Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: appearance in two sets of dizygotic twins in the same family.
Identifieur interne : 004F76 ( Ncbi/Merge ); précédent : 004F75; suivant : 004F77Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: appearance in two sets of dizygotic twins in the same family.
Auteurs : S E Johnson [Norvège] ; A. Dahl ; O. SjaastadSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1998.
English descriptors
- KwdEn :
- Adult, Chorea (diagnosis), Chorea (genetics), Deglutition Disorders (diagnosis), Deglutition Disorders (genetics), Diseases in Twins (genetics), Dysarthria (diagnosis), Dysarthria (genetics), Female, Follow-Up Studies, Humans, Male, Muscle Rigidity (diagnosis), Muscle Rigidity (genetics), Paralysis (diagnosis), Paralysis (genetics), Parkinson Disease, Secondary (diagnosis), Parkinson Disease, Secondary (genetics), Pedigree, Twins, Dizygotic (genetics).
- MESH :
- diagnosis : Chorea, Deglutition Disorders, Dysarthria, Muscle Rigidity, Paralysis, Parkinson Disease, Secondary.
- genetics : Chorea, Deglutition Disorders, Diseases in Twins, Dysarthria, Muscle Rigidity, Paralysis, Parkinson Disease, Secondary, Twins, Dizygotic.
- Adult, Female, Follow-Up Studies, Humans, Male, Pedigree.
Abstract
In a family with two sets of dizygotic twins, three, possibly all four, siblings were affected by the same disorder. The parents were unrelated and the illness seemed limited to one generation. Onset was in the early to mid-20s with tics and choreiform movements, dysarthria, and dysphagia. Two twins had epilepsy. There was a marked dyscoordination of bulbar musculature reminiscent of pseudobulbar paresis. Involuntary movements were prominent during the first years, but then disappeared and were replaced by an akinetic-rigid parkinsonian appearance in the late stage. The intellect remained largely intact. Tendon reflexes were reduced. Varying degrees of peripheral nerve changes were seen. Two patients died after 22-24 years from causes indirectly related to the main illness. Marked degenerative changes were found in the caudate nucleus and putamen. Acanthocytes in significant numbers could not be detected in peripheral blood. Lipoproteinelectrophoresis was normal. Creatine kinase levels were moderately raised in one patient, normal in the others. Although certain clinical resemblances exist with neuroacanthocytosis, the exact nosologic status of the disorder has not been determined.
DOI: 10.1002/mds.870130331
PubMed: 9613754
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Dahl</name></author><author><name sortKey="Sjaastad, O" sort="Sjaastad, O" uniqKey="Sjaastad O" first="O" last="Sjaastad">O. Sjaastad</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="1998" type="published">1998</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>Deglutition Disorders (diagnosis)</term><term>Deglutition Disorders (genetics)</term><term>Diseases in Twins (genetics)</term><term>Dysarthria (diagnosis)</term><term>Dysarthria (genetics)</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Male</term><term>Muscle Rigidity (diagnosis)</term><term>Muscle Rigidity (genetics)</term><term>Paralysis (diagnosis)</term><term>Paralysis (genetics)</term><term>Parkinson Disease, Secondary (diagnosis)</term><term>Parkinson Disease, Secondary (genetics)</term><term>Pedigree</term><term>Twins, Dizygotic (genetics)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term><term>Deglutition Disorders</term><term>Dysarthria</term><term>Muscle Rigidity</term><term>Paralysis</term><term>Parkinson Disease, Secondary</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Deglutition Disorders</term><term>Diseases in Twins</term><term>Dysarthria</term><term>Muscle Rigidity</term><term>Paralysis</term><term>Parkinson Disease, Secondary</term><term>Twins, Dizygotic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In a family with two sets of dizygotic twins, three, possibly all four, siblings were affected by the same disorder. The parents were unrelated and the illness seemed limited to one generation. Onset was in the early to mid-20s with tics and choreiform movements, dysarthria, and dysphagia. Two twins had epilepsy. There was a marked dyscoordination of bulbar musculature reminiscent of pseudobulbar paresis. Involuntary movements were prominent during the first years, but then disappeared and were replaced by an akinetic-rigid parkinsonian appearance in the late stage. The intellect remained largely intact. Tendon reflexes were reduced. Varying degrees of peripheral nerve changes were seen. Two patients died after 22-24 years from causes indirectly related to the main illness. Marked degenerative changes were found in the caudate nucleus and putamen. Acanthocytes in significant numbers could not be detected in peripheral blood. Lipoproteinelectrophoresis was normal. Creatine kinase levels were moderately raised in one patient, normal in the others. Although certain clinical resemblances exist with neuroacanthocytosis, the exact nosologic status of the disorder has not been determined.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">9613754</PMID><DateCreated><Year>1998</Year><Month>08</Month><Day>10</Day></DateCreated><DateCompleted><Year>1998</Year><Month>08</Month><Day>10</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>13</Volume><Issue>3</Issue><PubDate><Year>1998</Year><Month>May</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: appearance in two sets of dizygotic twins in the same family.</ArticleTitle><Pagination><MedlinePgn>556-62</MedlinePgn></Pagination><Abstract><AbstractText>In a family with two sets of dizygotic twins, three, possibly all four, siblings were affected by the same disorder. The parents were unrelated and the illness seemed limited to one generation. Onset was in the early to mid-20s with tics and choreiform movements, dysarthria, and dysphagia. Two twins had epilepsy. There was a marked dyscoordination of bulbar musculature reminiscent of pseudobulbar paresis. Involuntary movements were prominent during the first years, but then disappeared and were replaced by an akinetic-rigid parkinsonian appearance in the late stage. The intellect remained largely intact. Tendon reflexes were reduced. Varying degrees of peripheral nerve changes were seen. Two patients died after 22-24 years from causes indirectly related to the main illness. Marked degenerative changes were found in the caudate nucleus and putamen. Acanthocytes in significant numbers could not be detected in peripheral blood. Lipoproteinelectrophoresis was normal. Creatine kinase levels were moderately raised in one patient, normal in the others. Although certain clinical resemblances exist with neuroacanthocytosis, the exact nosologic status of the disorder has not been determined.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Johnson</LastName><ForeName>S E</ForeName><Initials>SE</Initials><AffiliationInfo><Affiliation>Department of Neurology, Akershus sentralsykehus, Nordbyhagen, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dahl</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Sjaastad</LastName><ForeName>O</ForeName><Initials>O</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D018486">Twin Study</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="D002819">Chorea</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003680">Deglutition Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004200">Diseases in Twins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004401">Dysarthria</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005500">Follow-Up Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009127">Muscle Rigidity</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010243">Paralysis</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010302">Parkinson Disease, Secondary</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014429">Twins, Dizygotic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1998</Year><Month>6</Month><Day>5</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1998</Year><Month>6</Month><Day>5</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1998</Year><Month>6</Month><Day>5</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">9613754</ArticleId><ArticleId IdType="doi">10.1002/mds.870130331</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Norvège</li></country></list><tree><noCountry><name sortKey="Dahl, A" sort="Dahl, A" uniqKey="Dahl A" first="A" last="Dahl">A. Dahl</name><name sortKey="Sjaastad, O" sort="Sjaastad, O" uniqKey="Sjaastad O" first="O" last="Sjaastad">O. Sjaastad</name></noCountry><country name="Norvège"><noRegion><name sortKey="Johnson, S E" sort="Johnson, S E" uniqKey="Johnson S" first="S E" last="Johnson">S E Johnson</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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