MovDisordV3, PascalFrancis, Corpus, bibRecord, 000769

Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication

Identifieur interne : 000769 ( PascalFrancis/Corpus ); précédent : 000768; suivant : 000770

Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication

Auteurs : Takeshi Sekine ; Hajime Kagaya ; Manabu Funayama ; YUANZHE LI ; Hiroyo Yoshino ; Hiroyuki Tomiyama ; Nobutaka Hattori

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:11-0065130

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Maladie de Parkinson, Pathologie du système nerveux, Duplication, Maladie familiale.

English descriptors

KwdEn :
- Duplication, Familial disease, Nervous system diseases, Parkinson disease, Parkinsonism.

Abstract

Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated region including SNCA. This allele did not share any common haplotypes with those of previously reported Japanese families with SNCA duplication. Clinical analysis indicated early onset, rapidly progressive parkinsonism with mild levodopa response. Further studies are needed to clarify the gene dose effect of SNCA.

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 16`
A08	`01`	`1`	`ENG`	`@1 Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication`
A11	`01`	`1`		`@1 SEKINE (Takeshi)`
A11	`02`	`1`		`@1 KAGAYA (Hajime)`
A11	`03`	`1`		`@1 FUNAYAMA (Manabu)`
A11	`04`	`1`		`@1 YUANZHE LI`
A11	`05`	`1`		`@1 YOSHINO (Hiroyo)`
A11	`06`	`1`		`@1 TOMIYAMA (Hiroyuki)`
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 3 aut. @Z 6 aut. @Z 7 aut.`
A14	`02`			`@1 Department of Neurology, Nakadori General Hospital @2 Akita @3 JPN @Z 2 aut.`
A14	`03`			`@1 Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University @2 Tokyo @3 JPN @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 7 aut.`
A20				`@1 2871-2875`
A21				`@1 2010`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000193512620250`
A44				`@0 0000 @1 © 2011 INIST-CNRS. All rights reserved.`
A45				`@0 10 ref.`
A47	`01`	`1`		`@0 11-0065130`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated region including SNCA. This allele did not share any common haplotypes with those of previously reported Japanese families with SNCA duplication. Clinical analysis indicated early onset, rapidly progressive parkinsonism with mild levodopa response. Further studies are needed to clarify the gene dose effect of SNCA.
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 Duplication @5 09`
C03	`04`	`X`	`ENG`	`@0 Duplication @5 09`
C03	`04`	`X`	`SPA`	`@0 Duplicación @5 09`
C03	`05`	`X`	`FRE`	`@0 Maladie familiale @2 NM @5 10`
C03	`05`	`X`	`ENG`	`@0 Familial disease @2 NM @5 10`
C03	`05`	`X`	`SPA`	`@0 Enfermedad familiar @2 NM @5 10`
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				`@1 045`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 11-0065130 INIST
ET :	Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication
AU :	SEKINE (Takeshi); KAGAYA (Hajime); FUNAYAMA (Manabu); YUANZHE LI; YOSHINO (Hiroyo); TOMIYAMA (Hiroyuki); HATTORI (Nobutaka)
AF :	Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (1 aut., 3 aut., 6 aut., 7 aut.); Department of Neurology, Nakadori General Hospital/Akita/Japon (2 aut.); Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University/Tokyo/Japon (3 aut., 4 aut., 5 aut., 7 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 16; Pp. 2871-2875; Bibl. 10 ref.
LA :	Anglais
EA :	Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated region including SNCA. This allele did not share any common haplotypes with those of previously reported Japanese families with SNCA duplication. Clinical analysis indicated early onset, rapidly progressive parkinsonism with mild levodopa response. Further studies are needed to clarify the gene dose effect of SNCA.
CC :	002B17; 002B17G
FD :	Parkinsonisme; Maladie de Parkinson; Pathologie du système nerveux; Duplication; Maladie familiale
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinsonism; Parkinson disease; Nervous system diseases; Duplication; Familial disease
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Duplicación; Enfermedad familiar
LO :	INIST-20953.354000193512620250
ID :	11-0065130

Links to Exploration step

Pascal:11-0065130

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication</title>
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<front><div type="abstract" xml:lang="en">Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated region including SNCA. This allele did not share any common haplotypes with those of previously reported Japanese families with SNCA duplication. Clinical analysis indicated early onset, rapidly progressive parkinsonism with mild levodopa response. Further studies are needed to clarify the gene dose effect of SNCA.</div>
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<fA14 i1="02"><s1>Department of Neurology, Nakadori General Hospital</s1>
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<fC01 i1="01" l="ENG"><s0>Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated region including SNCA. This allele did not share any common haplotypes with those of previously reported Japanese families with SNCA duplication. Clinical analysis indicated early onset, rapidly progressive parkinsonism with mild levodopa response. Further studies are needed to clarify the gene dose effect of SNCA.</s0>
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<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>Duplication</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Duplication</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Duplicación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Maladie familiale</s0>
<s2>NM</s2>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Familial disease</s0>
<s2>NM</s2>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Enfermedad familiar</s0>
<s2>NM</s2>
<s5>10</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>045</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 11-0065130 INIST</NO>
<ET>Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication</ET>
<AU>SEKINE (Takeshi); KAGAYA (Hajime); FUNAYAMA (Manabu); YUANZHE LI; YOSHINO (Hiroyo); TOMIYAMA (Hiroyuki); HATTORI (Nobutaka)</AU>
<AF>Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (1 aut., 3 aut., 6 aut., 7 aut.); Department of Neurology, Nakadori General Hospital/Akita/Japon (2 aut.); Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University/Tokyo/Japon (3 aut., 4 aut., 5 aut., 7 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. 16; Pp. 2871-2875; Bibl. 10 ref.</SO>
<LA>Anglais</LA>
<EA>Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated region including SNCA. This allele did not share any common haplotypes with those of previously reported Japanese families with SNCA duplication. Clinical analysis indicated early onset, rapidly progressive parkinsonism with mild levodopa response. Further studies are needed to clarify the gene dose effect of SNCA.</EA>
<CC>002B17; 002B17G</CC>
<FD>Parkinsonisme; Maladie de Parkinson; Pathologie du   système nerveux; Duplication; Maladie familiale</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinsonism; Parkinson disease; Nervous system diseases; Duplication; Familial disease</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Duplicación; Enfermedad familiar</SD>
<LO>INIST-20953.354000193512620250</LO>
<ID>11-0065130</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication

Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication

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