MovDisordV3, PascalFrancis, Corpus, bibRecord, 001550

A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy

Identifieur interne : 001550 ( PascalFrancis/Corpus ); précédent : 001549; suivant : 001551

A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy

Auteurs : Spiridon Papapetropoulos ; Jennifer Friedman ; Craig Blackstone ; Gary I. Kleiner ; Brian C. Bowen ; Carlos Singer

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0448810

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Dystonie, Parkinsonisme, Immunodéficit, Extrapyramidal syndrome, Immunoglobulinopénie, Homme, Chronique, Traitement.

English descriptors

KwdEn :
- Agammaglobulinemia, Chronic, Dystonia, Extrapyramidal syndrome, Human, Immune deficiency, Nervous system diseases, Parkinsonism, Treatment.

Abstract

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B-cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia-Parkinson-ism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
A05				`@2 22`
A06				`@2 11`
A08	`01`	`1`	`ENG`	`@1 A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy`
A11	`01`	`1`		`@1 PAPAPETROPOULOS (Spiridon)`
A11	`02`	`1`		`@1 FRIEDMAN (Jennifer)`
A11	`03`	`1`		`@1 BLACKSTONE (Craig)`
A11	`04`	`1`		`@1 KLEINER (Gary I.)`
A11	`05`	`1`		`@1 BOWEN (Brian C.)`
A11	`06`	`1`		`@1 SINGER (Carlos)`
A14	`01`			`@1 Department of Neurology, University of Miami, Miller School of Medicine @2 Miami, Florida @3 USA @Z 1 aut. @Z 6 aut.`
A14	`02`			`@1 Department of Neurology, Massachusetts General Hospital @2 Boston, Massachusetts @3 USA @Z 2 aut.`
A14	`03`			`@1 Department of Neurology, Rady Children's Hospital @2 San Diego, California @3 USA @Z 2 aut.`
A14	`04`			`@1 Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health @2 Bethesda, Maryland @3 USA @Z 3 aut.`
A14	`05`			`@1 Department of Pediatrics University of Miami, Miller School of Medicine @2 Miami, Florida @3 USA @Z 4 aut.`
A14	`06`			`@1 Department of Radiology, University of Miami, Miller School of Medicine @2 Miami, Florida @3 USA @Z 5 aut.`
A20				`@1 1664-1666`
A21				`@1 2007`
A23	`01`			`@0 ENG`
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A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
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A61				`@0 A`
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C01	`01`		`ENG`	@0 X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B-cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia-Parkinson-ism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
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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 Immunodéficit @5 04`
C03	`04`	`X`	`ENG`	`@0 Immune deficiency @5 04`
C03	`04`	`X`	`SPA`	`@0 Inmunodeficiencia @5 04`
C03	`05`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 05`
C03	`05`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 05`
C03	`05`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 05`
C03	`06`	`X`	`FRE`	`@0 Immunoglobulinopénie @5 06`
C03	`06`	`X`	`ENG`	`@0 Agammaglobulinemia @5 06`
C03	`06`	`X`	`SPA`	`@0 Inmunoglobulinopenia @5 06`
C03	`07`	`X`	`FRE`	`@0 Homme @5 09`
C03	`07`	`X`	`ENG`	`@0 Human @5 09`
C03	`07`	`X`	`SPA`	`@0 Hombre @5 09`
C03	`08`	`X`	`FRE`	`@0 Chronique @5 10`
C03	`08`	`X`	`ENG`	`@0 Chronic @5 10`
C03	`08`	`X`	`SPA`	`@0 Crónico @5 10`
C03	`09`	`X`	`FRE`	`@0 Traitement @5 11`
C03	`09`	`X`	`ENG`	`@0 Treatment @5 11`
C03	`09`	`X`	`SPA`	`@0 Tratamiento @5 11`
C07	`01`	`X`	`FRE`	`@0 Mouvement involontaire @5 37`
C07	`01`	`X`	`ENG`	`@0 Involuntary movement @5 37`
C07	`01`	`X`	`SPA`	`@0 Movimiento involuntario @5 37`
C07	`02`	`X`	`FRE`	`@0 Muscle strié pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Striated muscle disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Músculo estriado patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
C07	`03`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`03`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
C07	`04`	`X`	`FRE`	`@0 Immunopathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Immunopathology @5 40`
C07	`04`	`X`	`SPA`	`@0 Inmunopatología @5 40`
C07	`05`	`X`	`FRE`	`@0 Encéphale pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 42`
N21				`@1 295`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0448810 INIST
ET :	A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy
AU :	PAPAPETROPOULOS (Spiridon); FRIEDMAN (Jennifer); BLACKSTONE (Craig); KLEINER (Gary I.); BOWEN (Brian C.); SINGER (Carlos)
AF :	Department of Neurology, University of Miami, Miller School of Medicine/Miami, Florida/Etats-Unis (1 aut., 6 aut.); Department of Neurology, Massachusetts General Hospital/Boston, Massachusetts/Etats-Unis (2 aut.); Department of Neurology, Rady Children's Hospital/San Diego, California/Etats-Unis (2 aut.); Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health/Bethesda, Maryland/Etats-Unis (3 aut.); Department of Pediatrics University of Miami, Miller School of Medicine/Miami, Florida/Etats-Unis (4 aut.); Department of Radiology, University of Miami, Miller School of Medicine/Miami, Florida/Etats-Unis (5 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 11; Pp. 1664-1666; Bibl. 14 ref.
LA :	Anglais
EA :	X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B-cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia-Parkinson-ism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management.
CC :	002B17; 002B17H; 002B05C02D
FD :	Système nerveux pathologie; Dystonie; Parkinsonisme; Immunodéficit; Extrapyramidal syndrome; Immunoglobulinopénie; Homme; Chronique; Traitement
FG :	Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Immunopathologie; Encéphale pathologie; Système nerveux central pathologie
ED :	Nervous system diseases; Dystonia; Parkinsonism; Immune deficiency; Extrapyramidal syndrome; Agammaglobulinemia; Human; Chronic; Treatment
EG :	Involuntary movement; Striated muscle disease; Neurological disorder; Immunopathology; Cerebral disorder; Central nervous system disease
SD :	Sistema nervioso patología; Distonía; Parkinson síndrome; Inmunodeficiencia; Extrapiramidal síndrome; Inmunoglobulinopenia; Hombre; Crónico; Tratamiento
LO :	INIST-20953.354000149744800270
ID :	07-0448810

