Serveur d'exploration sur le patient édenté

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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 : 007915

SCA2 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 :

RBID : ISTEX:60163DD9E3887A992F60E772EFEFFCCE890DA0E7

Descripteurs français

English descriptors

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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Le document en format XML

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<title xml:lang="en">SCA2 presenting as levodopa‐responsive parkinsonism in a young patient from the United Kingdom: A case report</title>
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<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>
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<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>
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<term>Neurologie</term>
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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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<name sortKey="Wilkins, Alastair" sort="Wilkins, Alastair" uniqKey="Wilkins A" first="Alastair" last="Wilkins">Alastair Wilkins</name>
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