Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.
Identifieur interne : 000907 ( Ncbi/Curation ); précédent : 000906; suivant : 000908Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.
Auteurs : Chin-Song Lu [Taïwan] ; Yah-Huei Wu Chou ; Tzu-Chen Yen ; Chon-Haw Tsai ; Rou-Shayn Chen ; Hsiu-Chen ChangSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Aged, Atrophy (pathology), Cerebellum (pathology), Corpus Striatum (pathology), Corpus Striatum (physiopathology), Dopamine Agonists (therapeutic use), Genotype, Humans, Levodopa (therapeutic use), Magnetic Resonance Imaging, Male, Middle Aged, Organotechnetium Compounds (diagnostic use), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Pedigree, Pons (pathology), Radiopharmaceuticals (diagnostic use), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology), Spinocerebellar Ataxias (physiopathology), Substantia Nigra (pathology), Substantia Nigra (physiopathology), Tomography, Emission-Computed, Single-Photon, Tropanes (diagnostic use).
- 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 [(99m)Tc]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.
DOI: 10.1002/mds.10243
PubMed: 12360557
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pubmed:12360557Le document en format XML
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<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan. c81214@adm.cgmh.org.tw</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University</wicri:regionArea>
<wicri:noRegion>Chang Gung University</wicri:noRegion>
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<author><name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name>
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<author><name sortKey="Yen, Tzu Chen" sort="Yen, Tzu Chen" uniqKey="Yen T" first="Tzu-Chen" last="Yen">Tzu-Chen Yen</name>
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<author><name sortKey="Tsai, Chon Haw" sort="Tsai, Chon Haw" uniqKey="Tsai C" first="Chon-Haw" last="Tsai">Chon-Haw Tsai</name>
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<author><name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
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<author><name sortKey="Chang, Hsiu Chen" sort="Chang, Hsiu Chen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name>
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<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan. c81214@adm.cgmh.org.tw</nlm:affiliation>
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<author><name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name>
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<author><name sortKey="Yen, Tzu Chen" sort="Yen, Tzu Chen" uniqKey="Yen T" first="Tzu-Chen" last="Yen">Tzu-Chen Yen</name>
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<author><name sortKey="Tsai, Chon Haw" sort="Tsai, Chon Haw" uniqKey="Tsai C" first="Chon-Haw" last="Tsai">Chon-Haw Tsai</name>
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<author><name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
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<author><name sortKey="Chang, Hsiu Chen" sort="Chang, Hsiu Chen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name>
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<term>Cerebellum (pathology)</term>
<term>Corpus Striatum (pathology)</term>
<term>Corpus Striatum (physiopathology)</term>
<term>Dopamine Agonists (therapeutic use)</term>
<term>Genotype</term>
<term>Humans</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>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonian Disorders (pathology)</term>
<term>Pedigree</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>Substantia Nigra (pathology)</term>
<term>Substantia Nigra (physiopathology)</term>
<term>Tomography, Emission-Computed, Single-Photon</term>
<term>Tropanes (diagnostic use)</term>
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<term>Radiopharmaceuticals</term>
<term>Tropanes</term>
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<term>Levodopa</term>
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<term>Corpus Striatum</term>
<term>Parkinsonian Disorders</term>
<term>Pons</term>
<term>Spinocerebellar Ataxias</term>
<term>Substantia Nigra</term>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Corpus Striatum</term>
<term>Spinocerebellar Ataxias</term>
<term>Substantia Nigra</term>
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<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>
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<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 [(99m)Tc]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.</div>
</front>
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