Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.
Identifieur interne : 003337 ( PubMed/Corpus ); précédent : 003336; suivant : 003338Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.
Auteurs : Din-E Shan ; 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
Links to Exploration step
pubmed:15378681Le document en format XML
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<author><name sortKey="Shan, Din E" sort="Shan, Din E" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name>
<affiliation><nlm:affiliation>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China.</nlm:affiliation>
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<author><name sortKey="Liu, Ren Shyan" sort="Liu, Ren Shyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name>
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<author><name sortKey="Sun, Chen Ming" sort="Sun, Chen Ming" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name>
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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>
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<author><name sortKey="Liao, Kwong Kum" sort="Liao, Kwong Kum" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
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<author><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
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<author><name sortKey="Liu, Ren Shyan" sort="Liu, Ren Shyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name>
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<author><name sortKey="Sun, Chen Ming" sort="Sun, Chen Ming" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name>
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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>
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<author><name sortKey="Liao, Kwong Kum" sort="Liao, Kwong Kum" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
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<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>
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<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>
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<term>DNA Mutational Analysis</term>
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<term>Middle Aged</term>
<term>Nerve Tissue Proteins</term>
<term>Neurologic Examination</term>
<term>Polymerase Chain Reaction</term>
<term>Positron-Emission Tomography</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.</div>
</front>
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<Abstract><AbstractText>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.</AbstractText>
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