Focal dystonia as the presenting sign in Creutzfeldt-Jakob disease.
Identifieur interne : 000920 ( Ncbi/Curation ); précédent : 000919; suivant : 000921Focal dystonia as the presenting sign in Creutzfeldt-Jakob disease.
Auteurs : Mark A. Hellmann [Israël] ; Eldad MelamedSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Codon, Creutzfeldt-Jakob Syndrome (complications), Creutzfeldt-Jakob Syndrome (diagnosis), Creutzfeldt-Jakob Syndrome (genetics), DNA Mutational Analysis, Diagnosis, Differential, Dystonic Disorders (diagnosis), Dystonic Disorders (etiology), Female, Frontal Lobe (pathology), Humans, Magnetic Resonance Imaging, Middle Aged, Point Mutation (genetics), Severity of Illness Index.
- MESH :
- chemical : Codon.
- complications : Creutzfeldt-Jakob Syndrome.
- diagnosis : Creutzfeldt-Jakob Syndrome, Dystonic Disorders.
- etiology : Dystonic Disorders.
- genetics : Creutzfeldt-Jakob Syndrome, Point Mutation.
- pathology : Frontal Lobe.
- DNA Mutational Analysis, Diagnosis, Differential, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Severity of Illness Index.
Abstract
A variety of movement disorders may occur during the course of prion disease. We describe a unique patient who had focal upper limb dystonia as the presenting symptom of familial codon 200 mutation-positive Creutzfeldt-Jakob disease.
DOI: 10.1002/mds.10232
PubMed: 12360570
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pubmed:12360570Le document en format XML
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<author><name sortKey="Hellmann, Mark A" sort="Hellmann, Mark A" uniqKey="Hellmann M" first="Mark A" last="Hellmann">Mark A. Hellmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Rabin Medical Centre, Beilinson Campus and Tel Aviv University School of Medicine, Petah Tiqva, Israel.</nlm:affiliation>
<country xml:lang="fr">Israël</country>
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<author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Focal dystonia as the presenting sign in Creutzfeldt-Jakob disease.</title>
<author><name sortKey="Hellmann, Mark A" sort="Hellmann, Mark A" uniqKey="Hellmann M" first="Mark A" last="Hellmann">Mark A. Hellmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Rabin Medical Centre, Beilinson Campus and Tel Aviv University School of Medicine, Petah Tiqva, Israel.</nlm:affiliation>
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<term>Creutzfeldt-Jakob Syndrome (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (etiology)</term>
<term>Female</term>
<term>Frontal Lobe (pathology)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Middle Aged</term>
<term>Point Mutation (genetics)</term>
<term>Severity of Illness Index</term>
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<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Creutzfeldt-Jakob Syndrome</term>
<term>Dystonic Disorders</term>
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<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
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<front><div type="abstract" xml:lang="en">A variety of movement disorders may occur during the course of prion disease. We describe a unique patient who had focal upper limb dystonia as the presenting symptom of familial codon 200 mutation-positive Creutzfeldt-Jakob disease.</div>
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