MovDisordV3, PascalFrancis, Curation, bibRecord, 000F84

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

Identifieur interne : 000F84 ( PascalFrancis/Curation ); précédent : 000F83; suivant : 000F85

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

Auteurs : Emmanuel Roze [France] ; Eduard Paschke [Autriche] ; Nathalie Lopez [France] ; Thomas Eck [Autriche] ; Kunihiro Yoshida [Japon] ; Annie Maurel-Ollivier [France] ; Diane Doummar [France] ; Catherine Caillaud [France] ; Damien Galanaud [France] ; Thierry Billette De Villemeur [France] ; Marie Vidailhet [France] ; Anne Roubergue [France]

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:06-0001067

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Dystonie, Parkinsonisme, Gangliosidose GM1, Déficit, Galactosidase, Lysosome pathologie, Lipide.
Wicri :
- topic : Déficit.

English descriptors

KwdEn :
- Deficiency, Dystonia, GM1 gangliosidosis, Galactosidase, Lipids, Lysosomal storage disease, Nervous system diseases, Parkinsonism.

Abstract

GM1 gangliosidosis is due to β-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.

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A03		`1`		`@0 Mov. disord.`
A05				`@2 20`
A06				`@2 10`
A08	`01`	`1`	`ENG`	`@1 Dystonia and parkinsonism in GM1 type 3 gangliosidosis`
A11	`01`	`1`		`@1 ROZE (Emmanuel)`
A11	`02`	`1`		`@1 PASCHKE (Eduard)`
A11	`03`	`1`		`@1 LOPEZ (Nathalie)`
A11	`04`	`1`		`@1 ECK (Thomas)`
A11	`05`	`1`		`@1 YOSHIDA (Kunihiro)`
A11	`06`	`1`		`@1 MAUREL-OLLIVIER (Annie)`
A11	`07`	`1`		`@1 DOUMMAR (Diane)`
A11	`08`	`1`		`@1 CAILLAUD (Catherine)`
A11	`09`	`1`		`@1 GALANAUD (Damien)`
A11	`10`	`1`		`@1 BILLETTE DE VILLEMEUR (Thierry)`
A11	`11`	`1`		`@1 VIDAILHET (Marie)`
A11	`12`	`1`		`@1 ROUBERGUE (Anne)`
A14	`01`			`@1 Department of Neurology, Saint-Antoine Hospital AP-HP @2 Paris @3 FRA @Z 1 aut. @Z 11 aut. @Z 12 aut.`
A14	`02`			`@1 CNRS UMR7102 @2 Paris @3 FRA @Z 1 aut.`
A14	`03`			`@1 Department of Pediatrics, University of Graz @3 AUT @Z 2 aut. @Z 4 aut.`
A14	`04`			`@1 Department of Child Neurology, Trousseau Hospital AP- HP @2 Paris @3 FRA @Z 3 aut. @Z 6 aut. @Z 7 aut. @Z 10 aut. @Z 12 aut.`
A14	`05`			`@1 Division of Clinical and Molecular Genetics, Shinshu University Hospital @2 Matsumoto @3 JPN @Z 5 aut.`
A14	`06`			`@1 Department of Genetics and Metabolic Diseases, Cochin Hospital AP-HP @2 Paris @3 FRA @Z 8 aut.`
A14	`07`			`@1 Department of neuroradiologx, Pitié-Salpêtrière Hospital AP-HP @2 Paris @3 FRA @Z 9 aut.`
A14	`08`			`@1 INSERM U679 @2 Paris @3 FRA @Z 11 aut.`
A20				`@1 1366-1369`
A21				`@1 2005`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000135138750180`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
A45				`@0 11 ref.`
A47	`01`	`1`		`@0 06-0001067`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 GM1 gangliosidosis is due to β-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C02	`03`	`X`		`@0 002B17G`
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 Dystonie @5 02`
C03	`02`	`X`	`ENG`	`@0 Dystonia @5 02`
C03	`02`	`X`	`SPA`	`@0 Distonía @5 02`
C03	`03`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 03`
