Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
Identifieur interne : 003B89 ( Main/Curation ); précédent : 003B88; suivant : 003B90Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
Auteurs : Din-E Shan [République populaire de Chine] ; Ren-Shyan Liu [République populaire de Chine] ; Chen-Ming Sun [République populaire de Chine] ; Shwn-Jen Lee [République populaire de Chine] ; Kwong-Kum Liao [République populaire de Chine] ; Bing-Wen Soong [République populaire de Chine]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-11.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Aged, Alleles, Antiparkinson Agents (therapeutic use), Caudate Nucleus (radionuclide imaging), DNA Mutational Analysis, Dominance, Cerebral (physiology), Genetic Testing, Heterozygote Detection, Human, Humans, Levodopa (therapeutic use), Male, Middle Aged, Mutation, Nerve Tissue Proteins, Nervous system diseases, Neurologic Examination, PET, Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson Disease (radionuclide imaging), Parkinson disease, Parkinson's disease, Polymerase Chain Reaction, Positron-Emission Tomography, Proteins (genetics), Putamen (radionuclide imaging), SCA2, Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (radionuclide imaging), Spinocerebellar ataxia, Sporadic, Treatment Outcome, Trinucleotide Repeats, Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : Proteins, Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- drug therapy : Parkinson Disease.
- genetics : Parkinson Disease, Spinocerebellar Ataxias.
- physiology : Dominance, Cerebral.
- radionuclide imaging : Caudate Nucleus, Parkinson Disease, Putamen, Spinocerebellar Ataxias.
- Aged, Alleles, DNA Mutational Analysis, Genetic Testing, Heterozygote Detection, Humans, Male, Middle Aged, Nerve Tissue Proteins, Neurologic Examination, Polymerase Chain Reaction, Positron-Emission Tomography, Treatment Outcome, Trinucleotide Repeats.
Abstract
Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20212
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ISTEX:B11898E0548595DD2AFDFC0CB340F96282A7589DLe document en format XML
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<term>DNA Mutational Analysis</term>
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<term>Levodopa (therapeutic use)</term>
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<term>Mutation</term>
<term>Nerve Tissue Proteins</term>
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<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (radionuclide imaging)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Polymerase Chain Reaction</term>
<term>Positron-Emission Tomography</term>
<term>Proteins (genetics)</term>
<term>Putamen (radionuclide imaging)</term>
<term>SCA2</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar Ataxias (radionuclide imaging)</term>
<term>Spinocerebellar ataxia</term>
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<front><div type="abstract" xml:lang="en">Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society</div>
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<author><name sortKey="Lee, Shwn Jen" sort="Lee, Shwn Jen" uniqKey="Lee S" first="Shwn-Jen" last="Lee">Shwn-Jen Lee</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Physical Therapy, National Yang-Ming University</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Liao, Kwong Kum" sort="Liao, Kwong Kum" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>The Neurological Institute, Taipei Veterans General Hospital</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, National Yang-Ming University</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>The Neurological Institute, Taipei Veterans General Hospital</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, National Yang-Ming University</s1>
<s2>Taipei</s2>
<s3>TWN</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Taïwan</country>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2004">2004</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Human</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Spinocerebellar ataxia</term>
<term>Sporadic</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Ataxie spinocérébelleuse</term>
<term>Mutation</term>
<term>Parkinson maladie</term>
<term>Homme</term>
<term>Sporadique</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Among 242 patients with apparently sporadic Parkinson's disease, a 70-year-old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late-onset, levodopa-responsive Parkinson's disease may have multiple causes.</div>
</front>
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<author><name sortKey="Shan, Din" sort="Shan, Din" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name>
</author>
<author><name sortKey="Liu, Ren Hyan" sort="Liu, Ren Hyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name>
</author>
<author><name sortKey="Sun, Chen Ing" sort="Sun, Chen Ing" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name>
</author>
<author><name sortKey="Lee, Shwn En" sort="Lee, Shwn En" uniqKey="Lee S" first="Shwn-Jen" last="Lee">Shwn-Jen Lee</name>
</author>
<author><name sortKey="Liao, Kwong Um" sort="Liao, Kwong Um" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
</author>
<author><name sortKey="Soong, Bing En" sort="Soong, Bing En" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
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<author><name sortKey="Shan, Din" sort="Shan, Din" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
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<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Liu, Ren Hyan" sort="Liu, Ren Hyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>National PET/Cyclotron Center, Taipei Veterans General Hospital, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sun, Chen Ing" sort="Sun, Chen Ing" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>National PET/Cyclotron Center, Taipei Veterans General Hospital, Taipei, Taiwan</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Lee, Shwn En" sort="Lee, Shwn En" uniqKey="Lee S" first="Shwn-Jen" last="Lee">Shwn-Jen Lee</name>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Physical Therapy, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Liao, Kwong Um" sort="Liao, Kwong Um" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
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<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
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<author><name sortKey="Soong, Bing En" sort="Soong, Bing En" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
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<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
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<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2004-11">2004-11</date>
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<biblScope unit="page" to="1360">1360</biblScope>
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<term>Alleles</term>
<term>Antiparkinson Agents (therapeutic use)</term>
<term>Caudate Nucleus (radionuclide imaging)</term>
<term>DNA Mutational Analysis</term>
<term>Dominance, Cerebral (physiology)</term>
<term>Genetic Testing</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Nerve Tissue Proteins</term>
<term>Neurologic Examination</term>
<term>PET</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (radionuclide imaging)</term>
<term>Parkinson's disease</term>
<term>Polymerase Chain Reaction</term>
<term>Positron-Emission Tomography</term>
<term>Proteins (genetics)</term>
<term>Putamen (radionuclide imaging)</term>
<term>SCA2</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar Ataxias (radionuclide imaging)</term>
<term>Treatment Outcome</term>
<term>Trinucleotide Repeats</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
<term>Ubiquitin-Protein Ligases</term>
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<term>Levodopa</term>
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<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
<term>Spinocerebellar Ataxias</term>
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<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term>
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<keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Caudate Nucleus</term>
<term>Parkinson Disease</term>
<term>Putamen</term>
<term>Spinocerebellar Ataxias</term>
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<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Alleles</term>
<term>DNA Mutational Analysis</term>
<term>Genetic Testing</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Nerve Tissue Proteins</term>
<term>Neurologic Examination</term>
<term>Polymerase Chain Reaction</term>
<term>Positron-Emission Tomography</term>
<term>Treatment Outcome</term>
<term>Trinucleotide Repeats</term>
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<front><div type="abstract" xml:lang="en">Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society</div>
</front>
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