Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
Identifieur interne : 003B89 ( Main/Exploration ); 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
Affiliations:
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Le document en format XML
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<author><name sortKey="Liao, Kwong Um" sort="Liao, Kwong Um" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
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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>Human</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nerve Tissue Proteins</term>
<term>Nervous system diseases</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 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>
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<term>Spinocerebellar Ataxias (radionuclide imaging)</term>
<term>Spinocerebellar ataxia</term>
<term>Sporadic</term>
<term>Treatment Outcome</term>
<term>Trinucleotide Repeats</term>
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<term>Spinocerebellar Ataxias</term>
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<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>
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<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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<term>Homme</term>
<term>Mutation</term>
<term>Parkinson maladie</term>
<term>Sporadique</term>
<term>Système nerveux pathologie</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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<tree><country name="République populaire de Chine"><noRegion><name sortKey="Shan, Din" sort="Shan, Din" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name>
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<name sortKey="Lee, Shwn En" sort="Lee, Shwn En" uniqKey="Lee S" first="Shwn-Jen" last="Lee">Shwn-Jen Lee</name>
<name sortKey="Liao, Kwong Um" sort="Liao, Kwong Um" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
<name sortKey="Liao, Kwong Um" sort="Liao, Kwong Um" uniqKey="Liao K" first="Kwong-Kum" last="Liao">Kwong-Kum Liao</name>
<name sortKey="Liu, Ren Hyan" sort="Liu, Ren Hyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name>
<name sortKey="Shan, Din" sort="Shan, Din" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name>
<name sortKey="Soong, Bing En" sort="Soong, Bing En" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
<name sortKey="Soong, Bing En" sort="Soong, Bing En" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
<name sortKey="Sun, Chen Ing" sort="Sun, Chen Ing" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name>
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