Genetically confirmed Huntington's disease masquerading as motor neuron disease.
Identifieur interne : 002273 ( PubMed/Checkpoint ); précédent : 002272; suivant : 002274Genetically confirmed Huntington's disease masquerading as motor neuron disease.
Auteurs : Kazuaki Kanai [Japon] ; Satoshi Kuwabara ; Setsu Sawai ; Miho Nakata ; Sonoko Misawa ; Sagiri Isose ; Shigeki Hirano ; Naoki Kawaguchi ; Kaoru Katayama ; Takamichi HattoriSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adult, Arm (physiopathology), Diagnosis, Differential, Electromyography, Genetic Testing, Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Male, Motor Neuron Disease (diagnosis), Muscular Atrophy (diagnosis), Muscular Atrophy (genetics), Nerve Tissue Proteins (genetics), Nuclear Proteins (genetics), Trinucleotide Repeat Expansion.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins.
- diagnosis : Huntington Disease, Motor Neuron Disease, Muscular Atrophy.
- genetics : Huntington Disease, Muscular Atrophy.
- physiopathology : Arm.
- Adult, Diagnosis, Differential, Electromyography, Genetic Testing, Humans, Male, Trinucleotide Repeat Expansion.
Abstract
We describe a patient with Huntington's disease (HD) who showed asymmetrical upper limb amyotrophy as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain as-yet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.
DOI: 10.1002/mds.21937
PubMed: 18186118
Affiliations:
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uniqKey="Nakata M" first="Miho" last="Nakata">Miho Nakata</name></author><author><name sortKey="Misawa, Sonoko" sort="Misawa, Sonoko" uniqKey="Misawa S" first="Sonoko" last="Misawa">Sonoko Misawa</name></author><author><name sortKey="Isose, Sagiri" sort="Isose, Sagiri" uniqKey="Isose S" first="Sagiri" last="Isose">Sagiri Isose</name></author><author><name sortKey="Hirano, Shigeki" sort="Hirano, Shigeki" uniqKey="Hirano S" first="Shigeki" last="Hirano">Shigeki Hirano</name></author><author><name sortKey="Kawaguchi, Naoki" sort="Kawaguchi, Naoki" uniqKey="Kawaguchi N" first="Naoki" last="Kawaguchi">Naoki Kawaguchi</name></author><author><name sortKey="Katayama, Kaoru" sort="Katayama, Kaoru" uniqKey="Katayama K" first="Kaoru" last="Katayama">Kaoru Katayama</name></author><author><name sortKey="Hattori, Takamichi" sort="Hattori, Takamichi" uniqKey="Hattori T" first="Takamichi" last="Hattori">Takamichi Hattori</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21937</idno><idno type="RBID">pubmed:18186118</idno><idno type="pmid">18186118</idno><idno type="wicri:Area/PubMed/Corpus">002330</idno><idno type="wicri:Area/PubMed/Curation">002330</idno><idno type="wicri:Area/PubMed/Checkpoint">002273</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetically confirmed Huntington's disease masquerading as motor neuron disease.</title><author><name sortKey="Kanai, Kazuaki" sort="Kanai, Kazuaki" uniqKey="Kanai K" first="Kazuaki" last="Kanai">Kazuaki Kanai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Chiba University Graduate School of Medicine, Chiba, Japan. vzr03355@nifty.ne.jp</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Chiba University Graduate School of Medicine, Chiba</wicri:regionArea><wicri:noRegion>Chiba</wicri:noRegion></affiliation></author><author><name sortKey="Kuwabara, Satoshi" sort="Kuwabara, Satoshi" uniqKey="Kuwabara S" first="Satoshi" last="Kuwabara">Satoshi Kuwabara</name></author><author><name sortKey="Sawai, Setsu" sort="Sawai, Setsu" uniqKey="Sawai S" first="Setsu" last="Sawai">Setsu Sawai</name></author><author><name sortKey="Nakata, Miho" sort="Nakata, Miho" uniqKey="Nakata M" first="Miho" last="Nakata">Miho Nakata</name></author><author><name sortKey="Misawa, Sonoko" sort="Misawa, Sonoko" uniqKey="Misawa S" first="Sonoko" last="Misawa">Sonoko Misawa</name></author><author><name sortKey="Isose, Sagiri" sort="Isose, Sagiri" uniqKey="Isose S" first="Sagiri" last="Isose">Sagiri Isose</name></author><author><name sortKey="Hirano, Shigeki" sort="Hirano, Shigeki" uniqKey="Hirano S" first="Shigeki" last="Hirano">Shigeki Hirano</name></author><author><name sortKey="Kawaguchi, Naoki" sort="Kawaguchi, Naoki" uniqKey="Kawaguchi N" first="Naoki" last="Kawaguchi">Naoki Kawaguchi</name></author><author><name sortKey="Katayama, Kaoru" sort="Katayama, Kaoru" uniqKey="Katayama K" first="Kaoru" last="Katayama">Kaoru Katayama</name></author><author><name sortKey="Hattori, Takamichi" sort="Hattori, Takamichi" uniqKey="Hattori T" first="Takamichi" last="Hattori">Takamichi Hattori</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="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Arm (physiopathology)</term><term>Diagnosis, Differential</term><term>Electromyography</term><term>Genetic Testing</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Male</term><term>Motor Neuron Disease (diagnosis)</term><term>Muscular Atrophy (diagnosis)</term><term>Muscular Atrophy (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Huntington Disease</term><term>Motor Neuron