MovDisordV3, PascalFrancis, Curation, bibRecord, 001D76

Complicated Recessive Dystonia Parkinsonism Syndromes

Identifieur interne : 001D76 ( PascalFrancis/Curation ); précédent : 001D75; suivant : 001D77

Complicated Recessive Dystonia Parkinsonism Syndromes

Auteurs : Susanne A. Schneider [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; John Hardy [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0171587

Descripteurs français

Pascal (Inist)
- Dystonie, Parkinsonisme, Pathologie du système nerveux, Complication.

English descriptors

KwdEn :
- Complication, Dystonia, Nervous system diseases, Parkinsonism.

Abstract

In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene-proven cases. We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed.

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A08	`01`	`1`	`ENG`	`@1 Complicated Recessive Dystonia Parkinsonism Syndromes`
A11	`01`	`1`		`@1 SCHNEIDER (Susanne A.)`
A11	`02`	`1`		`@1 BHATIA (Kailash P.)`
A11	`03`	`1`		`@1 HARDY (John)`
A14	`01`			`@1 Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London @2 Queen Square, London @3 GBR @Z 1 aut. @Z 2 aut.`
A14	`02`			`@1 Department of Molecular Neuroscience. Institute of Neurology, UCL @2 Queen Square, London @3 GBR @Z 3 aut.`
A20				`@1 490-499`
A21				`@1 2009`
A23	`01`			`@0 ENG`
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A64	`01`	`1`		`@0 Movement disorders`
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C01	`01`		`ENG`	@0 In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene-proven cases. We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystonie @5 01`
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C03	`01`	`X`	`SPA`	`@0 Distonía @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 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 Complication @5 09`
C03	`04`	`X`	`ENG`	`@0 Complication @5 09`
C03	`04`	`X`	`SPA`	`@0 Complicación @5 09`
C07	`01`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 41`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 42`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 43`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 43`
N21				`@1 124`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:09-0171587

Le document en format XML

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<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London</s1>
<s2>Queen Square, London</s2>
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<country>Royaume-Uni</country>
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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
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<front><div type="abstract" xml:lang="en">In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene-proven cases. We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed.</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Complicated Recessive Dystonia Parkinsonism Syndromes

Complicated Recessive Dystonia Parkinsonism Syndromes

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri