Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literature
Identifieur interne : 006652 ( Main/Merge ); précédent : 006651; suivant : 006653Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literature
Auteurs : Ruth H. Walker [États-Unis] ; Dushyant P. Purohit [États-Unis] ; Paul F. Good [États-Unis] ; Daniel P. Perl [États-Unis] ; Mitchell F. Brin [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2002.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Adulte.
English descriptors
- KwdEn :
Abstract
Putaminal lesions of a variety of etiologies may cause secondary dystonia. We report on a case of primary putaminal degeneration as a cause of severe childhood-onset generalized dystonia and review the literature of the pathology of dystonia. A 44-year-old patient with severe generalized childhood-onset dystonia and macrocephaly underwent neurological evaluation and neuropathological examination. Neurological examination was normal apart from dystonia and signs referable to prior cryothalamotomy. Workup for metabolic and genetic causes of dystonia was negative. Neuroimaging showed severe bilateral putaminal degeneration, which subsequently correlated with the neuropathological findings of gliosis, spongiform degeneration, and cavitation. The substantia nigra pars compacta contained a normal number of neurons but decreased tyrosine hydroxylase immunoreactivity. There were no histopathological markers of other metabolic or degenerative diseases.
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 002730
- to stream PascalFrancis, to step Curation: 000591
- to stream PascalFrancis, to step Checkpoint: 002613
Links to Exploration step
Pascal:02-0369773Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literature</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Bronx Veterans Affairs Medical Center</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Purohit, Dushyant P" sort="Purohit, Dushyant P" uniqKey="Purohit D" first="Dushyant P." last="Purohit">Dushyant P. Purohit</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pathology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Good, Paul F" sort="Good, Paul F" uniqKey="Good P" first="Paul F." last="Good">Paul F. Good</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pathology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Perl, Daniel P" sort="Perl, Daniel P" uniqKey="Perl D" first="Daniel P." last="Perl">Daniel P. Perl</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pathology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">02-0369773</idno><date when="2002">2002</date><idno type="stanalyst">PASCAL 02-0369773 INIST</idno><idno type="RBID">Pascal:02-0369773</idno><idno type="wicri:Area/PascalFrancis/Corpus">002730</idno><idno type="wicri:Area/PascalFrancis/Curation">000591</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002613</idno><idno type="wicri:doubleKey">0885-3185:2002:Walker R:severe:generalized:dystonia</idno><idno type="wicri:Area/Main/Merge">006652</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literature</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Bronx Veterans Affairs Medical Center</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Purohit, Dushyant P" sort="Purohit, Dushyant P" uniqKey="Purohit D" first="Dushyant P." last="Purohit">Dushyant P. Purohit</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pathology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Good, Paul F" sort="Good, Paul F" uniqKey="Good P" first="Paul F." last="Good">Paul F. Good</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pathology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Perl, Daniel P" sort="Perl, Daniel P" uniqKey="Perl D" first="Daniel P." last="Perl">Daniel P. Perl</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pathology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</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="2002">2002</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>Adult</term><term>Bibliographic review</term><term>Case study</term><term>Complication</term><term>Degeneration</term><term>Dystonia</term><term>Generalized</term><term>Male</term><term>Pathology</term><term>Putamen</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dégénérescence</term><term>Putamen</term><term>Dystonie</term><term>Généralisé</term><term>Revue bibliographique</term><term>Etude cas</term><term>Complication</term><term>Anatomopathologie</term><term>Adulte</term><term>Mâle</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Putaminal lesions of a variety of etiologies may cause secondary dystonia. We report on a case of primary putaminal degeneration as a cause of severe childhood-onset generalized dystonia and review the literature of the pathology of dystonia. A 44-year-old patient with severe generalized childhood-onset dystonia and macrocephaly underwent neurological evaluation and neuropathological examination. Neurological examination was normal apart from dystonia and signs referable to prior cryothalamotomy. Workup for metabolic and genetic causes of dystonia was negative. Neuroimaging showed severe bilateral putaminal degeneration, which subsequently correlated with the neuropathological findings of gliosis, spongiform degeneration, and cavitation. The substantia nigra pars compacta contained a normal number of neurons but decreased tyrosine hydroxylase immunoreactivity. There were no histopathological markers of other metabolic or degenerative diseases.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name></region><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name><name sortKey="Good, Paul F" sort="Good, Paul F" uniqKey="Good P" first="Paul F." last="Good">Paul F. Good</name><name sortKey="Perl, Daniel P" sort="Perl, Daniel P" uniqKey="Perl D" first="Daniel P." last="Perl">Daniel P. Perl</name><name sortKey="Purohit, Dushyant P" sort="Purohit, Dushyant P" uniqKey="Purohit D" first="Dushyant P." last="Purohit">Dushyant P. Purohit</name><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name></country></tree></affiliations></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 006652 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 006652 | 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= Pascal:02-0369773
|texte= Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literature
}}
| This area was generated with Dilib version V0.6.23. |  |