title: [Clinically atypical CJD: diagnostic relevance of cerebrospinal fluid markers and molecular genetic analysis?].
abstract: METHODS
  A 66-year-old woman with known remitting depressive episodes was admitted to a psychiatric hospital where a severe major depression was diagnosed. The patient failed to respond to SSRI medication. In addition, she developed a pronounced speech disturbance and gait ataxia. Therefore she was referred to the department of neurology 5 months after disease onset. She presented with a predominant cerebellar syndrome. Because of a severe dysarthria testing of cognitive functions were impossible.
  
  
  METHODS
  EEG revealed a general slowing of the basic activity. Periodic sharp wave complexes were not seen during the entire disease course. Cerebrospinal fluid analysis (CSF) was normal with regard to cell count and blood-csf-barrier function. 14- 3-3 proteins were detected in CSF, and CSF levels of tau-protein and neuron-specific enolase were strongly elevated. A point mutation was detected at codon 196 (E196K) of the prion proteine gene. In addition, codon 129 was found homozygous for valine.
  
  
  METHODS
  During the following 10 weeks the patient developed pyramidal and extrapyramidal signs, myoclonus and akinetic mutism. Complications were decubital ulcers and infections of the urinary tract. The myoclonus slightly regressed following treatment with benzodiazepines. The patient died 9 months after disease onset.
  
  
  CONCLUSIONS
  A rapid disease course and typical changes of surrogate markers in CSF may support the in-vivo diagnosis of CJD despite incomplete clinical criteria (e. g. lack of dementia). In such cases, detection of mutations by molecular genetic analysis is of importance to further support the diagnosis of CJD.
authors.affiliation: Abteilung für Neurologie im RKU, Universität Ulm, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Tumani
authors.forename: O
authors.initials: O
authors.lastname: Windl
authors.forename: H A
authors.initials: HA
authors.lastname: Kretzschmar
authors.forename: A C
authors.initials: AC
authors.lastname: Ludolph
mesh_terms: D000368:Aged; D000483:Alleles; D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D010751:Phosphopyruvate Hydratase / Q000134:cerebrospinal fluid; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011328:Prions / Q000235:genetics; D014633:Valine / Q000235:genetics; D016875:tau Proteins / Q000138:chemical synthesis
chemical_list: D003062:Codon; D011328:Prions; D016875:tau Proteins; D010751:Phosphopyruvate Hydratase; D014633:Valine