1 aut.`
A14	`02`			`@1 Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine @2 Jacksonville, Florida @3 USA @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 8 aut. @Z 9 aut.`
A14	`03`			`@1 Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University @2 Taipei @3 TWN @Z 3 aut. @Z 10 aut.`
A14	`04`			`@1 Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University @2 Taipei @3 TWN @Z 4 aut.`
A14	`05`			`@1 Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute @2 Melbourne, Victoria @3 AUS @Z 7 aut.`
A20				`@1 104-108`
A21				`@1 2009`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000186473060140`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 31 ref.`
A47	`01`	`1`		`@0 09-0094114`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 03`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 03`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 03`
C03	`04`	`X`	`FRE`	`@0 Génotype @5 09`
C03	`04`	`X`	`ENG`	`@0 Genotype @5 09`
C03	`04`	`X`	`SPA`	`@0 Genotipo @5 09`
C03	`05`	`X`	`FRE`	`@0 Phénotype @5 10`
C03	`05`	`X`	`ENG`	`@0 Phenotype @5 10`
C03	`05`	`X`	`SPA`	`@0 Fenotipo @5 10`
C03	`06`	`X`	`FRE`	`@0 Homme @5 11`
C03	`06`	`X`	`ENG`	`@0 Human @5 11`
C03	`06`	`X`	`SPA`	`@0 Hombre @5 11`
C03	`07`	`X`	`FRE`	`@0 Parkine @5 12`
C03	`07`	`X`	`ENG`	`@0 Parkin @5 12`
C03	`07`	`X`	`SPA`	`@0 Parkin @5 12`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 38`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 38`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 38`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 39`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 39`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 39`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 40`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 40`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 40`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 41`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
N21				`@1 068`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0094114 INIST
ET :	Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism
AU :	LEE (Ming-Jen); MATA (Ignacio F.); LIN (Chin-Hsien); TZEN (Kai-Yuan); LINCOLN (Sarah J.); BOUNDS (Rebecca); LOCKHART (Paul J.); HULIHAN (Mary M.); FARRER (Matthew J.); WU (Ruey-Meei)
AF :	Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (1 aut.); Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine/Jacksonville, Florida/Etats-Unis (2 aut., 5 aut., 6 aut., 8 aut., 9 aut.); Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (3 aut., 10 aut.); Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (4 aut.); Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute/Melbourne, Victoria/Australie (7 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 1; Pp. 104-108; Bibl. 31 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Parkinsonisme; Maladie de Parkinson; Pathologie du système nerveux; Génotype; Phénotype; Homme; Parkine
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinsonism; Parkinson disease; Nervous system diseases; Genotype; Phenotype; Human; Parkin
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Genotipo; Fenotipo; Hombre; Parkin
LO :	INIST-20953.354000186473060140
ID :	09-0094114

Links to Exploration step

Pascal:09-0094114

Le document en format XML

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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>
<author><name sortKey="Lee, Ming Jen" sort="Lee, Ming Jen" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
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<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<author><name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name>
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<author><name sortKey="Tzen, Kai Yuan" sort="Tzen, Kai Yuan" uniqKey="Tzen K" first="Kai-Yuan" last="Tzen">Kai-Yuan Tzen</name>
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<s2>Taipei</s2>
<s3>TWN</s3>
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<author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name>
<affiliation><inist:fA14 i1="02"><s1>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine</s1>
<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>
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<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
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<author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name>
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<s2>Melbourne, Victoria</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
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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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<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
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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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<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
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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>
<affiliation><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>
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<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>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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</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>
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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>
</TEI>
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<fA08 i1="01" i2="1" l="ENG"><s1>Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism</s1>
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<fA11 i1="01" i2="1"><s1>LEE (Ming-Jen)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>MATA (Ignacio F.)</s1>
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<fA11 i1="03" i2="1"><s1>LIN (Chin-Hsien)</s1>
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<fA11 i1="04" i2="1"><s1>TZEN (Kai-Yuan)</s1>
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<fA11 i1="05" i2="1"><s1>LINCOLN (Sarah J.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>BOUNDS (Rebecca)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>LOCKHART (Paul J.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>HULIHAN (Mary M.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>FARRER (Matthew J.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>WU (Ruey-Meei)</s1>
</fA11>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA20><s1>104-108</s1>
</fA20>
<fA21><s1>2009</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000186473060140</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2009 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>31 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>09-0094114</s0>
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</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Génotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Genotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Genotipo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Homme</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Human</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Hombre</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Parkine</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Parkin</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Parkin</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fN21><s1>068</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 09-0094114 INIST</NO>
<ET>Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism</ET>
<AU>LEE (Ming-Jen); MATA (Ignacio F.); LIN (Chin-Hsien); TZEN (Kai-Yuan); LINCOLN (Sarah J.); BOUNDS (Rebecca); LOCKHART (Paul J.); HULIHAN (Mary M.); FARRER (Matthew J.); WU (Ruey-Meei)</AU>
<AF>Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (1 aut.); Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine/Jacksonville, Florida/Etats-Unis (2 aut., 5 aut., 6 aut., 8 aut., 9 aut.); Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (3 aut., 10 aut.); Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (4 aut.); Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute/Melbourne, Victoria/Australie (7 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 1; Pp. 104-108; Bibl. 31 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Parkinsonisme; Maladie de Parkinson; Pathologie du   système nerveux; Génotype; Phénotype; Homme; Parkine</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinsonism; Parkinson disease; Nervous system diseases; Genotype; Phenotype; Human; Parkin</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Genotipo; Fenotipo; Hombre; Parkin</SD>
<LO>INIST-20953.354000186473060140</LO>
<ID>09-0094114</ID>
</server>
</inist>
</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

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