Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions
Identifieur interne : 005403 ( Main/Merge ); précédent : 005402; suivant : 005404Atypical 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.
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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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Earnst</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Alabama at Birmingham</s1><s2>Birmingham, Alabama</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Marson, Daniel C" sort="Marson, Daniel C" uniqKey="Marson D" first="Daniel C." last="Marson">Daniel C. Marson</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Alabama at Birmingham</s1><s2>Birmingham, Alabama</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Alabama</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">05-0388372</idno><date when="2005">2005</date><idno type="stanalyst">PASCAL 05-0388372 INIST</idno><idno type="RBID">Pascal:05-0388372</idno><idno type="wicri:Area/PascalFrancis/Corpus">001E23</idno><idno type="wicri:Area/PascalFrancis/Curation">000E98</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001F25</idno><idno type="wicri:doubleKey">0885-3185:2005:Nicholas A:atypical:hallervorden:spatz</idno><idno type="wicri:Area/Main/Merge">005403</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Atypical hallervorden-spatz disease with preserved cognition and obtrusive obsessions and compulsions</title><author><name sortKey="Nicholas, Anthony P" sort="Nicholas, Anthony P" uniqKey="Nicholas A" first="Anthony P." last="Nicholas">Anthony P. Nicholas</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Alabama at Birmingham</s1><s2>Birmingham, Alabama</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Earnst, Kelly S" sort="Earnst, Kelly S" uniqKey="Earnst K" first="Kelly S." last="Earnst">Kelly S. Earnst</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Alabama at Birmingham</s1><s2>Birmingham, Alabama</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Marson, Daniel C" sort="Marson, Daniel C" uniqKey="Marson D" first="Daniel C." last="Marson">Daniel C. Marson</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Alabama at Birmingham</s1><s2>Birmingham, Alabama</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Alabama</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005">2005</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cognition</term><term>Compulsion</term><term>Dystonia</term><term>Hallervorden Spatz disease</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Pantothenate kinase</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Dégénérescence globus pallidus Hallervorden Spatz</term><term>Dystonie</term><term>Cognition</term><term>Compulsion</term><term>Imagerie RMN</term><term>Pantothenate kinase</term></keywords></textClass></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.</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. Nicholas</name></region><name sortKey="Earnst, Kelly S" sort="Earnst, Kelly S" uniqKey="Earnst K" first="Kelly S." last="Earnst">Kelly S. Earnst</name><name sortKey="Marson, Daniel C" sort="Marson, Daniel C" uniqKey="Marson D" first="Daniel C." last="Marson">Daniel C. Marson</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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