Disease</term><term>Muscular Atrophy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Muscular Atrophy</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Arm</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Diagnosis, Differential</term><term>Electromyography</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Trinucleotide Repeat Expansion</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a patient with Huntington's disease (HD) who showed asymmetrical upper limb amyotrophy as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain as-yet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18186118</PMID><DateCreated><Year>2008</Year><Month>05</Month><Day>01</Day></DateCreated><DateCompleted><Year>2008</Year><Month>05</Month><Day>30</Day></DateCompleted><DateRevised><Year>2012</Year><Month>07</Month><Day>11</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>5</Issue><PubDate><Year>2008</Year><Month>Apr</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Genetically confirmed Huntington's disease masquerading as motor neuron disease.</ArticleTitle><Pagination><MedlinePgn>748-51</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.21937</ELocationID><Abstract><AbstractText>We describe a patient with Huntington's disease (HD) who showed asymmetrical upper limb amyotrophy as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain as-yet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.</AbstractText><CopyrightInformation>2008 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kanai</LastName><ForeName>Kazuaki</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neurology, Chiba University Graduate School of Medicine, Chiba, Japan. vzr03355@nifty.ne.jp</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kuwabara</LastName><ForeName>Satoshi</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Sawai</LastName><ForeName>Setsu</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Nakata</LastName><ForeName>Miho</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Misawa</LastName><ForeName>Sonoko</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Isose</LastName><ForeName>Sagiri</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Hirano</LastName><ForeName>Shigeki</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Kawaguchi</LastName><ForeName>Naoki</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Katayama</LastName><ForeName>Kaoru</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Hattori</LastName><ForeName>Takamichi</ForeName><Initials>T</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 Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C086055">HTT protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009687">Nuclear Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001132">Arm</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004576">Electromyography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006816">Huntington Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016472">Motor Neuron Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009133">Muscular Atrophy</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009687">Nuclear Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019680">Trinucleotide Repeat Expansion</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>1</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>5</Month><Day>31</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>1</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21937</ArticleId><ArticleId IdType="pubmed">18186118</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Japon</li></country></list><tree><noCountry><name sortKey="Hattori, Takamichi" sort="Hattori, Takamichi" uniqKey="Hattori T" first="Takamichi" last="Hattori">Takamichi Hattori</name><name sortKey="Hirano, Shigeki" sort="Hirano, Shigeki" uniqKey="Hirano S" first="Shigeki" last="Hirano">Shigeki Hirano</name><name sortKey="Isose, Sagiri" sort="Isose, Sagiri" uniqKey="Isose S" first="Sagiri" last="Isose">Sagiri Isose</name><name sortKey="Katayama, Kaoru" sort="Katayama, Kaoru" uniqKey="Katayama K" first="Kaoru" last="Katayama">Kaoru Katayama</name><name sortKey="Kawaguchi, Naoki" sort="Kawaguchi, Naoki" uniqKey="Kawaguchi N" first="Naoki" last="Kawaguchi">Naoki Kawaguchi</name><name sortKey="Kuwabara, Satoshi" sort="Kuwabara, Satoshi" uniqKey="Kuwabara S" first="Satoshi" last="Kuwabara">Satoshi Kuwabara</name><name sortKey="Misawa, Sonoko" sort="Misawa, Sonoko" uniqKey="Misawa S" first="Sonoko" last="Misawa">Sonoko Misawa</name><name sortKey="Nakata, Miho" sort="Nakata, Miho" uniqKey="Nakata M" first="Miho" last="Nakata">Miho Nakata</name><name sortKey="Sawai, Setsu" sort="Sawai, Setsu" uniqKey="Sawai S" first="Setsu" last="Sawai">Setsu Sawai</name></noCountry><country name="Japon"><noRegion><name sortKey="Kanai, Kazuaki" sort="Kanai, Kazuaki" uniqKey="Kanai K" first="Kazuaki" last="Kanai">Kazuaki Kanai</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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