Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.
Identifieur interne : 000F51 ( Ncbi/Curation ); précédent : 000F50; suivant : 000F52Presence 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 ; Chen-Ming Sun ; Shwn-Jen Lee ; Kwong-Kum Liao ; Bing-Wen SoongSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
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, Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson Disease (radionuclide imaging), Polymerase Chain Reaction, Positron-Emission Tomography, Proteins (genetics), Putamen (radionuclide imaging), 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.
DOI: 10.1002/mds.20212
PubMed: 15378681
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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></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></record>Pour manipuler ce document sous Unix (Dilib)
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