Abstract | 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. METHODS/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. 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.
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Authors | Annika Plate, Jens Benninghoff, Gerald H Jansen, Elisabeth Wlasich, Sabina Eigenbrod, Alexander Drzezga, Nathalie L Jansen, Hans A Kretzschmar, Kai Bötzel, Dan Rujescu, Adrian Danek |
Journal | Movement disorders : official journal of the Movement Disorder Society
(Mov Disord)
Vol. 28
Issue 2
Pg. 241-4
(Feb 2013)
ISSN: 1531-8257 [Electronic] United States |
PMID | 23436635
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2013 Movement Disorder Society. |
Chemical References |
- 14-3-3 Proteins
- Amyloid beta-Peptides
- Antiparkinson Agents
- Codon
- Dopamine Plasma Membrane Transport Proteins
- Indoles
- Nerve Growth Factors
- Peptide Fragments
- Prions
- Receptors, Dopamine D2
- Receptors, Dopamine D3
- S100 Calcium Binding Protein beta Subunit
- S100 Proteins
- S100B protein, human
- amyloid beta-protein (1-42)
- tau Proteins
- ropinirole
- Phosphopyruvate Hydratase
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Topics |
- 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, physiopathology, psychology)
- Humans
- Indoles
(therapeutic use)
- Middle Aged
- Mutation
(genetics, physiology)
- Nerve Growth Factors
(genetics)
- Neuropsychological Tests
- Parkinson Disease
(genetics, physiopathology, 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)
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