title: Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years.
abstract: BACKGROUND
  We report a female patient with familial Creutzfeldt-Jakob disease with V180I mutation (fCJD with V180I), who was serially followed up with magnetic resonance imaging (MRI) and electroencephalogram (EEG) for up to four years.
  
  
  METHODS
  At 6 months after the onset, diffusion-weighted images (DWI) and fluid-attenuated inversion recovery (FLAIR) of brain MRI revealed an increased signal intensity in the bilateral frontal, temporal, and parietal cerebral cortex with left dominancy except for the occipital lobe. However, her follow-up MRI at four years showed the high-signal regions spreading to the occipital cerebral cortex in DWI and FLAIR images, and bilateral frontal cerebral white matter in FLAIR images. EEG showed a progressive and general slow high-voltage rhythm from 7-8 to 3-5 c/s over four years, without evidence of periodic synchronous discharge. These findings correspond to the symptom progression even after akinetic mutism at 18 months.
  
  
  CONCLUSIONS
  We suggest that serial MRI and EEG examinations are useful for early diagnosis of fCJD with V180I and for monitoring disease progression.
authors.affiliation: Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, kitaku, Okayama 700-8558, Japan. degu@cc.okayama-u.ac.jp
authors.forename: Kentaro
authors.initials: K
authors.lastname: Deguchi
authors.forename: Motonori
authors.initials: M
authors.lastname: Takamiya
authors.forename: Shoko
authors.initials: S
authors.lastname: Deguchi
authors.forename: Nobutoshi
authors.initials: N
authors.lastname: Morimoto
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kurata
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Ikeda
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D011328:Prions / Q000235:genetics*
chemical_list: D011328:Prions