HISTORY AND CLINICAL FINDINGS: A 66-year-old @entity1 with known remitting @entity308 episodes was admitted to a psychiatric hospital where a severe major @entity308 was diagnosed. The @entity1 failed to respond to SSRI medication. In addition, she developed a pronounced speech disturbance and @entity11583 . Therefore she was referred to the department of neurology 5 months after disease onset. She presented with a @entity76 . Because of a severe @entity4653 testing of cognitive functions were impossible. INVESTIGATIONS: 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 ( @entity70480 ) of the prion proteine gene. In addition, codon 129 was found homozygous for @entity4857 . TREATMENT AND COURSE: During the following 10 weeks the @entity1 developed @entity21 , @entity2045 and @entity2845 mutism. Complications were decubital ulcers and infections of the urinary tract. The @entity2045 slightly regressed following treatment with @entity1245 . The @entity1 died 9 months after disease onset. CONCLUSION: A rapid disease course and typical changes of surrogate markers in CSF may support the in-vivo diagnosis of @entity3605 despite incomplete clinical criteria (e. g. lack of @entity303 ). In such cases, detection of mutations by molecular genetic analysis is of importance to further support the diagnosis of @entity3605 .

[Clinically atypical XXXX : diagnostic relevance of cerebrospinal fluid markers and molecular genetic analysis?].

@entity1 :: ('9606', 'Species') :: ['woman', 'patient'] @entity308 :: ('MESH:D003866', 'Disease') :: ['depression', 'depressive'] @entity2045 :: ('MESH:D009207', 'Disease') :: ['myoclonus'] @entity303 :: ('MESH:D003704', 'Disease') :: ['dementia'] @entity3605 :: ('MESH:D007562', 'Disease') :: ['CJD'] @entity2845 :: ('MESH:D018476', 'Disease') :: ['akinetic'] @entity1245 :: ('MESH:D001569', 'Chemical') :: ['benzodiazepines'] @entity76 :: ('MESH:D002526', 'Disease') :: ['predominant cerebellar syndrome'] @entity70480 :: ('p|SUB|E|196|K', 'ProteinMutation') :: ['E196K'] @entity4857 :: ('CHEBI:27266', 'Chemical') :: ['valine'] @entity21 :: ('MESH:D001480', 'Disease') :: ['pyramidal and extrapyramidal signs'] @entity11583 :: ('MESH:D020234', 'Disease') :: ['gait ataxia'] @entity4653 :: ('MESH:D004401', 'Disease') :: ['dysarthria']
@entity3605 :: (MESH:D007562,Disease) :: ['CJD']
