Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2
Identifieur interne : 004497 ( Main/Exploration ); précédent : 004496; suivant : 004498Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2
Auteurs : Chin-Song Lu [Taïwan] ; Yah-Huei Wu Chou [Taïwan] ; Tzu-Chen Yen [Taïwan] ; Chon-Haw Tsai [Taïwan] ; Rou-Shayn Chen [Taïwan] ; Hsiu-Chen Chang [Taïwan]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Aged, Antiparkinson agent, Atrophy (pathology), Case study, Cerebellum (pathology), Corpus Striatum (pathology), Corpus Striatum (physiopathology), Dopamine Agonists (therapeutic use), Emission, Exploration, Genotype, Human, Humans, Levodopa, Levodopa (therapeutic use), Magnetic Resonance Imaging, Male, Middle Aged, Organotechnetium Compounds (diagnostic use), Parkinson disease, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Pedigree, Phenotype, Photon, Pons (pathology), Radiopharmaceuticals (diagnostic use), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology), Spinocerebellar Ataxias (physiopathology), Spinocerebellar heredodegeneration, Substantia Nigra (pathology), Substantia Nigra (physiopathology), Tomography, Tomography, Emission-Computed, Single-Photon, Tropanes (diagnostic use), [99mTc]TRODAT‐1 SPECT, ataxin‐2 gene, parkinsonism, spinocerebellar ataxia type 2.
- MESH :
- chemical , diagnostic use : Organotechnetium Compounds, Radiopharmaceuticals, Tropanes.
- chemical , therapeutic use : Dopamine Agonists, Levodopa.
- drug therapy : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders, Spinocerebellar Ataxias.
- pathology : Atrophy, Cerebellum, Corpus Striatum, Parkinsonian Disorders, Pons, Spinocerebellar Ataxias, Substantia Nigra.
- physiopathology : Corpus Striatum, Spinocerebellar Ataxias, Substantia Nigra.
- Aged, Genotype, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Pedigree, Tomography, Emission-Computed, Single-Photon.
Abstract
We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. Magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin‐2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [99mTc]TRODAT‐1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness. © 2002 Movement Disorder Society
Url:
DOI: 10.1002/mds.10243
Affiliations:
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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>New York</pubPlace><date type="published" when="2002-09">2002-09</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="1046">1046</biblScope><biblScope unit="page" to="1051">1051</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">241E73A3889B0ED6D2494961E2F6056797CF272F</idno><idno type="DOI">10.1002/mds.10243</idno><idno type="ArticleID">MDS10243</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Antiparkinson agent</term><term>Atrophy (pathology)</term><term>Case study</term><term>Cerebellum (pathology)</term><term>Corpus Striatum (pathology)</term><term>Corpus Striatum (physiopathology)</term><term>Dopamine Agonists (therapeutic use)</term><term>Emission</term><term>Exploration</term><term>Genotype</term><term>Human</term><term>Humans</term><term>Levodopa</term><term>Levodopa (therapeutic use)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Organotechnetium Compounds (diagnostic use)</term><term>Parkinson disease</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (pathology)</term><term>Pedigree</term><term>Phenotype</term><term>Photon</term><term>Pons (pathology)</term><term>Radiopharmaceuticals (diagnostic use)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar Ataxias (pathology)</term><term>Spinocerebellar Ataxias (physiopathology)</term><term>Spinocerebellar heredodegeneration</term><term>Substantia Nigra (pathology)</term><term>Substantia Nigra (physiopathology)</term><term>Tomography</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Tropanes (diagnostic use)</term><term>[99mTc]TRODAT‐1 SPECT</term><term>ataxin‐2 gene</term><term>parkinsonism</term><term>spinocerebellar ataxia type 2</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Organotechnetium Compounds</term><term>Radiopharmaceuticals</term><term>Tropanes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Dopamine Agonists</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Atrophy</term><term>Cerebellum</term><term>Corpus Striatum</term><term>Parkinsonian Disorders</term><term>Pons</term><term>Spinocerebellar Ataxias</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Corpus Striatum</term><term>Spinocerebellar Ataxias</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Antiparkinsonien</term><term>Emission</term><term>Etude cas</term><term>Exploration</term><term>Homme</term><term>Hérédodégénérescence spinocérébelleuse</term><term>Lévodopa</term><term>Parkinson maladie</term><term>Photon</term><term>Phénotype</term><term>Tomographie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. Magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin‐2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [99mTc]TRODAT‐1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness. © 2002 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Taïwan</li></country></list><tree><country name="Taïwan"><noRegion><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name></noRegion><name sortKey="Chang, Hsiu Hen" sort="Chang, Hsiu Hen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name><name sortKey="Chen, Rou Hayn" sort="Chen, Rou Hayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name><name sortKey="Tsai, Chon Aw" sort="Tsai, Chon Aw" uniqKey="Tsai C" first="Chon-Haw" last="Tsai">Chon-Haw Tsai</name><name sortKey="Wu Chou, Yah Uei" sort="Wu Chou, Yah Uei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name><name sortKey="Yen, Tzu Hen" sort="Yen, Tzu Hen" uniqKey="Yen T" first="Tzu-Chen" last="Yen">Tzu-Chen Yen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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