Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.
Identifieur interne : 003A59 ( Ncbi/Merge ); précédent : 003A58; suivant : 003A60Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.
Auteurs : Annika Plate [Allemagne] ; Jens Benninghoff ; Gerald H. Jansen ; Elisabeth Wlasich ; Sabina Eigenbrod ; Alexander Drzezga ; Nathalie L. Jansen ; Hans A. Kretzschmar ; Kai Bötzel ; Dan Rujescu ; Adrian DanekSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- 14-3-3 Proteins (genetics), Amyloid beta-Peptides (cerebrospinal fluid), Antiparkinson Agents (therapeutic use), Codon (genetics), Dopamine Plasma Membrane Transport Proteins (genetics), Female, Gerstmann-Straussler-Scheinker Disease (genetics), Gerstmann-Straussler-Scheinker Disease (physiopathology), Gerstmann-Straussler-Scheinker Disease (psychology), Humans, Indoles (therapeutic use), Middle Aged, Mutation (genetics), Mutation (physiology), Nerve Growth Factors (genetics), Neuropsychological Tests, Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson Disease (psychology), Peptide Fragments (cerebrospinal fluid), Phosphopyruvate Hydratase (genetics), Polysomnography, Positron-Emission Tomography, Prions (genetics), Receptors, Dopamine D2 (metabolism), Receptors, Dopamine D3 (metabolism), S100 Calcium Binding Protein beta Subunit, S100 Proteins (genetics), tau Proteins (genetics).
- MESH :
- chemical , cerebrospinal fluid : Amyloid beta-Peptides, Peptide Fragments.
- chemical , genetics : 14-3-3 Proteins, Codon, Dopamine Plasma Membrane Transport Proteins, Nerve Growth Factors, Phosphopyruvate Hydratase, Prions, S100 Proteins, tau Proteins.
- chemical , metabolism : Receptors, Dopamine D2, Receptors, Dopamine D3.
- chemical , therapeutic use : Antiparkinson Agents, Indoles.
- genetics : Gerstmann-Straussler-Scheinker Disease, Mutation, Parkinson Disease.
- physiology : Mutation.
- physiopathology : Gerstmann-Straussler-Scheinker Disease, Parkinson Disease.
- psychology : Gerstmann-Straussler-Scheinker Disease, Parkinson Disease.
- Female, Humans, Middle Aged, Neuropsychological Tests, Polysomnography, Positron-Emission Tomography, S100 Calcium Binding Protein beta Subunit.
Abstract
Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.
DOI: 10.1002/mds.25188
PubMed: 23436635
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000A22
- to stream PubMed, to step Curation: 000A22
- to stream PubMed, to step Checkpoint: 000B07
Links to Exploration step
pubmed:23436635Le document en format XML
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<front><div type="abstract" xml:lang="en">Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.</div>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.</ArticleTitle>
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<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.</AbstractText>
<AbstractText Label="METHODS/RESULTS" NlmCategory="RESULTS">We report a 51-year old female who presented with left-dominant parkinsonism and a positive DaTSCAN. She was diagnosed with idiopathic Parkinson's syndrome. Dopaminergic medication reduced her symptoms. In addition, punding-like behavior, deficits in organizing daily life and abnormal sleep behavior were reported. Neuropsychological testing, EEG, polysomnography as well as PET imaging with fluorodexyglucose (FDG), [F-18]-desmethoxyfallypride (DMFP), and [C-11]-6-OH-BTA-1 (PIB) were not diagnostic. Cerebral spinal fluid analysis revealed no 14-3-3 protein, but elevated neuron-specific enolase (NSE) and S100-beta and a very low phospho-tau/total-tau ratio. Analysis of the prion gene disclosed the rare D202N mutation.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The D202N prion mutation has been associated with GSS pathology and up to now was only reported post mortem. Our patient is the very first case diagnosed in vivo.</AbstractText>
<CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation>
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<tree><noCountry><name sortKey="Benninghoff, Jens" sort="Benninghoff, Jens" uniqKey="Benninghoff J" first="Jens" last="Benninghoff">Jens Benninghoff</name>
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<name sortKey="Jansen, Gerald H" sort="Jansen, Gerald H" uniqKey="Jansen G" first="Gerald H" last="Jansen">Gerald H. Jansen</name>
<name sortKey="Jansen, Nathalie L" sort="Jansen, Nathalie L" uniqKey="Jansen N" first="Nathalie L" last="Jansen">Nathalie L. Jansen</name>
<name sortKey="Kretzschmar, Hans A" sort="Kretzschmar, Hans A" uniqKey="Kretzschmar H" first="Hans A" last="Kretzschmar">Hans A. Kretzschmar</name>
<name sortKey="Rujescu, Dan" sort="Rujescu, Dan" uniqKey="Rujescu D" first="Dan" last="Rujescu">Dan Rujescu</name>
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