title: Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.
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.
  
  
  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.
authors: Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany.
authors: Annika
authors: A
authors: Plate
authors: Jens
authors: J
authors: Benninghoff
authors: Gerald H
authors: GH
authors: Jansen
authors: Elisabeth
authors: E
authors: Wlasich
authors: Sabina
authors: S
authors: Eigenbrod
authors: Alexander
authors: A
authors: Drzezga
authors: Nathalie L
authors: NL
authors: Jansen
authors: Hans A
authors: HA
authors: Kretzschmar
authors: Kai
authors: K
authors: Bötzel
authors: Dan
authors: D
authors: Rujescu
authors: Adrian
authors: A
authors: Danek
mesh_terms: D048948:14-3-3 Proteins / Q000235:genetics; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D000978:Antiparkinson Agents / Q000627:therapeutic use; D003062:Codon / Q000235:genetics; D050483:Dopamine Plasma Membrane Transport Proteins / Q000235:genetics; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D006801:Humans; D007211:Indoles / Q000627:therapeutic use; D008875:Middle Aged; D009154:Mutation / Q000235:genetics / Q000502:physiology*; D009414:Nerve Growth Factors / Q000235:genetics; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D010446:Peptide Fragments / Q000134:cerebrospinal fluid; D010751:Phosphopyruvate Hydratase / Q000235:genetics; D017286:Polysomnography; D049268:Positron-Emission Tomography; D011328:Prions / Q000235:genetics*; D017448:Receptors, Dopamine D2 / Q000378:metabolism; D050637:Receptors, Dopamine D3 / Q000378:metabolism; D064568:S100 Calcium Binding Protein beta Subunit; D009418:S100 Proteins / Q000235:genetics; D016875:tau Proteins / Q000235:genetics
chemical_list: D048948:14-3-3 Proteins; D016229:Amyloid beta-Peptides; D000978:Antiparkinson Agents; D003062:Codon; D050483:Dopamine Plasma Membrane Transport Proteins; D007211:Indoles; D009414:Nerve Growth Factors; D010446:Peptide Fragments; D011328:Prions; D017448:Receptors, Dopamine D2; D050637:Receptors, Dopamine D3; D064568:S100 Calcium Binding Protein beta Subunit; D009418:S100 Proteins; C579160:S100B protein, human; C075222:amyloid beta-protein (1-42); D016875:tau Proteins; C046649:ropinirole; D010751:Phosphopyruvate Hydratase