Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia.
Identifieur interne : 002C61 ( Ncbi/Merge ); précédent : 002C60; suivant : 002C62Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia.
Auteurs : Szu-Chia Lai [Taïwan] ; Shih-Ming Jung ; Padraic Grattan-Smith ; Ella Sugo ; Yen-Wen Lin ; Rou-Shayn Chen ; Chiung-Chu Chen ; Yah-Huei Wu-Chou ; Anthony E. Lang ; Chin-Song LuSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
Descripteurs français
- Wicri :
- geographic : Taïwan.
English descriptors
- KwdEn :
- Adolescent, Antiparkinson Agents (adverse effects), Child, Dyskinesia, Drug-Induced (etiology), Dyskinesia, Drug-Induced (pathology), Female, Humans, Intranuclear Inclusion Bodies (metabolism), Intranuclear Inclusion Bodies (pathology), Levodopa (adverse effects), Male, Neurons (metabolism), Neurons (pathology), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (pathology), Peptides (metabolism), Taiwan, Ubiquitin (metabolism).
- MESH :
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- chemical , metabolism : Ubiquitin.
- geographic : Taiwan.
- drug therapy : Parkinsonian Disorders.
- etiology : Dyskinesia, Drug-Induced.
- metabolism : Intranuclear Inclusion Bodies, Neurons, Peptides.
- pathology : Dyskinesia, Drug-Induced, Intranuclear Inclusion Bodies, Neurons, Parkinsonian Disorders.
- Adolescent, Child, Female, Humans, Male.
Abstract
There are very few conditions that present with dopa-responsive juvenile parkinsonism. We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa-induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze-evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis.
DOI: 10.1002/mds.22876
PubMed: 20629123
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Lang</name></author><author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Antiparkinson Agents (adverse effects)</term><term>Child</term><term>Dyskinesia, Drug-Induced (etiology)</term><term>Dyskinesia, Drug-Induced (pathology)</term><term>Female</term><term>Humans</term><term>Intranuclear Inclusion Bodies (metabolism)</term><term>Intranuclear Inclusion Bodies (pathology)</term><term>Levodopa (adverse effects)</term><term>Male</term><term>Neurons (metabolism)</term><term>Neurons (pathology)</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (pathology)</term><term>Peptides (metabolism)</term><term>Taiwan</term><term>Ubiquitin (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Ubiquitin</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Taiwan</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dyskinesia, Drug-Induced</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Intranuclear Inclusion Bodies</term><term>Neurons</term><term>Peptides</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dyskinesia, Drug-Induced</term><term>Intranuclear Inclusion Bodies</term><term>Neurons</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Taïwan</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">There are very few conditions that present with dopa-responsive juvenile parkinsonism. We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa-induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze-evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20629123</PMID><DateCreated><Year>2010</Year><Month>07</Month><Day>26</Day></DateCreated><DateCompleted><Year>2010</Year><Month>11</Month><Day>04</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>9</Issue><PubDate><Year>2010</Year><Month>Jul</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze-evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lai</LastName><ForeName>Szu-Chia</ForeName><Initials>SC</Initials><AffiliationInfo><Affiliation>Neuroscience Research Center, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jung</LastName><ForeName>Shih-Ming</ForeName><Initials>SM</Initials></Author><Author ValidYN="Y"><LastName>Grattan-Smith</LastName><ForeName>Padraic</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Sugo</LastName><ForeName>Ella</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Lin</LastName><ForeName>Yen-Wen</ForeName><Initials>YW</Initials></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>Rou-Shayn</ForeName><Initials>RS</Initials></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>Chiung-Chu</ForeName><Initials>CC</Initials></Author><Author ValidYN="Y"><LastName>Wu-Chou</LastName><ForeName>Yah-Huei</ForeName><Initials>YH</Initials></Author><Author ValidYN="Y"><LastName>Lang</LastName><ForeName>Anthony E</ForeName><Initials>AE</Initials></Author><Author ValidYN="Y"><LastName>Lu</LastName><ForeName>Chin-Song</ForeName><Initials>CS</Initials></Author></AuthorList><Language>eng</Language><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 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UI="Q000009">adverse effects</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009474">Neurons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010455">Peptides</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D013624">Taiwan</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D025801">Ubiquitin</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>7</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>7</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>11</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22876</ArticleId><ArticleId IdType="pubmed">20629123</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Taïwan</li></country></list><tree><noCountry><name sortKey="Chen, Chiung Chu" sort="Chen, Chiung Chu" uniqKey="Chen C" first="Chiung-Chu" last="Chen">Chiung-Chu Chen</name><name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name><name sortKey="Grattan Smith, Padraic" sort="Grattan Smith, Padraic" uniqKey="Grattan Smith P" first="Padraic" last="Grattan-Smith">Padraic Grattan-Smith</name><name sortKey="Jung, Shih Ming" sort="Jung, Shih Ming" uniqKey="Jung S" first="Shih-Ming" last="Jung">Shih-Ming Jung</name><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name><name sortKey="Lin, Yen Wen" sort="Lin, Yen Wen" uniqKey="Lin Y" first="Yen-Wen" last="Lin">Yen-Wen Lin</name><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name><name sortKey="Sugo, Ella" sort="Sugo, Ella" uniqKey="Sugo E" first="Ella" last="Sugo">Ella Sugo</name><name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu-Chou">Yah-Huei Wu-Chou</name></noCountry><country name="Taïwan"><noRegion><name sortKey="Lai, Szu Chia" sort="Lai, Szu Chia" uniqKey="Lai S" first="Szu-Chia" last="Lai">Szu-Chia Lai</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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