Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.
Identifieur interne : 003018 ( PubMed/Curation ); précédent : 003017; suivant : 003019Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.
Auteurs : Dominic C. Paviour [Royaume-Uni] ; Tamas Revesz ; Janice L. Holton ; Andrew Evans ; Jan-Edvin Olsson ; Andrew J. LeesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Biopsy, Diagnosis, Differential, Diagnostic Errors, Eosinophilia (pathology), Fatal Outcome, Female, Humans, Hyalin (metabolism), Intranuclear Inclusion Bodies (metabolism), Lewy Body Disease (diagnosis), Lung (pathology), Neurodegenerative Diseases (drug therapy), Neurodegenerative Diseases (metabolism), Neurons (metabolism), Rectum (pathology).
- MESH :
- diagnosis : Lewy Body Disease.
- drug therapy : Neurodegenerative Diseases.
- metabolism : Hyalin, Intranuclear Inclusion Bodies, Neurodegenerative Diseases, Neurons.
- pathology : Eosinophilia, Lung, Rectum.
- Adult, Biopsy, Diagnosis, Differential, Diagnostic Errors, Fatal Outcome, Female, Humans.
Abstract
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.
DOI: 10.1002/mds.20559
PubMed: 15966005
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003018
Links to Exploration step
pubmed:15966005Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.</title><author><name sortKey="Paviour, Dominic C" sort="Paviour, Dominic C" uniqKey="Paviour D" first="Dominic C" last="Paviour">Dominic C. Paviour</name><affiliation wicri:level="1"><nlm:affiliation>The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name></author><author><name sortKey="Evans, Andrew" sort="Evans, Andrew" uniqKey="Evans A" first="Andrew" last="Evans">Andrew Evans</name></author><author><name sortKey="Olsson, Jan Edvin" sort="Olsson, Jan Edvin" uniqKey="Olsson J" first="Jan-Edvin" last="Olsson">Jan-Edvin Olsson</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20559</idno><idno type="RBID">pubmed:15966005</idno><idno type="pmid">15966005</idno><idno type="wicri:Area/PubMed/Corpus">003018</idno><idno type="wicri:Area/PubMed/Curation">003018</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.</title><author><name sortKey="Paviour, Dominic C" sort="Paviour, Dominic C" uniqKey="Paviour D" first="Dominic C" last="Paviour">Dominic C. Paviour</name><affiliation wicri:level="1"><nlm:affiliation>The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name></author><author><name sortKey="Evans, Andrew" sort="Evans, Andrew" uniqKey="Evans A" first="Andrew" last="Evans">Andrew Evans</name></author><author><name sortKey="Olsson, Jan Edvin" sort="Olsson, Jan Edvin" uniqKey="Olsson J" first="Jan-Edvin" last="Olsson">Jan-Edvin Olsson</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</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>Biopsy</term><term>Diagnosis, Differential</term><term>Diagnostic Errors</term><term>Eosinophilia (pathology)</term><term>Fatal Outcome</term><term>Female</term><term>Humans</term><term>Hyalin (metabolism)</term><term>Intranuclear Inclusion Bodies (metabolism)</term><term>Lewy Body Disease (diagnosis)</term><term>Lung (pathology)</term><term>Neurodegenerative Diseases (drug therapy)</term><term>Neurodegenerative Diseases (metabolism)</term><term>Neurons (metabolism)</term><term>Rectum (pathology)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lewy Body Disease</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Neurodegenerative Diseases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Hyalin</term><term>Intranuclear Inclusion Bodies</term><term>Neurodegenerative Diseases</term><term>Neurons</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Eosinophilia</term><term>Lung</term><term>Rectum</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Biopsy</term><term>Diagnosis, Differential</term><term>Diagnostic Errors</term><term>Fatal Outcome</term><term>Female</term><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">15966005</PMID><DateCreated><Year>2005</Year><Month>10</Month><Day>11</Day></DateCreated><DateCompleted><Year>2006</Year><Month>02</Month><Day>16</Day></DateCompleted><DateRevised><Year>2012</Year><Month>01</Month><Day>13</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>10</Issue><PubDate><Year>2005</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.</ArticleTitle><Pagination><MedlinePgn>1345-9</MedlinePgn></Pagination><Abstract><AbstractText>Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.</AbstractText><CopyrightInformation>Copyright (c) 2005 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Paviour</LastName><ForeName>Dominic C</ForeName><Initials>DC</Initials><AffiliationInfo><Affiliation>The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Revesz</LastName><ForeName>Tamas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Holton</LastName><ForeName>Janice L</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Evans</LastName><ForeName>Andrew</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Olsson</LastName><ForeName>Jan-Edvin</ForeName><Initials>JE</Initials></Author><Author ValidYN="Y"><LastName>Lees</LastName><ForeName>Andrew J</ForeName><Initials>AJ</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>G-4029</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001706">Biopsy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003951">Diagnostic Errors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004802">Eosinophilia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017809">Fatal Outcome</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006818">Hyalin</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D045586">Intranuclear Inclusion Bodies</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020961">Lewy Body Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008168">Lung</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019636">Neurodegenerative Diseases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009474">Neurons</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012007">Rectum</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>6</Month><Day>21</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>2</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>6</Month><Day>21</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20559</ArticleId><ArticleId IdType="pubmed">15966005</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003018 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 003018 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Curation
|type= RBID
|clé= pubmed:15966005
|texte= Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:15966005" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |