SCA2 presenting as levodopa‐responsive parkinsonism in a young patient from the United Kingdom: A case report
Identifieur interne : 007914 ( Main/Exploration ); précédent : 007913; suivant : 007915SCA2 presenting as levodopa‐responsive parkinsonism in a young patient from the United Kingdom: A case report
Auteurs : Alastair Wilkins [Royaume-Uni] ; Jerry M. Brown [Royaume-Uni] ; Roger A. Barker [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-05.
Descripteurs français
- Wicri :
- topic : Neurologie.
English descriptors
- KwdEn :
- Abnormal, Abnormal activity, Abnormal movements, Acta, Acta neuropathol, Allele, Anterocollis, Ataxia, Atrophy, Autosomal, Axial right, Basal, Basal ganglia, Biceps brachii, Bilateral, Bilateral stimulation, Bilaterally, Botox, Botulinum, Botulinum toxin, Botulinum toxin type, Bradykinesia, Case report, Caudate, Caudate nucleus, Cerebellar, Cerebellar ataxia, Cervical, Cervical dystonia, Chorea, Choreic movements, Choreiform, Choreiform movements, Clinical features, Clinical outcome, Cogwheel rigidity, Colli, Contralateral, Cyclohydrolase, Deep brain stimulation, Degenerative ataxias, Dentatorubral, Dentatorubral pallidoluysian atrophy, Disord, Disorder, Dopamine, Drpla, Dyskinesia, Dystonia, Dystonic, Dystonic posture, Extrapyramidal, Familial cases, Family history, Ganglion, Genet, Genetic studies, Globus, Globus pallidum, Globus pallidus, Globus pallidus internus, Hereditary, Imaging, Inclusion, Interscience, Intramuscular, Intranuclear, Intranuclear inclusions, Involuntary movements, Jerk, Lancet, Longus, Longus colli, Magnetic resonance imaging, Moderate improvement, Movement disorder society, Movement disorders, Mutant, Mutation, Myoclonus, Nding, Ndings, Neurol, Neurol neurosurg psychiatry, Neurological, Neurology, Neuron, Neuronal, Neuropathological, Neuropathological features, Neurosurg, Normal values, October, Online, Oromandibular dystonia, Pallidal, Pallidal stimulation, Pallidoluysian, Pallidum, Pallidus, Parkinsonism, Perfusion, Phenotype, Propriospinal, Propriospinal myoclonus, Puncture site, Putamen, Radcliffe oxford, Rectus, Rectus abdominis, Rectus femoris, Right longus colli muscle, Rinsho shinkeigaku, Sca1, Sca2, Sca2 allele, Senile chorea, Several years, Severe anterocollis, Side effects, Single photon emission tomography, Spasmodic torticollis, Spet, Spinal, Spinocerebellar, Spinocerebellar ataxia, Spinocerebellar ataxia type, Sporadic case, Sporadic cases, Sternocleidomastoid, Sternocleidomastoid muscle, Sternocleidomastoid muscles, Sternocleidomastoideus, Stimulation, Stimulator, Subthalamic, Subthalamic nucleus, Symptom, Tardive, Tardive dyskinesia, Thalamic, Thalamic stimulation, Thalamus, Tohoku university school, Tomography, Torticollis, Toxin, Tremor, Trinucleotide, Trinucleotide expansion, Unilateral stimulation, Ventralis oralis, Video, Video segment, Videotape, Wiley interscience.
- Teeft :
- Abnormal, Abnormal activity, Abnormal movements, Acta, Acta neuropathol, Allele, Anterocollis, Ataxia, Atrophy, Autosomal, Axial right, Basal, Basal ganglia, Biceps brachii, Bilateral, Bilateral stimulation, Bilaterally, Botox, Botulinum, Botulinum toxin, Botulinum toxin type, Bradykinesia, Case report, Caudate, Caudate nucleus, Cerebellar, Cerebellar ataxia, Cervical, Cervical dystonia, Chorea, Choreic movements, Choreiform, Choreiform movements, Clinical features, Clinical outcome, Cogwheel rigidity, Colli, Contralateral, Cyclohydrolase, Deep brain stimulation, Degenerative ataxias, Dentatorubral, Dentatorubral pallidoluysian atrophy, Disord, Disorder, Dopamine, Drpla, Dyskinesia, Dystonia, Dystonic, Dystonic posture, Extrapyramidal, Familial cases, Family history, Ganglion, Genet, Genetic studies, Globus, Globus pallidum, Globus pallidus, Globus pallidus internus, Hereditary, Imaging, Inclusion, Interscience, Intramuscular, Intranuclear, Intranuclear inclusions, Involuntary movements, Jerk, Lancet, Longus, Longus colli, Magnetic resonance imaging, Moderate improvement, Movement disorder society, Movement disorders, Mutant, Mutation, Myoclonus, Nding, Ndings, Neurol, Neurol neurosurg psychiatry, Neurological, Neurology, Neuron, Neuronal, Neuropathological, Neuropathological features, Neurosurg, Normal values, October, Online, Oromandibular dystonia, Pallidal, Pallidal stimulation, Pallidoluysian, Pallidum, Pallidus, Parkinsonism, Perfusion, Phenotype, Propriospinal, Propriospinal myoclonus, Puncture site, Putamen, Radcliffe oxford, Rectus, Rectus abdominis, Rectus femoris, Right longus colli muscle, Rinsho shinkeigaku, Sca1, Sca2, Sca2 allele, Senile chorea, Several years, Severe anterocollis, Side effects, Single photon emission tomography, Spasmodic torticollis, Spet, Spinal, Spinocerebellar, Spinocerebellar ataxia, Spinocerebellar ataxia type, Sporadic case, Sporadic cases, Sternocleidomastoid, Sternocleidomastoid muscle, Sternocleidomastoid muscles, Sternocleidomastoideus, Stimulation, Stimulator, Subthalamic, Subthalamic nucleus, Symptom, Tardive, Tardive dyskinesia, Thalamic, Thalamic stimulation, Thalamus, Tohoku university school, Tomography, Torticollis, Toxin, Tremor, Trinucleotide, Trinucleotide expansion, Unilateral stimulation, Ventralis oralis, Video, Video segment, Videotape, Wiley interscience.
Abstract
We report on a young woman from the United Kingdom with L‐dopa–responsive parkinsonism with a trinucleotide repeat expansion in her spinocerebellar ataxia 2 (SCA2) gene. The case further extends the phenotype of SCA2 and emphasizes the importance of SCA screening in young‐onset parkinsonism, irrespective of ethnic origin. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.10715
Affiliations:
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormal</term>
<term>Abnormal activity</term>
<term>Abnormal movements</term>
<term>Acta</term>
<term>Acta neuropathol</term>
<term>Allele</term>
<term>Anterocollis</term>
<term>Ataxia</term>
<term>Atrophy</term>
<term>Autosomal</term>
<term>Axial right</term>
<term>Basal</term>
<term>Basal ganglia</term>
<term>Biceps brachii</term>
<term>Bilateral</term>
<term>Bilateral stimulation</term>
<term>Bilaterally</term>
<term>Botox</term>
<term>Botulinum</term>
<term>Botulinum toxin</term>
<term>Botulinum toxin type</term>
<term>Bradykinesia</term>
<term>Case report</term>
<term>Caudate</term>
<term>Caudate nucleus</term>
<term>Cerebellar</term>
<term>Cerebellar ataxia</term>
<term>Cervical</term>
<term>Cervical dystonia</term>
<term>Chorea</term>
<term>Choreic movements</term>
<term>Choreiform</term>
<term>Choreiform movements</term>
<term>Clinical features</term>
<term>Clinical outcome</term>
<term>Cogwheel rigidity</term>
<term>Colli</term>
<term>Contralateral</term>
<term>Cyclohydrolase</term>
<term>Deep brain stimulation</term>
<term>Degenerative ataxias</term>
<term>Dentatorubral</term>
<term>Dentatorubral pallidoluysian atrophy</term>
<term>Disord</term>
<term>Disorder</term>
<term>Dopamine</term>
<term>Drpla</term>
<term>Dyskinesia</term>
<term>Dystonia</term>
<term>Dystonic</term>
<term>Dystonic posture</term>
<term>Extrapyramidal</term>
<term>Familial cases</term>
<term>Family history</term>
<term>Ganglion</term>
<term>Genet</term>
<term>Genetic studies</term>
<term>Globus</term>
<term>Globus pallidum</term>
<term>Globus pallidus</term>
<term>Globus pallidus internus</term>
<term>Hereditary</term>
<term>Imaging</term>
<term>Inclusion</term>
<term>Interscience</term>
<term>Intramuscular</term>
<term>Intranuclear</term>
<term>Intranuclear inclusions</term>
<term>Involuntary movements</term>
<term>Jerk</term>
<term>Lancet</term>
<term>Longus</term>
<term>Longus colli</term>
<term>Magnetic resonance imaging</term>
<term>Moderate improvement</term>
<term>Movement disorder society</term>
<term>Movement disorders</term>
<term>Mutant</term>
<term>Mutation</term>
<term>Myoclonus</term>
<term>Nding</term>
<term>Ndings</term>
<term>Neurol</term>
<term>Neurol neurosurg psychiatry</term>
<term>Neurological</term>
<term>Neurology</term>
<term>Neuron</term>
<term>Neuronal</term>
<term>Neuropathological</term>
<term>Neuropathological features</term>
<term>Neurosurg</term>
<term>Normal values</term>
<term>October</term>
<term>Online</term>
<term>Oromandibular dystonia</term>
<term>Pallidal</term>
<term>Pallidal stimulation</term>
<term>Pallidoluysian</term>
<term>Pallidum</term>
<term>Pallidus</term>
<term>Parkinsonism</term>
<term>Perfusion</term>
<term>Phenotype</term>
<term>Propriospinal</term>
<term>Propriospinal myoclonus</term>
<term>Puncture site</term>
<term>Putamen</term>
<term>Radcliffe oxford</term>
<term>Rectus</term>
<term>Rectus abdominis</term>
<term>Rectus femoris</term>
<term>Right longus colli muscle</term>
<term>Rinsho shinkeigaku</term>
<term>Sca1</term>
<term>Sca2</term>
<term>Sca2 allele</term>
<term>Senile chorea</term>
<term>Several years</term>
<term>Severe anterocollis</term>
<term>Side effects</term>
<term>Single photon emission tomography</term>
<term>Spasmodic torticollis</term>
<term>Spet</term>
<term>Spinal</term>
<term>Spinocerebellar</term>
<term>Spinocerebellar ataxia</term>
<term>Spinocerebellar ataxia type</term>
<term>Sporadic case</term>
<term>Sporadic cases</term>
<term>Sternocleidomastoid</term>
<term>Sternocleidomastoid muscle</term>
<term>Sternocleidomastoid muscles</term>
<term>Sternocleidomastoideus</term>
<term>Stimulation</term>
<term>Stimulator</term>
<term>Subthalamic</term>
<term>Subthalamic nucleus</term>
<term>Symptom</term>
<term>Tardive</term>
<term>Tardive dyskinesia</term>
<term>Thalamic</term>
<term>Thalamic stimulation</term>
<term>Thalamus</term>
<term>Tohoku university school</term>
<term>Tomography</term>
<term>Torticollis</term>
<term>Toxin</term>
<term>Tremor</term>
<term>Trinucleotide</term>
<term>Trinucleotide expansion</term>
<term>Unilateral stimulation</term>
<term>Ventralis oralis</term>
<term>Video</term>
<term>Video segment</term>
<term>Videotape</term>
<term>Wiley interscience</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Abnormal</term>
<term>Abnormal activity</term>
<term>Abnormal movements</term>
<term>Acta</term>
<term>Acta neuropathol</term>
<term>Allele</term>
<term>Anterocollis</term>
<term>Ataxia</term>
<term>Atrophy</term>
<term>Autosomal</term>
<term>Axial right</term>
<term>Basal</term>
<term>Basal ganglia</term>
<term>Biceps brachii</term>
<term>Bilateral</term>
<term>Bilateral stimulation</term>
<term>Bilaterally</term>
<term>Botox</term>
<term>Botulinum</term>
<term>Botulinum toxin</term>
<term>Botulinum toxin type</term>
<term>Bradykinesia</term>
<term>Case report</term>
<term>Caudate</term>
<term>Caudate nucleus</term>
<term>Cerebellar</term>
<term>Cerebellar ataxia</term>
<term>Cervical</term>
<term>Cervical dystonia</term>
<term>Chorea</term>
<term>Choreic movements</term>
<term>Choreiform</term>
<term>Choreiform movements</term>
<term>Clinical features</term>
<term>Clinical outcome</term>
<term>Cogwheel rigidity</term>
<term>Colli</term>
<term>Contralateral</term>
<term>Cyclohydrolase</term>
<term>Deep brain stimulation</term>
<term>Degenerative ataxias</term>
<term>Dentatorubral</term>
<term>Dentatorubral pallidoluysian atrophy</term>
<term>Disord</term>
<term>Disorder</term>
<term>Dopamine</term>
<term>Drpla</term>
<term>Dyskinesia</term>
