MovDisordV3, PascalFrancis, Corpus, bibRecord, 001E23

Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions

Identifieur interne : 001E23 ( PascalFrancis/Corpus ); précédent : 001E22; suivant : 001E24

Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions

Auteurs : Anthony P. Nicholas ; Kelly S. Earnst ; Daniel C. Marson

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:05-0388372

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Dégénérescence globus pallidus Hallervorden Spatz, Dystonie, Cognition, Compulsion, Imagerie RMN, Pantothenate kinase.

English descriptors

KwdEn :
- Cognition, Compulsion, Dystonia, Hallervorden Spatz disease, Nervous system diseases, Nuclear magnetic resonance imaging, Pantothenate kinase.

Abstract

We describe the case of an adult female with Hallervorden-Spatz disease (HSD), "eye-of-the-tiger" sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene. Symptomatic presentation included stuttering dysarthria, dystonic posturing, increased limb and axial muscle tone, choreoathetosis, stereotyped motor behaviors, and obsessive-compulsive symptomatology since adolescence. Extensive neuropsychological testing at 40 and 44 years of age revealed a relatively normal IQ and stable cognitive pattern overall. This case demonstrates that HSD patients who survive into middle age should not be assumed to have a progressive dementia. In such cases, atypical behavioral problems such as persistent obsessions and compulsions may be present instead.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`03`	`1`		`@1 MARSON (Daniel C.)`
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C01	`01`		`ENG`	@0 We describe the case of an adult female with Hallervorden-Spatz disease (HSD), "eye-of-the-tiger" sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene. Symptomatic presentation included stuttering dysarthria, dystonic posturing, increased limb and axial muscle tone, choreoathetosis, stereotyped motor behaviors, and obsessive-compulsive symptomatology since adolescence. Extensive neuropsychological testing at 40 and 44 years of age revealed a relatively normal IQ and stable cognitive pattern overall. This case demonstrates that HSD patients who survive into middle age should not be assumed to have a progressive dementia. In such cases, atypical behavioral problems such as persistent obsessions and compulsions may be present instead.
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C03	`07`	`X`	`FRE`	`@0 Pantothenate kinase @2 FE @5 12`
C03	`07`	`X`	`ENG`	`@0 Pantothenate kinase @2 FE @5 12`
C03	`07`	`X`	`SPA`	`@0 Pantothenate kinase @2 FE @5 12`
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C07	`04`	`X`	`FRE`	`@0 Enzyme @2 FE`
C07	`04`	`X`	`ENG`	`@0 Enzyme @2 FE`
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C07	`10`	`X`	`FRE`	`@0 Muscle strié pathologie @5 43`
C07	`10`	`X`	`ENG`	`@0 Striated muscle disease @5 43`
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N21				`@1 269`
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N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 05-0388372 INIST
ET :	Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions
AU :	NICHOLAS (Anthony P.); EARNST (Kelly S.); MARSON (Daniel C.)
AF :	Department of Neurology, University of Alabama at Birmingham/Birmingham, Alabama/Etats-Unis (1 aut., 2 aut., 3 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 7; Pp. 880-886; Bibl. 22 ref.
LA :	Anglais
EA :	We describe the case of an adult female with Hallervorden-Spatz disease (HSD), "eye-of-the-tiger" sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene. Symptomatic presentation included stuttering dysarthria, dystonic posturing, increased limb and axial muscle tone, choreoathetosis, stereotyped motor behaviors, and obsessive-compulsive symptomatology since adolescence. Extensive neuropsychological testing at 40 and 44 years of age revealed a relatively normal IQ and stable cognitive pattern overall. This case demonstrates that HSD patients who survive into middle age should not be assumed to have a progressive dementia. In such cases, atypical behavioral problems such as persistent obsessions and compulsions may be present instead.
CC :	002B17; 002B17G; 002B17A03
FD :	Système nerveux pathologie; Dégénérescence globus pallidus Hallervorden Spatz; Dystonie; Cognition; Compulsion; Imagerie RMN; Pantothenate kinase
FG :	Virose; Infection; Transferases; Enzyme; Encéphale pathologie; Maladie héréditaire; Système nerveux central pathologie; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique
ED :	Nervous system diseases; Hallervorden Spatz disease; Dystonia; Cognition; Compulsion; Nuclear magnetic resonance imaging; Pantothenate kinase
EG :	Viral disease; Infection; Transferases; Enzyme; Cerebral disorder; Genetic disease; Central nervous system disease; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder
SD :	Sistema nervioso patología; Degeneración globo pálido Hallervorden Spatz; Distonía; Cognición; Compulsión; Imaginería RMN; Pantothenate kinase
LO :	INIST-20953.354000132363110170
ID :	05-0388372