C03	`03`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 03`
C03	`03`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 03`
C03	`04`	`X`	`FRE`	`@0 Gangliosidose GM1 @5 04`
C03	`04`	`X`	`ENG`	`@0 GM1 gangliosidosis @5 04`
C03	`04`	`X`	`SPA`	`@0 Gangliosidosis GM1 @5 04`
C03	`05`	`X`	`FRE`	`@0 Déficit @5 05`
C03	`05`	`X`	`ENG`	`@0 Deficiency @5 05`
C03	`05`	`X`	`SPA`	`@0 Déficiencia @5 05`
C03	`06`	`X`	`FRE`	`@0 Galactosidase @2 FE @5 09`
C03	`06`	`X`	`ENG`	`@0 Galactosidase @2 FE @5 09`
C03	`06`	`X`	`SPA`	`@0 Galactosidase @2 FE @5 09`
C03	`07`	`X`	`FRE`	`@0 Lysosome pathologie @5 10`
C03	`07`	`X`	`ENG`	`@0 Lysosomal storage disease @5 10`
C03	`07`	`X`	`SPA`	`@0 Lisosoma patología @5 10`
C03	`08`	`X`	`FRE`	`@0 Lipide @5 78`
C03	`08`	`X`	`ENG`	`@0 Lipids @5 78`
C03	`08`	`X`	`SPA`	`@0 Lípido @5 78`
C07	`01`	`X`	`FRE`	`@0 O-Glycosidases @2 FE @6 «O»-Glycosidases`
C07	`01`	`X`	`ENG`	`@0 O-Glycosidases @2 FE @6 «O»-Glycosidases`
C07	`01`	`X`	`SPA`	`@0 O-Glycosidases @2 FE @6 «O»-Glycosidases`
C07	`02`	`X`	`FRE`	`@0 Glycosidases @2 FE`
C07	`02`	`X`	`ENG`	`@0 Glycosidases @2 FE`
C07	`02`	`X`	`SPA`	`@0 Glycosidases @2 FE`
C07	`03`	`X`	`FRE`	`@0 Hydrolases @2 FE`
C07	`03`	`X`	`ENG`	`@0 Hydrolases @2 FE`
C07	`03`	`X`	`SPA`	`@0 Hydrolases @2 FE`
C07	`04`	`X`	`FRE`	`@0 Enzyme @2 FE`
C07	`04`	`X`	`ENG`	`@0 Enzyme @2 FE`
C07	`04`	`X`	`SPA`	`@0 Enzima @2 FE`
C07	`05`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 37`
C07	`05`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`05`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`06`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`06`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`06`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`07`	`X`	`FRE`	`@0 Muscle strié pathologie @5 39`
C07	`07`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`07`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`08`	`X`	`FRE`	`@0 Trouble neurologique @5 40`
C07	`08`	`X`	`ENG`	`@0 Neurological disorder @5 40`
C07	`08`	`X`	`SPA`	`@0 Trastorno neurológico @5 40`
C07	`09`	`X`	`FRE`	`@0 Encéphale pathologie @5 41`
C07	`09`	`X`	`ENG`	`@0 Cerebral disorder @5 41`
C07	`09`	`X`	`SPA`	`@0 Encéfalo patología @5 41`
C07	`10`	`X`	`FRE`	`@0 Enzymopathie @5 42`
C07	`10`	`X`	`ENG`	`@0 Enzymopathy @5 42`
C07	`10`	`X`	`SPA`	`@0 Enzimopatía @5 42`
C07	`11`	`X`	`FRE`	`@0 Lipoïdose @5 43`
C07	`11`	`X`	`ENG`	`@0 Lipoidosis @5 43`
C07	`11`	`X`	`SPA`	`@0 Lipoidosis @5 43`
C07	`12`	`X`	`FRE`	`@0 Maladie héréditaire @5 44`
C07	`12`	`X`	`ENG`	`@0 Genetic disease @5 44`
C07	`12`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 44`
C07	`13`	`X`	`FRE`	`@0 Métabolisme pathologie @5 45`
C07	`13`	`X`	`ENG`	`@0 Metabolic diseases @5 45`
C07	`13`	`X`	`SPA`	`@0 Metabolismo patología @5 45`
C07	`14`	`X`	`FRE`	`@0 Sphingolipidose @5 46`
C07	`14`	`X`	`ENG`	`@0 Sphingolipidosis @5 46`
C07	`14`	`X`	`SPA`	`@0 Esfingolipidosis @5 46`
C07	`15`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 47`
C07	`15`	`X`	`ENG`	`@0 Central nervous system disease @5 47`
C07	`15`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 47`
N21				`@1 002`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:06-0001067

