MovDisordV3, PascalFrancis, Curation, bibRecord, 001504

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

Identifieur interne : 001504 ( PascalFrancis/Curation ); précédent : 001503; suivant : 001505

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

Auteurs : Anja Hiller [Allemagne] ; Johann M. Hagenah [Allemagne] ; Ana Djarmati [Allemagne] ; Katja Hedrich [Allemagne] ; Kathrin Reetz [Allemagne] ; Christiane Schneider-Gold [Allemagne] ; Wolfgang Kress [Allemagne] ; Alexander Münchau [Allemagne] ; Christine Klein [Allemagne]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0133235

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme, Mutation, Porteur, Phénotype.

English descriptors

KwdEn :
- Carrier, Mutation, Nervous system diseases, Parkinsonism, Phenotype.

Abstract

The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.

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A08	`01`	`1`	`ENG`	`@1 Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family`
A11	`01`	`1`		`@1 HILLER (Anja)`
A11	`02`	`1`		`@1 HAGENAH (Johann M.)`
A11	`03`	`1`		`@1 DJARMATI (Ana)`
A11	`04`	`1`		`@1 HEDRICH (Katja)`
A11	`05`	`1`		`@1 REETZ (Kathrin)`
A11	`06`	`1`		`@1 SCHNEIDER-GOLD (Christiane)`
A11	`07`	`1`		`@1 KRESS (Wolfgang)`
A11	`08`	`1`		`@1 MÜNCHAU (Alexander)`
A11	`09`	`1`		`@1 KLEIN (Christine)`
A14	`01`			`@1 Department of Neurology, University of Lübeck @2 Lubeck @3 DEU @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 9 aut.`
A14	`02`			`@1 Department of Neurology, Georg-August University @2 Göttingen @3 DEU @Z 6 aut.`
A14	`03`			`@1 Department of Human Genetics, Julius-Maximilians University @2 Würzburg @3 DEU @Z 7 aut.`
A14	`04`			`@1 Department of Neurology, University of Hamburg @2 Hamburg @3 DEU @Z 8 aut.`
A20				`@1 145-147`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000145483830260`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 6 ref.`
A47	`01`	`1`		`@0 07-0133235`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17H`
C02	`04`	`X`		`@0 002B22D05`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`04`	`X`	`FRE`	`@0 Porteur @5 10`
C03	`04`	`X`	`ENG`	`@0 Carrier @5 10`
C03	`04`	`X`	`SPA`	`@0 Portador @5 10`
C03	`05`	`X`	`FRE`	`@0 Phénotype @5 11`
C03	`05`	`X`	`ENG`	`@0 Phenotype @5 11`
C03	`05`	`X`	`SPA`	`@0 Fenotipo @5 11`
N21				`@1 085`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:07-0133235

Le document en format XML

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<author><name sortKey="Kress, Wolfgang" sort="Kress, Wolfgang" uniqKey="Kress W" first="Wolfgang" last="Kress">Wolfgang Kress</name>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family</title>
<author><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
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<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
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</affiliation>
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<author><name sortKey="Hagenah, Johann M" sort="Hagenah, Johann M" uniqKey="Hagenah J" first="Johann M." last="Hagenah">Johann M. Hagenah</name>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
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<country>Allemagne</country>
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<author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
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<author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
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<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<country>Allemagne</country>
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<author><name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name>
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<author><name sortKey="Schneider Gold, Christiane" sort="Schneider Gold, Christiane" uniqKey="Schneider Gold C" first="Christiane" last="Schneider-Gold">Christiane Schneider-Gold</name>
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<author><name sortKey="Kress, Wolfgang" sort="Kress, Wolfgang" uniqKey="Kress W" first="Wolfgang" last="Kress">Wolfgang Kress</name>
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<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
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<s2>Hamburg</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Carrier</term>
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<term>Nervous system diseases</term>
<term>Parkinsonism</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinsonisme</term>
<term>Mutation</term>
<term>Porteur</term>
<term>Phénotype</term>
</keywords>
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<front><div type="abstract" xml:lang="en">The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family</s1>
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<fA11 i1="01" i2="1"><s1>HILLER (Anja)</s1>
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<fA11 i1="05" i2="1"><s1>REETZ (Kathrin)</s1>
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<fA11 i1="06" i2="1"><s1>SCHNEIDER-GOLD (Christiane)</s1>
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<fA11 i1="07" i2="1"><s1>KRESS (Wolfgang)</s1>
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<fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
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<sZ>1 aut.</sZ>
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<sZ>3 aut.</sZ>
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<fA14 i1="02"><s1>Department of Neurology, Georg-August University</s1>
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<fA14 i1="04"><s1>Department of Neurology, University of Hamburg</s1>
<s2>Hamburg</s2>
<s3>DEU</s3>
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<fC01 i1="01" l="ENG"><s0>The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.</s0>
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   |texte=   Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family
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	Movement Disorders (revue)
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Movement Disorders (revue)

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

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Abstract

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