Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: appearance in two sets of dizygotic twins in the same family.
Identifieur interne : 004F76 ( Ncbi/Checkpoint ); 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
Affiliations:
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pubmed:9613754Le document en format XML
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<author><name sortKey="Johnson, S E" sort="Johnson, S E" uniqKey="Johnson S" first="S E" last="Johnson">S E Johnson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Akershus sentralsykehus, Nordbyhagen, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Neurology, Akershus sentralsykehus, Nordbyhagen</wicri:regionArea>
<wicri:noRegion>Nordbyhagen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dahl, A" sort="Dahl, A" uniqKey="Dahl A" first="A" last="Dahl">A. Dahl</name>
</author>
<author><name sortKey="Sjaastad, O" sort="Sjaastad, O" uniqKey="Sjaastad O" first="O" last="Sjaastad">O. Sjaastad</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: appearance in two sets of dizygotic twins in the same family.</title>
<author><name sortKey="Johnson, S E" sort="Johnson, S E" uniqKey="Johnson S" first="S E" last="Johnson">S E Johnson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Akershus sentralsykehus, Nordbyhagen, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Neurology, Akershus sentralsykehus, Nordbyhagen</wicri:regionArea>
<wicri:noRegion>Nordbyhagen</wicri:noRegion>
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<author><name sortKey="Dahl, A" sort="Dahl, A" uniqKey="Dahl A" first="A" last="Dahl">A. Dahl</name>
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<author><name sortKey="Sjaastad, O" sort="Sjaastad, O" uniqKey="Sjaastad O" first="O" last="Sjaastad">O. Sjaastad</name>
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<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>
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<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>
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<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>
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<affiliations><list><country><li>Norvège</li>
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<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>
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</record>
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