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Dystonia and parkinsonism in GM1 type 3 gangliosidosis</title>
<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
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<author><name sortKey="Lopez, Nathalie" sort="Lopez, Nathalie" uniqKey="Lopez N" first="Nathalie" last="Lopez">Nathalie Lopez</name>
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<author><name sortKey="Eck, Thomas" sort="Eck, Thomas" uniqKey="Eck T" first="Thomas" last="Eck">Thomas Eck</name>
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<author><name sortKey="Yoshida, Kunihiro" sort="Yoshida, Kunihiro" uniqKey="Yoshida K" first="Kunihiro" last="Yoshida">Kunihiro Yoshida</name>
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<author><name sortKey="Maurel Ollivier, Annie" sort="Maurel Ollivier, Annie" uniqKey="Maurel Ollivier A" first="Annie" last="Maurel-Ollivier">Annie Maurel-Ollivier</name>
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<author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
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<s2>Paris</s2>
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<author><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Genetics and Metabolic Diseases, Cochin Hospital AP-HP</s1>
<s2>Paris</s2>
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<country>France</country>
</affiliation>
</author>
<author><name sortKey="Galanaud, Damien" sort="Galanaud, Damien" uniqKey="Galanaud D" first="Damien" last="Galanaud">Damien Galanaud</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of neuroradiologx, Pitié-Salpêtrière Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Billette De Villemeur, Thierry" sort="Billette De Villemeur, Thierry" uniqKey="Billette De Villemeur T" first="Thierry" last="Billette De Villemeur">Thierry Billette De Villemeur</name>
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</affiliation>
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<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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</affiliation>
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</inist:fA14>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Saint-Antoine Hospital AP-HP</s1>
<s2>Paris</s2>
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<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Child Neurology, Trousseau Hospital AP- HP</s1>
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<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Dystonia and parkinsonism in GM1 type 3 gangliosidosis</title>
<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Saint-Antoine Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>CNRS UMR7102</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Paschke, Eduard" sort="Paschke, Eduard" uniqKey="Paschke E" first="Eduard" last="Paschke">Eduard Paschke</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, University of Graz</s1>
<s3>AUT</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Autriche</country>
</affiliation>
</author>
<author><name sortKey="Lopez, Nathalie" sort="Lopez, Nathalie" uniqKey="Lopez N" first="Nathalie" last="Lopez">Nathalie Lopez</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Child Neurology, Trousseau Hospital AP- HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Eck, Thomas" sort="Eck, Thomas" uniqKey="Eck T" first="Thomas" last="Eck">Thomas Eck</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, University of Graz</s1>
<s3>AUT</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Autriche</country>
</affiliation>
</author>
<author><name sortKey="Yoshida, Kunihiro" sort="Yoshida, Kunihiro" uniqKey="Yoshida K" first="Kunihiro" last="Yoshida">Kunihiro Yoshida</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Clinical and Molecular Genetics, Shinshu University Hospital</s1>
<s2>Matsumoto</s2>
<s3>JPN</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Japon</country>
</affiliation>
</author>
<author><name sortKey="Maurel Ollivier, Annie" sort="Maurel Ollivier, Annie" uniqKey="Maurel Ollivier A" first="Annie" last="Maurel-Ollivier">Annie Maurel-Ollivier</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Child Neurology, Trousseau Hospital AP- HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Child Neurology, Trousseau Hospital AP- HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Genetics and Metabolic Diseases, Cochin Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Galanaud, Damien" sort="Galanaud, Damien" uniqKey="Galanaud D" first="Damien" last="Galanaud">Damien Galanaud</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of neuroradiologx, Pitié-Salpêtrière Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
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<author><name sortKey="Billette De Villemeur, Thierry" sort="Billette De Villemeur, Thierry" uniqKey="Billette De Villemeur T" first="Thierry" last="Billette De Villemeur">Thierry Billette De Villemeur</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Child Neurology, Trousseau Hospital AP- HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>France</country>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Saint-Antoine Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>France</country>
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<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>INSERM U679</s1>
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<author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Saint-Antoine Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Child Neurology, Trousseau Hospital AP- HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>France</country>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2005">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Deficiency</term>
<term>Dystonia</term>
<term>GM1 gangliosidosis</term>
<term>Galactosidase</term>
<term>Lipids</term>
<term>Lysosomal storage disease</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Dystonie</term>