Links to Exploration step

Pascal:05-0388372

Le document en format XML

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<front><div type="abstract" xml:lang="en">We describe the case of an adult female with Hallervorden-Spatz disease (HSD), "eye-of-the-tiger" sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene. Symptomatic presentation included stuttering dysarthria, dystonic posturing, increased limb and axial muscle tone, choreoathetosis, stereotyped motor behaviors, and obsessive-compulsive symptomatology since adolescence. Extensive neuropsychological testing at 40 and 44 years of age revealed a relatively normal IQ and stable cognitive pattern overall. This case demonstrates that HSD patients who survive into middle age should not be assumed to have a progressive dementia. In such cases, atypical behavioral problems such as persistent obsessions and compulsions may be present instead.</div>
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<fC07 i1="06" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
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</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>42</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>42</s5>
</fC07>
<fC07 i1="10" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="10" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="10" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="11" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>44</s5>
</fC07>
<fC07 i1="11" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>44</s5>
</fC07>
<fC07 i1="11" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>44</s5>
</fC07>
<fN21><s1>269</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 05-0388372 INIST</NO>
<ET>Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions</ET>
<AU>NICHOLAS (Anthony P.); EARNST (Kelly S.); MARSON (Daniel C.)</AU>
<AF>Department of Neurology, University of Alabama at Birmingham/Birmingham, Alabama/Etats-Unis (1 aut., 2 aut., 3 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. 7; Pp. 880-886; Bibl. 22 ref.</SO>
<LA>Anglais</LA>
<EA>We describe the case of an adult female with Hallervorden-Spatz disease (HSD), "eye-of-the-tiger" sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene. Symptomatic presentation included stuttering dysarthria, dystonic posturing, increased limb and axial muscle tone, choreoathetosis, stereotyped motor behaviors, and obsessive-compulsive symptomatology since adolescence. Extensive neuropsychological testing at 40 and 44 years of age revealed a relatively normal IQ and stable cognitive pattern overall. This case demonstrates that HSD patients who survive into middle age should not be assumed to have a progressive dementia. In such cases, atypical behavioral problems such as persistent obsessions and compulsions may be present instead.</EA>
<CC>002B17; 002B17G; 002B17A03</CC>
<FD>Système nerveux pathologie; Dégénérescence globus pallidus Hallervorden Spatz; Dystonie; Cognition; Compulsion; Imagerie RMN; Pantothenate kinase</FD>
<FG>Virose; Infection; Transferases; Enzyme; Encéphale pathologie; Maladie héréditaire; Système nerveux central pathologie; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique</FG>
<ED>Nervous system diseases; Hallervorden Spatz disease; Dystonia; Cognition; Compulsion; Nuclear magnetic resonance imaging; Pantothenate kinase</ED>
<EG>Viral disease; Infection; Transferases; Enzyme; Cerebral disorder; Genetic disease; Central nervous system disease; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder</EG>
<SD>Sistema nervioso patología; Degeneración globo pálido Hallervorden Spatz; Distonía; Cognición; Compulsión; Imaginería RMN; Pantothenate kinase</SD>
<LO>INIST-20953.354000132363110170</LO>
<ID>05-0388372</ID>
</server>
</inist>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions

Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions

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