Genetically confirmed Huntington's disease masquerading as motor neuron disease
Identifieur interne : 002823 ( Main/Exploration ); précédent : 002822; suivant : 002824Genetically confirmed Huntington's disease masquerading as motor neuron disease
Auteurs : Kazuaki Kanai [Japon] ; Satoshi Kuwabara [Japon] ; Setsu Sawai [Japon] ; Miho Nakata [Japon] ; Sonoko Misawa [Japon] ; Sagiri Isose [Japon] ; Shigeki Hirano [Japon] ; Naoki Kawaguchi [Japon] ; Kaoru Katayama [Japon] ; Takamichi Hattori [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-04-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Amyotrophic lateral sclerosis, Arm (physiopathology), Atrophy, Diagnosis, Differential, Differential diagnostic, Electromyography, Genetic Testing, Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Huntington disease, Huntington's disease, Male, Motor Neuron Disease (diagnosis), Motor neuron disease, Muscular Atrophy (diagnosis), Muscular Atrophy (genetics), Nerve Tissue Proteins (genetics), Nervous system diseases, Nuclear Proteins (genetics), Trinucleotide Repeat Expansion, amyotrophic lateral sclerosis, asymmetric atrophy, motor neuron disease, polyglutamine disease.
- 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. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.21937
Affiliations:
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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">ISTEX</idno><idno type="RBID">ISTEX:46E752062F94CC3FA5074A347993C8E5C15A64EC</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/mds.21937</idno><idno type="url">https://api.istex.fr/document/46E752062F94CC3FA5074A347993C8E5C15A64EC/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F89</idno><idno 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Chiba</wicri:regionArea><wicri:noRegion>Chiba</wicri:noRegion></affiliation></author><author><name sortKey="Sawai, Setsu" sort="Sawai, Setsu" uniqKey="Sawai S" first="Setsu" last="Sawai">Setsu Sawai</name><affiliation wicri:level="1"><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="Nakata, Miho" sort="Nakata, Miho" uniqKey="Nakata M" first="Miho" last="Nakata">Miho Nakata</name><affiliation wicri:level="1"><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="Misawa, Sonoko" sort="Misawa, Sonoko" uniqKey="Misawa S" first="Sonoko" last="Misawa">Sonoko Misawa</name><affiliation wicri:level="1"><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="Isose, Sagiri" sort="Isose, Sagiri" uniqKey="Isose S" first="Sagiri" last="Isose">Sagiri Isose</name><affiliation wicri:level="1"><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="Hirano, Shigeki" sort="Hirano, Shigeki" uniqKey="Hirano S" first="Shigeki" last="Hirano">Shigeki Hirano</name><affiliation wicri:level="1"><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="Kawaguchi, Naoki" sort="Kawaguchi, Naoki" uniqKey="Kawaguchi N" first="Naoki" last="Kawaguchi">Naoki Kawaguchi</name><affiliation wicri:level="1"><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="Katayama, Kaoru" sort="Katayama, Kaoru" uniqKey="Katayama K" first="Kaoru" last="Katayama">Kaoru Katayama</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Narita Red Cross Hospital, Narita</wicri:regionArea><wicri:noRegion>Narita</wicri:noRegion></affiliation></author><author><name sortKey="Hattori, Takamichi" sort="Hattori, Takamichi" uniqKey="Hattori T" first="Takamichi" last="Hattori">Takamichi Hattori</name><affiliation wicri:level="1"><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></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-04-15">2008-04-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="748">748</biblScope><biblScope unit="page" to="751">751</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">46E752062F94CC3FA5074A347993C8E5C15A64EC</idno><idno type="DOI">10.1002/mds.21937</idno><idno type="ArticleID">MDS21937</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Amyotrophic lateral sclerosis</term><term>Arm (physiopathology)</term><term>Atrophy</term><term>Diagnosis, Differential</term><term>Differential diagnostic</term><term>Electromyography</term><term>Genetic Testing</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Huntington disease</term><term>Huntington's disease</term><term>Male</term><term>Motor Neuron Disease (diagnosis)</term><term>Motor neuron disease</term><term>Muscular Atrophy (diagnosis)</term><term>Muscular Atrophy (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>Trinucleotide Repeat Expansion</term><term>amyotrophic lateral sclerosis</term><term>asymmetric atrophy</term><term>motor neuron disease</term><term>polyglutamine disease</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><keywords scheme="Pascal" xml:lang="fr"><term>Atrophie</term><term>Chorée de Huntington</term><term>Diagnostic différentiel</term><term>Maladie du neurone moteur</term><term>Pathologie du système nerveux</term><term>Sclérose latérale amyotrophique</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Kanai, Kazuaki" sort="Kanai, Kazuaki" uniqKey="Kanai K" first="Kazuaki" last="Kanai">Kazuaki Kanai</name></noRegion><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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