MovDisordV3, PascalFrancis, Corpus, bibRecord, 001F04

Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years

Identifieur interne : 001F04 ( PascalFrancis/Corpus ); précédent : 001F03; suivant : 001F05

Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years

Auteurs : Naheed L. Khan ; Wagner Horta ; Louise Eunson ; Elizabeth Graham ; Janel O. Johnson ; SHANNON CHANG ; Mary Davis ; Andrew Singleton ; Nicholas W. Wood ; Andrew J. Lees

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:05-0262070

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkine, Porteur.

English descriptors

KwdEn :
- Carrier, Nervous system diseases, Parkin.

Abstract

We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extra-pyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.

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 20`
A06				`@2 4`
A08	`01`	`1`	`ENG`	`@1 Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years`
A11	`01`	`1`		`@1 KHAN (Naheed L.)`
A11	`02`	`1`		`@1 HORTA (Wagner)`
A11	`03`	`1`		`@1 EUNSON (Louise)`
A11	`04`	`1`		`@1 GRAHAM (Elizabeth)`
A11	`05`	`1`		`@1 JOHNSON (Janel O.)`
A11	`06`	`1`		`@1 SHANNON CHANG`
A11	`07`	`1`		`@1 DAVIS (Mary)`
A11	`08`	`1`		`@1 SINGLETON (Andrew)`
A11	`09`	`1`		`@1 WOOD (Nicholas W.)`
A11	`10`	`1`		`@1 LEES (Andrew J.)`
A14	`01`			`@1 Department of Molecular Neuroscience, Institute of Neurology @2 Queen Square, London @3 GBR @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 7 aut. @Z 9 aut. @Z 10 aut.`
A14	`02`			`@1 Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara @2 Fortaleza, Ceara @3 BRA @Z 2 aut.`
A14	`03`			`@1 Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health @2 Bethesda, Maryland @3 USA @Z 5 aut. @Z 6 aut. @Z 8 aut.`
A14	`04`			`@1 Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School @2 London @3 GBR @Z 10 aut.`
A20				`@1 479-484`
A21				`@1 2005`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000124582390130`
A44				`@0 0000 @1 © 2005 INIST-CNRS. All rights reserved.`
A45				`@0 18 ref.`
A47	`01`	`1`		`@0 05-0262070`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extra-pyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17A03`
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 Parkine @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkin @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkin @5 02`
C03	`03`	`X`	`FRE`	`@0 Porteur @5 03`
C03	`03`	`X`	`ENG`	`@0 Carrier @5 03`
C03	`03`	`X`	`SPA`	`@0 Portador @5 03`
N21				`@1 185`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 05-0262070 INIST
ET :	Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years
AU :	KHAN (Naheed L.); HORTA (Wagner); EUNSON (Louise); GRAHAM (Elizabeth); JOHNSON (Janel O.); SHANNON CHANG; DAVIS (Mary); SINGLETON (Andrew); WOOD (Nicholas W.); LEES (Andrew J.)
AF :	Department of Molecular Neuroscience, Institute of Neurology/Queen Square, London/Royaume-Uni (1 aut., 3 aut., 4 aut., 7 aut., 9 aut., 10 aut.); Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara/Fortaleza, Ceara/Brésil (2 aut.); Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health/Bethesda, Maryland/Etats-Unis (5 aut., 6 aut., 8 aut.); Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School/London/Royaume-Uni (10 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 4; Pp. 479-484; Bibl. 18 ref.
LA :	Anglais
EA :	We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extra-pyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.
CC :	002B17; 002B17G; 002B17A03
FD :	Système nerveux pathologie; Parkine; Porteur
ED :	Nervous system diseases; Parkin; Carrier
SD :	Sistema nervioso patología; Parkin; Portador
LO :	INIST-20953.354000124582390130
ID :	05-0262070

Links to Exploration step

Pascal:05-0262070

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years</title>
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<series><title level="j" type="main">Movement disorders</title>
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<front><div type="abstract" xml:lang="en">We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extra-pyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years</s1>
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<s2>Bethesda, Maryland</s2>
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<ET>Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years</ET>
<AU>KHAN (Naheed L.); HORTA (Wagner); EUNSON (Louise); GRAHAM (Elizabeth); JOHNSON (Janel O.); SHANNON CHANG; DAVIS (Mary); SINGLETON (Andrew); WOOD (Nicholas W.); LEES (Andrew J.)</AU>
<AF>Department of Molecular Neuroscience, Institute of Neurology/Queen Square, London/Royaume-Uni (1 aut., 3 aut., 4 aut., 7 aut., 9 aut., 10 aut.); Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara/Fortaleza, Ceara/Brésil (2 aut.); Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health/Bethesda, Maryland/Etats-Unis (5 aut., 6 aut., 8 aut.); Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School/London/Royaume-Uni (10 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 4; Pp. 479-484; Bibl. 18 ref.</SO>
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<EA>We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extra-pyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.</EA>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years

Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years

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