Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration
Identifieur interne : 005063 ( Main/Merge ); précédent : 005062; suivant : 005064Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration
Auteurs : Cecilia Marelli [Italie] ; Sylvie Piacentini [Italie] ; Barbara Garavaglia [Italie] ; Floriano Girotti [Italie] ; Alberto Albanese [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-02.
English descriptors
- KwdEn :
- Adult, Attention (physiology), Cognition Disorders (physiopathology), Dystonia (genetics), Dystonia (pathology), Dystonia (physiopathology), Hallervorden‐Spatz syndrome, Humans, Magnetic Resonance Imaging (methods), Male, Mental Status Schedule, Mutation, Missense (genetics), Neuropsychological Tests (statistics & numerical data), Phosphotransferases (Alcohol Group Acceptor) (genetics), Problem Solving (physiology), Siblings, dystonia, neuropsychology, obsessive‐compulsive behavior.
- MESH :
- chemical , genetics : Phosphotransferases (Alcohol Group Acceptor).
- genetics : Dystonia, Mutation, Missense.
- methods : Magnetic Resonance Imaging.
- pathology : Dystonia.
- physiology : Attention, Problem Solving.
- physiopathology : Cognition Disorders, Dystonia.
- statistics & numerical data : Neuropsychological Tests.
- Adult, Humans, Male, Mental Status Schedule, Siblings.
Abstract
Adult‐onset focal dystonia was the presenting sign of pantothenate kinase‐associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral profile. Both brothers had an atypical form of PKAN. The neuropsychological assessment showed that, despite a normal Mini‐Mental State Examination, both patients presented a deficit of executive functions and of attention. The profile of cognitive impairment in these cases was typically that of a subcortical dementia. Both patients fulfilled Diagnostic and Statistical Manual for Mental Disorders criteria for obsessive–compulsive disorder; however, paranoia was associated with depression and aggressive behavior in Patient 1, whereas Patient 2 had hyperactivity, disinhibition, and euphoria. Our findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia–thalamocortical circuits. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20282
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002931
- to stream Istex, to step Curation: 002931
- to stream Istex, to step Checkpoint: 002386
- to stream PubMed, to step Corpus: 003283
- to stream PubMed, to step Curation: 003283
- to stream PubMed, to step Checkpoint: 003189
- to stream Ncbi, to step Merge: 001005
- to stream Ncbi, to step Curation: 001005
- to stream Ncbi, to step Checkpoint: 001005
Links to Exploration step
ISTEX:0BED1052DC854248B5E96E9708D8CF900FC2E768Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration</title><author><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name></author><author><name sortKey="Piacentini, Sylvie" sort="Piacentini, Sylvie" uniqKey="Piacentini S" first="Sylvie" last="Piacentini">Sylvie Piacentini</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0BED1052DC854248B5E96E9708D8CF900FC2E768</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/mds.20282</idno><idno type="url">https://api.istex.fr/document/0BED1052DC854248B5E96E9708D8CF900FC2E768/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002931</idno><idno type="wicri:Area/Istex/Curation">002931</idno><idno type="wicri:Area/Istex/Checkpoint">002386</idno><idno type="wicri:doubleKey">0885-3185:2005:Marelli C:clinical:and:neuropsychological</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:15390030</idno><idno type="wicri:Area/PubMed/Corpus">003283</idno><idno type="wicri:Area/PubMed/Curation">003283</idno><idno type="wicri:Area/PubMed/Checkpoint">003189</idno><idno type="wicri:Area/Ncbi/Merge">001005</idno><idno type="wicri:Area/Ncbi/Curation">001005</idno><idno type="wicri:Area/Ncbi/Checkpoint">001005</idno><idno type="wicri:doubleKey">0885-3185:2005:Marelli C:clinical:and:neuropsychological</idno><idno type="wicri:Area/Main/Merge">005063</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration</title><author><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Università degli Studi di Milano Bicocca, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Piacentini, Sylvie" sort="Piacentini, Sylvie" uniqKey="Piacentini S" first="Sylvie" last="Piacentini">Sylvie Piacentini</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Università Cattolica del Sacro Cuore, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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="2005-02">2005-02</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="208">208</biblScope><biblScope unit="page" to="212">212</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0BED1052DC854248B5E96E9708D8CF900FC2E768</idno><idno type="DOI">10.1002/mds.20282</idno><idno type="ArticleID">MDS20282</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Attention (physiology)</term><term>Cognition Disorders (physiopathology)</term><term>Dystonia (genetics)</term><term>Dystonia (pathology)</term><term>Dystonia (physiopathology)</term><term>Hallervorden‐Spatz syndrome</term><term>Humans</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Mental Status Schedule</term><term>Mutation, Missense (genetics)</term><term>Neuropsychological Tests (statistics & numerical data)</term><term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term><term>Problem Solving (physiology)</term><term>Siblings</term><term>dystonia</term><term>neuropsychology</term><term>obsessive‐compulsive behavior</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Mutation, Missense</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>Dystonia</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Attention</term><term>Problem Solving</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cognition Disorders</term><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Neuropsychological Tests</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term><term>Mental Status Schedule</term><term>Siblings</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Adult‐onset focal dystonia was the presenting sign of pantothenate kinase‐associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral profile. Both brothers had an atypical form of PKAN. The neuropsychological assessment showed that, despite a normal Mini‐Mental State Examination, both patients presented a deficit of executive functions and of attention. The profile of cognitive impairment in these cases was typically that