Genetically confirmed Huntington's disease masquerading as motor neuron disease.
Identifieur interne : 002330 ( PubMed/Curation ); précédent : 002329; suivant : 002331Genetically 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
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pubmed:18186118Le document en format XML
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<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>
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<author><name sortKey="Kuwabara, Satoshi" sort="Kuwabara, Satoshi" uniqKey="Kuwabara S" first="Satoshi" last="Kuwabara">Satoshi Kuwabara</name>
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<author><name sortKey="Sawai, Setsu" sort="Sawai, Setsu" uniqKey="Sawai S" first="Setsu" last="Sawai">Setsu Sawai</name>
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<author><name sortKey="Nakata, Miho" sort="Nakata, Miho" uniqKey="Nakata M" first="Miho" last="Nakata">Miho Nakata</name>
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<author><name sortKey="Misawa, Sonoko" sort="Misawa, Sonoko" uniqKey="Misawa S" first="Sonoko" last="Misawa">Sonoko Misawa</name>
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<author><name sortKey="Isose, Sagiri" sort="Isose, Sagiri" uniqKey="Isose S" first="Sagiri" last="Isose">Sagiri Isose</name>
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<author><name sortKey="Kawaguchi, Naoki" sort="Kawaguchi, Naoki" uniqKey="Kawaguchi N" first="Naoki" last="Kawaguchi">Naoki Kawaguchi</name>
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<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>
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