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OBJECTIVE To describe a dementia case clinically diagnosed as Alzheimer disease with a PRNP genotype usually associated with familial fatal insomnia. METHODS Polymerase chain reaction amplification and subsequent direct sequencing of PGRN, MAPT, PSEN1, PSEN2, APP, and PRNP genes. RESULTS A point mutation (D178N) was found in the PRNP gene. CONCLUSIONS(More)
The aim of the study was to determine the possible relationship between different clinical and EEG features and executive functions in patients with juvenile myoclonic epilepsy (JME), i.e. to determine if sex, age, duration, absences, clinical asymmetric seizures, asymmetry or focality in epileptiform activity in EEG, EEG slow activity and familiar(More)
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