of a subcortical dementia. Both patients fulfilled Diagnostic and Statistical Manual for Mental Disorders criteria for obsessive–compulsive disorder; however, paranoia was associated with depression and aggressive behavior in Patient 1, whereas Patient 2 had hyperactivity, disinhibition, and euphoria. Our findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia–thalamocortical circuits. © 2004 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.20282"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration</title><author><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name></author><author><name sortKey="Piacentini, Sylvie" sort="Piacentini, Sylvie" uniqKey="Piacentini S" first="Sylvie" last="Piacentini">Sylvie Piacentini</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0BED1052DC854248B5E96E9708D8CF900FC2E768</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/mds.20282</idno><idno type="url">https://api.istex.fr/document/0BED1052DC854248B5E96E9708D8CF900FC2E768/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002931</idno><idno type="wicri:Area/Istex/Curation">002931</idno><idno type="wicri:Area/Istex/Checkpoint">002386</idno><idno type="wicri:doubleKey">0885-3185:2005:Marelli C:clinical:and:neuropsychological</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration</title><author><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Università degli Studi di Milano Bicocca, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Piacentini, Sylvie" sort="Piacentini, Sylvie" uniqKey="Piacentini S" first="Sylvie" last="Piacentini">Sylvie Piacentini</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Università Cattolica del Sacro Cuore, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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="2005-02">2005-02</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="208">208</biblScope><biblScope unit="page" to="212">212</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0BED1052DC854248B5E96E9708D8CF900FC2E768</idno><idno type="DOI">10.1002/mds.20282</idno><idno type="ArticleID">MDS20282</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Hallervorden‐Spatz syndrome</term><term>dystonia</term><term>neuropsychology</term><term>obsessive‐compulsive behavior</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Adult‐onset focal dystonia was the presenting sign of pantothenate kinase‐associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral profile. Both brothers had an atypical form of PKAN. The neuropsychological assessment showed that, despite a normal Mini‐Mental State Examination, both patients presented a deficit of executive functions and of attention. The profile of cognitive impairment in these cases was typically that of a subcortical dementia. Both patients fulfilled Diagnostic and Statistical Manual for Mental Disorders criteria for obsessive–compulsive disorder; however, paranoia was associated with depression and aggressive behavior in Patient 1, whereas Patient 2 had hyperactivity, disinhibition, and euphoria. Our findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia–thalamocortical circuits. © 2004 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration.</title><author><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Piacentini, Sylvie" sort="Piacentini, Sylvie" uniqKey="Piacentini S" first="Sylvie" last="Piacentini">Sylvie Piacentini</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="RBID">pubmed:15390030</idno><idno type="pmid">15390030</idno><idno type="doi">10.1002/mds.20282</idno><idno type="wicri:Area/PubMed/Corpus">003283</idno><idno type="wicri:Area/PubMed/Curation">003283</idno><idno type="wicri:Area/PubMed/Checkpoint">003189</idno><idno type="wicri:Area/Ncbi/Merge">001005</idno><idno type="wicri:Area/Ncbi/Curation">001005</idno><idno type="wicri:Area/Ncbi/Checkpoint">001005</idno><idno type="wicri:doubleKey">0885-3185:2005:Marelli C:clinical:and:neuropsychological</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration.</title><author><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Piacentini, Sylvie" sort="Piacentini, Sylvie" uniqKey="Piacentini S" first="Sylvie" last="Piacentini">Sylvie Piacentini</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Attention (physiology)</term><term>Cognition Disorders (physiopathology)</term><term>Dystonia (genetics)</term><term>Dystonia (pathology)</term><term>Dystonia (physiopathology)</term><term>Humans</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Mental Status Schedule</term><term>Mutation, Missense (genetics)</term><term>Neuropsychological Tests (statistics & numerical data)</term><term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term><term>Problem Solving (physiology)</term><term>Siblings</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Mutation, Missense</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>Dystonia</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Attention</term><term>Problem Solving</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cognition Disorders</term><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Neuropsychological Tests</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term><term>Mental Status Schedule</term><term>Siblings</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Adult-onset focal dystonia was the presenting sign of pantothenate kinase-associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral profile. Both brothers had an atypical form of PKAN. The neuropsychological assessment showed that, despite a normal Mini-Mental State Examination, both patients presented a deficit of executive functions and of attention. The profile of cognitive impairment in these cases was typically that of a subcortical dementia. Both patients fulfilled Diagnostic and Statistical Manual for Mental Disorders criteria for obsessive-compulsive disorder; however, paranoia was associated with depression and aggressive behavior in Patient 1, whereas Patient 2 had hyperactivity, disinhibition, and euphoria. Our findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia-thalamocortical circuits.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005063 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 005063 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Merge
|type= RBID
|clé= ISTEX:0BED1052DC854248B5E96E9708D8CF900FC2E768
|texte= Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration
}}
| This area was generated with Dilib version V0.6.23. |  |