Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.
Identifieur interne : 000A96 ( Main/Exploration ); précédent : 000A95; suivant : 000A97Atypical 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
Affiliations:
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Le document en format XML
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Jansen</name></author><author><name sortKey="Wlasich, Elisabeth" sort="Wlasich, Elisabeth" uniqKey="Wlasich E" first="Elisabeth" last="Wlasich">Elisabeth Wlasich</name></author><author><name sortKey="Eigenbrod, Sabina" sort="Eigenbrod, Sabina" uniqKey="Eigenbrod S" first="Sabina" last="Eigenbrod">Sabina Eigenbrod</name></author><author><name sortKey="Drzezga, Alexander" sort="Drzezga, Alexander" uniqKey="Drzezga A" first="Alexander" last="Drzezga">Alexander Drzezga</name></author><author><name sortKey="Jansen, Nathalie L" sort="Jansen, Nathalie L" uniqKey="Jansen N" first="Nathalie L" last="Jansen">Nathalie L. Jansen</name></author><author><name sortKey="Kretzschmar, Hans A" sort="Kretzschmar, Hans A" uniqKey="Kretzschmar H" first="Hans A" last="Kretzschmar">Hans A. 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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><name sortKey="Wlasich, Elisabeth" sort="Wlasich, Elisabeth" uniqKey="Wlasich E" first="Elisabeth" last="Wlasich">Elisabeth Wlasich</name></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Plate, Annika" sort="Plate, Annika" uniqKey="Plate A" first="Annika" last="Plate">Annika Plate</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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