Spinocerebellar ataxia type 2 with levodopa‐responsive parkinsonism culminating in motor neuron disease
Identifieur interne : 003B26 ( Main/Exploration ); précédent : 003B25; suivant : 003B27Spinocerebellar ataxia type 2 with levodopa‐responsive parkinsonism culminating in motor neuron disease
Auteurs : Jon Infante [Espagne] ; José Berciano [Espagne] ; Victor Volpini [Espagne] ; Jordi Corral [Espagne] ; José Miguel Polo [Espagne] ; Julio Pascual [Espagne] ; Onofre Combarros [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-07.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- ALS, Alleles, Antiparkinson Agents (therapeutic use), Atrophy (pathology), Brain Stem (pathology), Female, Humans, Levodopa, Levodopa (therapeutic use), Magnetic Resonance Imaging, Middle Aged, Motor Neuron Disease (complications), Motor Neuron Disease (diagnosis), Motor Neuron Disease (genetics), Motor neuron disease, Nervous system diseases, Parkinsonian Disorders (complications), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonism, Pedigree, Phenotype, SCA2, Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, parkinsonism.
- MESH :
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- complications : Motor Neuron Disease, Parkinsonian Disorders, Spinocerebellar Ataxias.
- diagnosis : Motor Neuron Disease, Spinocerebellar Ataxias.
- drug therapy : Parkinsonian Disorders.
- genetics : Motor Neuron Disease, Parkinsonian Disorders, Spinocerebellar Ataxias.
- pathology : Atrophy, Brain Stem.
- Alleles, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Pedigree, Phenotype.
Abstract
We describe an exceptional spinocerebellar ataxia type 2 (SCA2) phenotype combining cerebellar ataxia, levodopa‐responsive parkinsonism, and motor neuron symptoms. We conclude that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre‐existing cerebellar and extrapyramidal semeiology. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20090
Affiliations:
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Le document en format XML
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<term>Brain Stem (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Levodopa</term>
<term>Levodopa (therapeutic use)</term>
<term>Magnetic Resonance Imaging</term>
<term>Middle Aged</term>
<term>Motor Neuron Disease (complications)</term>
<term>Motor Neuron Disease (diagnosis)</term>
<term>Motor Neuron Disease (genetics)</term>
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<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>SCA2</term>
<term>Spinocerebellar Ataxias (complications)</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar ataxia</term>
<term>parkinsonism</term>
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<term>Spinocerebellar Ataxias</term>
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<term>Spinocerebellar Ataxias</term>
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<term>Parkinsonian Disorders</term>
<term>Spinocerebellar Ataxias</term>
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<term>Neurone moteur maladie</term>
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<term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">We describe an exceptional spinocerebellar ataxia type 2 (SCA2) phenotype combining cerebellar ataxia, levodopa‐responsive parkinsonism, and motor neuron symptoms. We conclude that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre‐existing cerebellar and extrapyramidal semeiology. © 2004 Movement Disorder Society</div>
</front>
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<tree><country name="Espagne"><noRegion><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name>
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<name sortKey="Combarros, Onofre" sort="Combarros, Onofre" uniqKey="Combarros O" first="Onofre" last="Combarros">Onofre Combarros</name>
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