<term>Parkinsonisme</term>
<term>Gangliosidose GM1</term>
<term>Déficit</term>
<term>Galactosidase</term>
<term>Lysosome pathologie</term>
<term>Lipide</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">GM1 gangliosidosis is due to β-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.</div>
</front>
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<fA08 i1="01" i2="1" l="ENG"><s1>Dystonia and parkinsonism in GM1 type 3 gangliosidosis</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>ROZE (Emmanuel)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>PASCHKE (Eduard)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>LOPEZ (Nathalie)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>ECK (Thomas)</s1>
</fA11>
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</fA11>
<fA11 i1="09" i2="1"><s1>GALANAUD (Damien)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>BILLETTE DE VILLEMEUR (Thierry)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>VIDAILHET (Marie)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>ROUBERGUE (Anne)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, Saint-Antoine Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>CNRS UMR7102</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Pediatrics, University of Graz</s1>
<s3>AUT</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Child Neurology, Trousseau Hospital AP- HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Division of Clinical and Molecular Genetics, Shinshu University Hospital</s1>
<s2>Matsumoto</s2>
<s3>JPN</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Genetics and Metabolic Diseases, Cochin Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of neuroradiologx, Pitié-Salpêtrière Hospital AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>INSERM U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA20><s1>1366-1369</s1>
</fA20>
<fA21><s1>2005</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000135138750180</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>11 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0001067</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>GM1 gangliosidosis is due to β-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Distonía</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Gangliosidose GM1</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>GM1 gangliosidosis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Gangliosidosis GM1</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Déficit</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Deficiency</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Déficiencia</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Galactosidase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Galactosidase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Galactosidase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Lysosome pathologie</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Lysosomal storage disease</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Lisosoma patología</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Lipide</s0>
<s5>78</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Lipids</s0>
<s5>78</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Lípido</s0>
<s5>78</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>O-Glycosidases</s0>
<s2>FE</s2>
<s6>«O»-Glycosidases</s6>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>O-Glycosidases</s0>
<s2>FE</s2>
<s6>«O»-Glycosidases</s6>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>O-Glycosidases</s0>
<s2>FE</s2>
<s6>«O»-Glycosidases</s6>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Glycosidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Glycosidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Glycosidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
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<fC07 i1="08" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
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<fC07 i1="08" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
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<s5>41</s5>
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<s5>41</s5>
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<s5>42</s5>
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<s5>42</s5>
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<fC07 i1="10" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>42</s5>
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<fC07 i1="11" i2="X" l="FRE"><s0>Lipoïdose</s0>
<s5>43</s5>
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<fC07 i1="11" i2="X" l="ENG"><s0>Lipoidosis</s0>
<s5>43</s5>
</fC07>
<fC07 i1="11" i2="X" l="SPA"><s0>Lipoidosis</s0>
<s5>43</s5>
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<fC07 i1="12" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>44</s5>
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<s5>44</s5>
</fC07>
<fC07 i1="12" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>44</s5>
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<fC07 i1="13" i2="X" l="FRE"><s0>Métabolisme pathologie</s0>
<s5>45</s5>
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<s5>45</s5>
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<s5>45</s5>
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<s5>46</s5>
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<s5>46</s5>
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<s5>46</s5>
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<s5>47</s5>
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<s5>47</s5>
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<fC07 i1="15" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>47</s5>
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<fN21><s1>002</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

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Descripteurs français

English descriptors

Abstract

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