MovDisordV3, PascalFrancis, Corpus, bibRecord, 000826

Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis

Identifieur interne : 000826 ( PascalFrancis/Corpus ); précédent : 000825; suivant : 000827

Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis

Auteurs : Manabu Funayama ; Hiroyuki Tomiyama ; Ruey-Meei Wu ; Kotaro Ogaki ; Hiroyo Yoshino ; Yoshikuni Mizuno ; Nobutaka Hattori

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0491628

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Dépistage, Haute résolution, Fusion, Facteur risque.

English descriptors

KwdEn :
- High resolution, Medical screening, Melting, Nervous system diseases, Parkinson disease, Risk factor.

Abstract

Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations.

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 25`
A06				`@2 14`
A08	`01`	`1`	`ENG`	`@1 Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis`
A11	`01`	`1`		`@1 FUNAYAMA (Manabu)`
A11	`02`	`1`		`@1 TOMIYAMA (Hiroyuki)`
A11	`03`	`1`		`@1 WU (Ruey-Meei)`
A11	`04`	`1`		`@1 OGAKI (Kotaro)`
A11	`05`	`1`		`@1 YOSHINO (Hiroyo)`
A11	`06`	`1`		`@1 MIZUNO (Yoshikuni)`
A11	`07`	`1`		`@1 HATTORI (Nobutaka)`
A14	`01`			`@1 Department of Neurology, Juntendo University School of Medicine @2 Tokyo @3 JPN @Z 1 aut. @Z 2 aut. @Z 4 aut. @Z 7 aut.`
A14	`02`			`@1 Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University @2 Tokyo @3 JPN @Z 1 aut. @Z 5 aut. @Z 6 aut.`
A14	`03`			`@1 Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University @2 Taipei @3 TWN @Z 3 aut.`
A20				`@1 2434-2437`
A21				`@1 2010`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000192780100240`
A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
A45				`@0 19 ref.`
A47	`01`	`1`		`@0 10-0491628`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B24D02`
C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Dépistage @5 09`
C03	`03`	`X`	`ENG`	`@0 Medical screening @5 09`
C03	`03`	`X`	`SPA`	`@0 Descubrimiento @5 09`
C03	`04`	`X`	`FRE`	`@0 Haute résolution @5 10`
C03	`04`	`X`	`ENG`	`@0 High resolution @5 10`
C03	`04`	`X`	`SPA`	`@0 Alta resolucion @5 10`
C03	`05`	`X`	`FRE`	`@0 Fusion @5 11`
C03	`05`	`X`	`ENG`	`@0 Melting @5 11`
C03	`05`	`X`	`SPA`	`@0 Fusión @5 11`
C03	`06`	`X`	`FRE`	`@0 Facteur risque @5 12`
C03	`06`	`X`	`ENG`	`@0 Risk factor @5 12`
C03	`06`	`X`	`SPA`	`@0 Factor riesgo @5 12`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 326`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 10-0491628 INIST
ET :	Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis
AU :	FUNAYAMA (Manabu); TOMIYAMA (Hiroyuki); WU (Ruey-Meei); OGAKI (Kotaro); YOSHINO (Hiroyo); MIZUNO (Yoshikuni); HATTORI (Nobutaka)
AF :	Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (1 aut., 2 aut., 4 aut., 7 aut.); Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University/Tokyo/Japon (1 aut., 5 aut., 6 aut.); Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University/Taipei/Taïwan (3 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 14; Pp. 2434-2437; Bibl. 19 ref.
LA :	Anglais
EA :	Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations.
CC :	002B17; 002B24D02
FD :	Maladie de Parkinson; Pathologie du système nerveux; Dépistage; Haute résolution; Fusion; Facteur risque
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Medical screening; High resolution; Melting; Risk factor
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Descubrimiento; Alta resolucion; Fusión; Factor riesgo
LO :	INIST-20953.354000192780100240
ID :	10-0491628

Links to Exploration step

Pascal:10-0491628

Le document en format XML

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<front><div type="abstract" xml:lang="en">Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations.</div>
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<fA11 i1="01" i2="1"><s1>FUNAYAMA (Manabu)</s1>
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<fA11 i1="03" i2="1"><s1>WU (Ruey-Meei)</s1>
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<fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1>
<s2>Tokyo</s2>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1>
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<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
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<fA14 i1="03"><s1>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University</s1>
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<fC01 i1="01" l="ENG"><s0>Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations.</s0>
</fC01>
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<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Dépistage</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Medical screening</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Descubrimiento</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Haute résolution</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>High resolution</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Alta resolucion</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Fusion</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Melting</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Fusión</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Facteur risque</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Risk factor</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Factor riesgo</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>326</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 10-0491628 INIST</NO>
<ET>Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis</ET>
<AU>FUNAYAMA (Manabu); TOMIYAMA (Hiroyuki); WU (Ruey-Meei); OGAKI (Kotaro); YOSHINO (Hiroyo); MIZUNO (Yoshikuni); HATTORI (Nobutaka)</AU>
<AF>Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (1 aut., 2 aut., 4 aut., 7 aut.); Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University/Tokyo/Japon (1 aut., 5 aut., 6 aut.); Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University/Taipei/Taïwan (3 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 14; Pp. 2434-2437; Bibl. 19 ref.</SO>
<LA>Anglais</LA>
<EA>Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations.</EA>
<CC>002B17; 002B24D02</CC>
<FD>Maladie de Parkinson; Pathologie du   système nerveux; Dépistage; Haute résolution; Fusion; Facteur risque</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Medical screening; High resolution; Melting; Risk factor</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Descubrimiento; Alta resolucion; Fusión; Factor riesgo</SD>
<LO>INIST-20953.354000192780100240</LO>
<ID>10-0491628</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis

Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis

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