Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions
Identifieur interne : 001E23 ( PascalFrancis/Corpus ); précédent : 001E22; suivant : 001E24Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions
Auteurs : Anthony P. Nicholas ; Kelly S. Earnst ; Daniel C. MarsonSource :
- Movement disorders [ 0885-3185 ] ; 2005.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
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Pour connaître la documentation sur le format Inist Standard.
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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 |
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Pascal:05-0388372Le document en format XML
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<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>
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<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>
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