Links to Exploration step

Pascal:07-0448810

Le document en format XML

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<front><div type="abstract" xml:lang="en">X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B-cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia-Parkinson-ism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management.</div>
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<fA14 i1="06"><s1>Department of Radiology, University of Miami, Miller School of Medicine</s1>
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<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>Immunodéficit</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Immune deficiency</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Inmunodeficiencia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Immunoglobulinopénie</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Agammaglobulinemia</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Inmunoglobulinopenia</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Homme</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Human</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Hombre</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Chronique</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Chronic</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Crónico</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Traitement</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Treatment</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Tratamiento</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Immunopathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Immunopathology</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Inmunopatología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fN21><s1>295</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 07-0448810 INIST</NO>
<ET>A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy</ET>
<AU>PAPAPETROPOULOS (Spiridon); FRIEDMAN (Jennifer); BLACKSTONE (Craig); KLEINER (Gary I.); BOWEN (Brian C.); SINGER (Carlos)</AU>
<AF>Department of Neurology, University of Miami, Miller School of Medicine/Miami, Florida/Etats-Unis (1 aut., 6 aut.); Department of Neurology, Massachusetts General Hospital/Boston, Massachusetts/Etats-Unis (2 aut.); Department of Neurology, Rady Children's Hospital/San Diego, California/Etats-Unis (2 aut.); Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health/Bethesda, Maryland/Etats-Unis (3 aut.); Department of Pediatrics University of Miami, Miller School of Medicine/Miami, Florida/Etats-Unis (4 aut.); Department of Radiology, University of Miami, Miller School of Medicine/Miami, Florida/Etats-Unis (5 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 11; Pp. 1664-1666; Bibl. 14 ref.</SO>
<LA>Anglais</LA>
<EA>X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B-cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia-Parkinson-ism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management.</EA>
<CC>002B17; 002B17H; 002B05C02D</CC>
<FD>Système nerveux pathologie; Dystonie; Parkinsonisme; Immunodéficit; Extrapyramidal syndrome; Immunoglobulinopénie; Homme; Chronique; Traitement</FD>
<FG>Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Immunopathologie; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Dystonia; Parkinsonism; Immune deficiency; Extrapyramidal syndrome; Agammaglobulinemia; Human; Chronic; Treatment</ED>
<EG>Involuntary movement; Striated muscle disease; Neurological disorder; Immunopathology; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Distonía; Parkinson síndrome; Inmunodeficiencia; Extrapiramidal síndrome; Inmunoglobulinopenia; Hombre; Crónico; Tratamiento</SD>
<LO>INIST-20953.354000149744800270</LO>
<ID>07-0448810</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy

A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy

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