Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease
Identifieur interne : 001276 ( PascalFrancis/Corpus ); précédent : 001275; suivant : 001277Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease
Auteurs : Kazuaki Kanai ; Satoshi Kuwabara ; Setsu Sawai ; Miho Nakata ; Sonoko Misawa ; Sagiri Isose ; Shigeki Hirano ; Naoki Kawaguchi ; Kaoru Katayama ; Takamichi HattoriSource :
- Movement disorders [ 0885-3185 ] ; 2008.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny 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 asyet-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.
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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 08-0247756 INIST |
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ET : | Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease |
AU : | KANAI (Kazuaki); KUWABARA (Satoshi); SAWAI (Setsu); NAKATA (Miho); MISAWA (Sonoko); ISOSE (Sagiri); HIRANO (Shigeki); KAWAGUCHI (Naoki); KATAYAMA (Kaoru); HATTORI (Takamichi) |
AF : | Department of Neurology, Chiba University Graduate School of Medicine/Chiba/Japon (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 10 aut.); Department of Neurology, Narita Red Cross Hospital/Narita/Japon (9 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 5; Pp. 748-751; Bibl. 10 ref. |
LA : | Anglais |
EA : | We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny 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 asyet-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. |
CC : | 002B17; 002B17G |
FD : | Chorée de Huntington; Maladie du neurone moteur; Sclérose latérale amyotrophique; Atrophie; Pathologie du système nerveux; Diagnostic différentiel |
FG : | Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Maladie héréditaire; Pathologie du système nerveux central; Pathologie de la moelle épinière |
ED : | Huntington disease; Motor neuron disease; Amyotrophic lateral sclerosis; Atrophy; Nervous system diseases; Differential diagnostic |
EG : | Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Central nervous system disease; Spinal cord disease |
SD : | Corea Huntington; Neurona motora enfermedad; Esclerosis lateral amiotrófica; Atrofia; Sistema nervioso patología; Diagnóstico diferencial |
LO : | INIST-20953.354000173776990200 |
ID : | 08-0247756 |
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Pascal:08-0247756Le document en format XML
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<front><div type="abstract" xml:lang="en">We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny 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 asyet-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>
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<fC03 i1="01" i2="X" l="SPA"><s0>Corea Huntington</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Maladie du neurone moteur</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Motor neuron disease</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Neurona motora enfermedad</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Sclérose latérale amyotrophique</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Amyotrophic lateral sclerosis</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Esclerosis lateral amiotrófica</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Atrophie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Atrophy</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Atrofia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Diagnostic différentiel</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Differential diagnostic</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Diagnóstico diferencial</s0>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie de la moelle épinière</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Spinal cord disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Médula espinal patología</s0>
<s5>43</s5>
</fC07>
<fN21><s1>162</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 08-0247756 INIST</NO>
<ET>Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease</ET>
<AU>KANAI (Kazuaki); KUWABARA (Satoshi); SAWAI (Setsu); NAKATA (Miho); MISAWA (Sonoko); ISOSE (Sagiri); HIRANO (Shigeki); KAWAGUCHI (Naoki); KATAYAMA (Kaoru); HATTORI (Takamichi)</AU>
<AF>Department of Neurology, Chiba University Graduate School of Medicine/Chiba/Japon (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 10 aut.); Department of Neurology, Narita Red Cross Hospital/Narita/Japon (9 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 5; Pp. 748-751; Bibl. 10 ref.</SO>
<LA>Anglais</LA>
<EA>We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny 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 asyet-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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Chorée de Huntington; Maladie du neurone moteur; Sclérose latérale amyotrophique; Atrophie; Pathologie du système nerveux; Diagnostic différentiel</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Maladie héréditaire; Pathologie du système nerveux central; Pathologie de la moelle épinière</FG>
<ED>Huntington disease; Motor neuron disease; Amyotrophic lateral sclerosis; Atrophy; Nervous system diseases; Differential diagnostic</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Central nervous system disease; Spinal cord disease</EG>
<SD>Corea Huntington; Neurona motora enfermedad; Esclerosis lateral amiotrófica; Atrofia; Sistema nervioso patología; Diagnóstico diferencial</SD>
<LO>INIST-20953.354000173776990200</LO>
<ID>08-0247756</ID>
</server>
</inist>
</record>
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