<term>Dystonia</term>
<term>Dystonic</term>
<term>Dystonic posture</term>
<term>Extrapyramidal</term>
<term>Familial cases</term>
<term>Family history</term>
<term>Ganglion</term>
<term>Genet</term>
<term>Genetic studies</term>
<term>Globus</term>
<term>Globus pallidum</term>
<term>Globus pallidus</term>
<term>Globus pallidus internus</term>
<term>Hereditary</term>
<term>Imaging</term>
<term>Inclusion</term>
<term>Interscience</term>
<term>Intramuscular</term>
<term>Intranuclear</term>
<term>Intranuclear inclusions</term>
<term>Involuntary movements</term>
<term>Jerk</term>
<term>Lancet</term>
<term>Longus</term>
<term>Longus colli</term>
<term>Magnetic resonance imaging</term>
<term>Moderate improvement</term>
<term>Movement disorder society</term>
<term>Movement disorders</term>
<term>Mutant</term>
<term>Mutation</term>
<term>Myoclonus</term>
<term>Nding</term>
<term>Ndings</term>
<term>Neurol</term>
<term>Neurol neurosurg psychiatry</term>
<term>Neurological</term>
<term>Neurology</term>
<term>Neuron</term>
<term>Neuronal</term>
<term>Neuropathological</term>
<term>Neuropathological features</term>
<term>Neurosurg</term>
<term>Normal values</term>
<term>October</term>
<term>Online</term>
<term>Oromandibular dystonia</term>
<term>Pallidal</term>
<term>Pallidal stimulation</term>
<term>Pallidoluysian</term>
<term>Pallidum</term>
<term>Pallidus</term>
<term>Parkinsonism</term>
<term>Perfusion</term>
<term>Phenotype</term>
<term>Propriospinal</term>
<term>Propriospinal myoclonus</term>
<term>Puncture site</term>
<term>Putamen</term>
<term>Radcliffe oxford</term>
<term>Rectus</term>
<term>Rectus abdominis</term>
<term>Rectus femoris</term>
<term>Right longus colli muscle</term>
<term>Rinsho shinkeigaku</term>
<term>Sca1</term>
<term>Sca2</term>
<term>Sca2 allele</term>
<term>Senile chorea</term>
<term>Several years</term>
<term>Severe anterocollis</term>
<term>Side effects</term>
<term>Single photon emission tomography</term>
<term>Spasmodic torticollis</term>
<term>Spet</term>
<term>Spinal</term>
<term>Spinocerebellar</term>
<term>Spinocerebellar ataxia</term>
<term>Spinocerebellar ataxia type</term>
<term>Sporadic case</term>
<term>Sporadic cases</term>
<term>Sternocleidomastoid</term>
<term>Sternocleidomastoid muscle</term>
<term>Sternocleidomastoid muscles</term>
<term>Sternocleidomastoideus</term>
<term>Stimulation</term>
<term>Stimulator</term>
<term>Subthalamic</term>
<term>Subthalamic nucleus</term>
<term>Symptom</term>
<term>Tardive</term>
<term>Tardive dyskinesia</term>
<term>Thalamic</term>
<term>Thalamic stimulation</term>
<term>Thalamus</term>
<term>Tohoku university school</term>
<term>Tomography</term>
<term>Torticollis</term>
<term>Toxin</term>
<term>Tremor</term>
<term>Trinucleotide</term>
<term>Trinucleotide expansion</term>
<term>Unilateral stimulation</term>
<term>Ventralis oralis</term>
<term>Video</term>
<term>Video segment</term>
<term>Videotape</term>
<term>Wiley interscience</term>
</keywords>
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<front><div type="abstract" xml:lang="en">We report on a young woman from the United Kingdom with L‐dopa–responsive parkinsonism with a trinucleotide repeat expansion in her spinocerebellar ataxia 2 (SCA2) gene. The case further extends the phenotype of SCA2 and emphasizes the importance of SCA screening in young‐onset parkinsonism, irrespective of ethnic origin. © 2004 Movement Disorder Society</div>
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<tree><country name="Royaume-Uni"><noRegion><name sortKey="Wilkins, Alastair" sort="Wilkins, Alastair" uniqKey="Wilkins A" first="Alastair" last="Wilkins">Alastair Wilkins</name>
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<name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A." last="Barker">Roger A. Barker</name>
<name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A." last="Barker">Roger A. Barker</name>
<name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A." last="Barker">Roger A. Barker</name>
<name sortKey="Brown, Jerry M" sort="Brown, Jerry M" uniqKey="Brown J" first="Jerry M." last="Brown">Jerry M. Brown</name>
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