MovDisordV3, PascalFrancis, Corpus, bibRecord, 001D26

Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies

Identifieur interne : 001D26 ( PascalFrancis/Corpus ); précédent : 001D25; suivant : 001D27

Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies

Auteurs : Dominic C. Paviour ; Tarn Revesz ; Janice L. Helton ; Andrew Evans ; Jan-Edvin Olsson ; Ardrew J. Lees

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:06-0001794

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme, Inclusion, Etude cas, Corps Lewy, Diagnostic différentiel, Biopsie, Segawa maladie.

English descriptors

KwdEn :
- Biopsy, Case study, Differential diagnostic, Inclusion, Lewy body, Nervous system diseases, Parkinsonism, Segawa disease.

Abstract

Neurons I intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.

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 20`
A06				`@2 10`
A08	`01`	`1`	`ENG`	`@1 Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies`
A11	`01`	`1`		`@1 PAVIOUR (Dominic C.)`
A11	`02`	`1`		`@1 REVESZ (Tarn)`
A11	`03`	`1`		`@1 HELTON (Janice L.)`
A11	`04`	`1`		`@1 EVANS (Andrew)`
A11	`05`	`1`		`@1 OLSSON (Jan-Edvin)`
A11	`06`	`1`		`@1 LEES (Ardrew J.)`
A14	`01`			`@1 The Sara Koe Progressive Supranuelear Palsy Research Centre, Institute of Neurology, University College London @2 London @3 GBR @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 6 aut.`
A14	`02`			`@1 Queen Square Brain Bank, Department of Molecular Neuroscience, Institute of Neurology UCL, Queen Square @2 London @3 GBR @Z 2 aut. @Z 3 aut.`
A14	`03`			`@1 Department of Neurology, Faculty of Health Sciences. University of Likoping @3 SWE @Z 5 aut.`
A14	`04`			`@1 The Reta Lila Weston Institute of Neurological Studies, Windeyer Building @2 London @3 GBR @Z 6 aut.`
A20				`@1 1345-1349`
A21				`@1 2005`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000135138750130`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
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A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
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C01	`01`		`ENG`	@0 Neurons I intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
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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 Inclusion @5 09`
C03	`03`	`X`	`ENG`	`@0 Inclusion @5 09`
C03	`03`	`X`	`SPA`	`@0 Inclusión @5 09`
C03	`04`	`X`	`FRE`	`@0 Etude cas @5 10`
C03	`04`	`X`	`ENG`	`@0 Case study @5 10`
C03	`04`	`X`	`SPA`	`@0 Estudio caso @5 10`
C03	`05`	`X`	`FRE`	`@0 Corps Lewy @5 11`
C03	`05`	`X`	`ENG`	`@0 Lewy body @5 11`
C03	`05`	`X`	`SPA`	`@0 Cuerpo Lewy @5 11`
C03	`06`	`X`	`FRE`	`@0 Diagnostic différentiel @5 12`
C03	`06`	`X`	`ENG`	`@0 Differential diagnostic @5 12`
C03	`06`	`X`	`SPA`	`@0 Diagnóstico diferencial @5 12`
C03	`07`	`X`	`FRE`	`@0 Biopsie @5 13`
C03	`07`	`X`	`ENG`	`@0 Biopsy @5 13`
C03	`07`	`X`	`SPA`	`@0 Biopsia @5 13`
C03	`08`	`X`	`FRE`	`@0 Segawa maladie @4 CD @5 96`
C03	`08`	`X`	`ENG`	`@0 Segawa disease @4 CD @5 96`
C03	`08`	`X`	`SPA`	`@0 Segawa enfermedad @4 CD @5 96`
C07	`01`	`X`	`FRE`	`@0 Maladie héréditaire @5 37`
C07	`01`	`X`	`ENG`	`@0 Genetic disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 37`
N21				`@1 002`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 06-0001794 INIST
ET :	Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies
AU :	PAVIOUR (Dominic C.); REVESZ (Tarn); HELTON (Janice L.); EVANS (Andrew); OLSSON (Jan-Edvin); LEES (Ardrew J.)
AF :	The Sara Koe Progressive Supranuelear Palsy Research Centre, Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 4 aut., 6 aut.); Queen Square Brain Bank, Department of Molecular Neuroscience, Institute of Neurology UCL, Queen Square/London/Royaume-Uni (2 aut., 3 aut.); Department of Neurology, Faculty of Health Sciences. University of Likoping/Suède (5 aut.); The Reta Lila Weston Institute of Neurological Studies, Windeyer Building/London/Royaume-Uni (6 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 10; Pp. 1345-1349; Bibl. 48 ref.
LA :	Anglais
EA :	Neurons I intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.
CC :	002B17; 002B17G; 002B17H
FD :	Système nerveux pathologie; Parkinsonisme; Inclusion; Etude cas; Corps Lewy; Diagnostic différentiel; Biopsie; Segawa maladie
FG :	Maladie héréditaire
ED :	Nervous system diseases; Parkinsonism; Inclusion; Case study; Lewy body; Differential diagnostic; Biopsy; Segawa disease
EG :	Genetic disease
SD :	Sistema nervioso patología; Parkinson síndrome; Inclusión; Estudio caso; Cuerpo Lewy; Diagnóstico diferencial; Biopsia; Segawa enfermedad
LO :	INIST-20953.354000135138750130
ID :	06-0001794

Links to Exploration step

Pascal:06-0001794

Le document en format XML

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<front><div type="abstract" xml:lang="en">Neurons I intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.</div>
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<s5>02</s5>
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<fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Inclusion</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Inclusion</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Inclusión</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Etude cas</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Case study</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Corps Lewy</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Lewy body</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Cuerpo Lewy</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Diagnostic différentiel</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Differential diagnostic</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Diagnóstico diferencial</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Biopsie</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Biopsy</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Biopsia</s0>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Segawa maladie</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Segawa disease</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Segawa enfermedad</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>37</s5>
</fC07>
<fN21><s1>002</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 06-0001794 INIST</NO>
<ET>Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies</ET>
<AU>PAVIOUR (Dominic C.); REVESZ (Tarn); HELTON (Janice L.); EVANS (Andrew); OLSSON (Jan-Edvin); LEES (Ardrew J.)</AU>
<AF>The Sara Koe Progressive Supranuelear Palsy Research Centre, Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 4 aut., 6 aut.); Queen Square Brain Bank, Department of Molecular Neuroscience, Institute of Neurology UCL, Queen Square/London/Royaume-Uni (2 aut., 3 aut.); Department of Neurology, Faculty of Health Sciences. University of Likoping/Suède (5 aut.); The Reta Lila Weston Institute of Neurological Studies, Windeyer Building/London/Royaume-Uni (6 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 10; Pp. 1345-1349; Bibl. 48 ref.</SO>
<LA>Anglais</LA>
<EA>Neurons I intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.</EA>
<CC>002B17; 002B17G; 002B17H</CC>
<FD>Système nerveux pathologie; Parkinsonisme; Inclusion; Etude cas; Corps Lewy; Diagnostic différentiel; Biopsie; Segawa maladie</FD>
<FG>Maladie héréditaire</FG>
<ED>Nervous system diseases; Parkinsonism; Inclusion; Case study; Lewy body; Differential diagnostic; Biopsy; Segawa disease</ED>
<EG>Genetic disease</EG>
<SD>Sistema nervioso patología; Parkinson síndrome; Inclusión; Estudio caso; Cuerpo Lewy; Diagnóstico diferencial; Biopsia; Segawa enfermedad</SD>
<LO>INIST-20953.354000135138750130</LO>
<ID>06-0001794</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies

Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies

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