Atypical Hallervorden–Spatz disease with preserved cognition and obtrusive obsessions and compulsions
Identifieur interne : 003A14 ( Main/Exploration ); précédent : 003A13; suivant : 003A15Atypical Hallervorden–Spatz disease with preserved cognition and obtrusive obsessions and compulsions
Auteurs : Anthony P. Nicholas [États-Unis] ; Kelly S. Earnst [États-Unis] ; Daniel C. Marson [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-07.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Brain (pathology), Cognition, Cognition Disorders (complications), Cognition Disorders (pathology), Compulsion, Dystonia, Female, Hallervorden Spatz disease, Humans, MRI, Magnetic Resonance Imaging (methods), Nervous system diseases, Neuropsychological Tests, Nuclear magnetic resonance imaging, OCD, Obsessive-Compulsive Disorder (complications), Obsessive-Compulsive Disorder (pathology), Pantothenate Kinase-Associated Neurodegeneration (complications), Pantothenate Kinase-Associated Neurodegeneration (pathology), Pantothenate kinase, dystonia, neuropsychology, pantothenate kinase 2.
- MESH :
- complications : Cognition Disorders, Obsessive-Compulsive Disorder, Pantothenate Kinase-Associated Neurodegeneration.
- methods : Magnetic Resonance Imaging.
- pathology : Brain, Cognition Disorders, Obsessive-Compulsive Disorder, Pantothenate Kinase-Associated Neurodegeneration.
- Adult, Female, Humans, Neuropsychological Tests.
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. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20476
Affiliations:
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Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-07">2005-07</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="880">880</biblScope><biblScope unit="page" to="886">886</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">7D54E7E03B0DE0E56F1026238C78AFBCF8514679</idno><idno type="DOI">10.1002/mds.20476</idno><idno type="ArticleID">MDS20476</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Brain (pathology)</term><term>Cognition</term><term>Cognition Disorders (complications)</term><term>Cognition Disorders (pathology)</term><term>Compulsion</term><term>Dystonia</term><term>Female</term><term>Hallervorden Spatz disease</term><term>Humans</term><term>MRI</term><term>Magnetic Resonance Imaging (methods)</term><term>Nervous system diseases</term><term>Neuropsychological Tests</term><term>Nuclear magnetic resonance imaging</term><term>OCD</term><term>Obsessive-Compulsive Disorder (complications)</term><term>Obsessive-Compulsive Disorder (pathology)</term><term>Pantothenate Kinase-Associated Neurodegeneration (complications)</term><term>Pantothenate Kinase-Associated Neurodegeneration (pathology)</term><term>Pantothenate kinase</term><term>dystonia</term><term>neuropsychology</term><term>pantothenate kinase 2</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cognition Disorders</term><term>Obsessive-Compulsive Disorder</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Cognition Disorders</term><term>Obsessive-Compulsive Disorder</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Neuropsychological Tests</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Cognition</term><term>Compulsion</term><term>Dystonie</term><term>Dégénérescence globus pallidus Hallervorden Spatz</term><term>Imagerie RMN</term><term>Pantothenate kinase</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Alabama</li></region></list><tree><country name="États-Unis"><region name="Alabama"><name sortKey="Nicholas, Anthony P" sort="Nicholas, Anthony P" uniqKey="Nicholas A" first="Anthony P." last="Nicholas">Anthony P. 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