MovDisordV3, Main, Merge, bibRecord, 005547

Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications

Identifieur interne : 005547 ( Main/Merge ); précédent : 005546; suivant : 005548

Presence 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.

RBID : ISTEX:B11898E0548595DD2AFDFC0CB340F96282A7589D

English descriptors

KwdEn :
- Aged, Alleles, Antiparkinson Agents (therapeutic use), Caudate Nucleus (radionuclide imaging), DNA Mutational Analysis, Dominance, Cerebral (physiology), Genetic Testing, Heterozygote Detection, Humans, Levodopa (therapeutic use), Male, Middle Aged, Nerve Tissue Proteins, Neurologic Examination, PET, Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson Disease (radionuclide imaging), Parkinson's disease, Polymerase Chain Reaction, Positron-Emission Tomography, Proteins (genetics), Putamen (radionuclide imaging), SCA2, Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (radionuclide imaging), 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:

https://api.istex.fr/document/B11898E0548595DD2AFDFC0CB340F96282A7589D/fulltext/pdf

DOI: 10.1002/mds.20212

Links to Exploration step

ISTEX:B11898E0548595DD2AFDFC0CB340F96282A7589D

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications</title>
<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>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:B11898E0548595DD2AFDFC0CB340F96282A7589D</idno>
<date when="2004" year="2004">2004</date>
<idno type="doi">10.1002/mds.20212</idno>
<idno type="url">https://api.istex.fr/document/B11898E0548595DD2AFDFC0CB340F96282A7589D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002E87</idno>
<idno type="wicri:Area/Istex/Curation">002E87</idno>
<idno type="wicri:Area/Istex/Checkpoint">002570</idno>
<idno type="wicri:doubleKey">0885-3185:2004:Shan D:presence:of:spinocerebellar</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:15378681</idno>
<idno type="wicri:Area/PubMed/Corpus">003337</idno>
<idno type="wicri:Area/PubMed/Curation">003337</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003360</idno>
<idno type="wicri:Area/Ncbi/Merge">000F51</idno>
<idno type="wicri:Area/Ncbi/Curation">000F51</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000F51</idno>
<idno type="wicri:doubleKey">0885-3185:2004:Shan D:presence:of:spinocerebellar</idno>
<idno type="wicri:Area/Main/Merge">005547</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications</title>
<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>
<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>
<wicri:regionArea>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</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>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
<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>
<wicri:regionArea>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
<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>
<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>
<wicri:regionArea>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
</analytic>
<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>
<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="2004-11">2004-11</date>
<biblScope unit="vol">19</biblScope>
<biblScope unit="issue">11</biblScope>
<biblScope unit="page" from="1357">1357</biblScope>
<biblScope unit="page" to="1360">1360</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">B11898E0548595DD2AFDFC0CB340F96282A7589D</idno>
<idno type="DOI">10.1002/mds.20212</idno>
<idno type="ArticleID">MDS20212</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<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>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term>
</keywords>
<keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Caudate Nucleus</term>
<term>Parkinson Disease</term>
<term>Putamen</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<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>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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>
</TEI>
<double doi="10.1002/mds.20212"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications</title>
<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>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:B11898E0548595DD2AFDFC0CB340F96282A7589D</idno>
<date when="2004" year="2004">2004</date>
<idno type="doi">10.1002/mds.20212</idno>
<idno type="url">https://api.istex.fr/document/B11898E0548595DD2AFDFC0CB340F96282A7589D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002E87</idno>
<idno type="wicri:Area/Istex/Curation">002E87</idno>
<idno type="wicri:Area/Istex/Checkpoint">002570</idno>
<idno type="wicri:doubleKey">0885-3185:2004:Shan D:presence:of:spinocerebellar</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications</title>
<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>
<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>
<wicri:regionArea>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</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>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
<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>
<wicri:regionArea>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
<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>
<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>
<wicri:regionArea>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan</wicri:regionArea>
<wicri:noRegion>Taiwan</wicri:noRegion>
</affiliation>
</author>
</analytic>
<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>
<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="2004-11">2004-11</date>
<biblScope unit="vol">19</biblScope>
<biblScope unit="issue">11</biblScope>
<biblScope unit="page" from="1357">1357</biblScope>
<biblScope unit="page" to="1360">1360</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">B11898E0548595DD2AFDFC0CB340F96282A7589D</idno>
<idno type="DOI">10.1002/mds.20212</idno>
<idno type="ArticleID">MDS20212</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PET</term>
<term>Parkinson's disease</term>
<term>SCA2</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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>
</TEI>
</ISTEX>
<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.</title>
<author><name sortKey="Shan, Din E" sort="Shan, Din E" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name>
<affiliation wicri:level="1"><nlm:affiliation>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China.</nlm:affiliation>
<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>
</author>
<author><name sortKey="Liu, Ren Shyan" sort="Liu, Ren Shyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name>
</author>
<author><name sortKey="Sun, Chen Ming" sort="Sun, Chen Ming" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name>
</author>
<author><name sortKey="Lee, Shwn Jen" sort="Lee, Shwn Jen" uniqKey="Lee S" first="Shwn-Jen" last="Lee">Shwn-Jen Lee</name>
</author>
<author><name sortKey="Liao, Kwong Kum" sort="Liao, Kwong Kum" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
</author>
<author><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2004">2004</date>
<idno type="RBID">pubmed:15378681</idno>
<idno type="pmid">15378681</idno>
<idno type="doi">10.1002/mds.20212</idno>
<idno type="wicri:Area/PubMed/Corpus">003337</idno>
<idno type="wicri:Area/PubMed/Curation">003337</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003360</idno>
<idno type="wicri:Area/Ncbi/Merge">000F51</idno>
<idno type="wicri:Area/Ncbi/Curation">000F51</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000F51</idno>
<idno type="wicri:doubleKey">0885-3185:2004:Shan D:presence:of:spinocerebellar</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.</title>
<author><name sortKey="Shan, Din E" sort="Shan, Din E" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name>
<affiliation wicri:level="1"><nlm:affiliation>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China.</nlm:affiliation>
<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>
</author>
<author><name sortKey="Liu, Ren Shyan" sort="Liu, Ren Shyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name>
</author>
<author><name sortKey="Sun, Chen Ming" sort="Sun, Chen Ming" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name>
</author>
<author><name sortKey="Lee, Shwn Jen" sort="Lee, Shwn Jen" uniqKey="Lee S" first="Shwn-Jen" last="Lee">Shwn-Jen Lee</name>
</author>
<author><name sortKey="Liao, Kwong Kum" sort="Liao, Kwong Kum" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
</author>
<author><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2004" type="published">2004</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<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>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (radionuclide imaging)</term>
<term>Polymerase Chain Reaction</term>
<term>Positron-Emission Tomography</term>
<term>Proteins (genetics)</term>
<term>Putamen (radionuclide imaging)</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>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term>
</keywords>
<keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Caudate Nucleus</term>
<term>Parkinson Disease</term>
<term>Putamen</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<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>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</TEI>
</PubMed>
</double>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005547 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 005547 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     ISTEX:B11898E0548595DD2AFDFC0CB340F96282A7589D
   |texte=   Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications

Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.