Abstract：
BACKGROUND/AIMS:Since detection of the prion protein gene (PRNP) more than 30 mutations have been discovered. Some have only been found in single case reports without known intrafamilial accumulation or neuropathological proof so that the causal connection between mutation and disease could not be proved. Those patients often present atypical clinical phenotypes, and it is not unusual that they are classified as diseases other than Creutzfeldt-Jakob disease (CJD). METHODS:Cases of suspected CJD have been reported to the national reference center for prion diseases. Clinical and diagnostic data were collected, and a classification of definite, possible or probable prion disease was made. Molecular analysis of PRNP was performed by capillary sequencing. RESULTS:We have described 4 cases with atypical clinical and diagnostic findings and unknown mutations in PRNP so far. CONCLUSION:Three patients fulfilled the criteria of probable CJD, and 1 patient fulfilled the criteria of possible CJD but the clinical picture in none of the patients was typical CJD; hence, it remained questionable whether the mutations were causal of the disease.
journal_name
Dement Geriatr Cogn Disordjournal_title
Dementia and geriatric cognitive disordersauthors
Schelzke G,Stoeck K,Eigenbrod S,Grasbon-Frodl E,Raddatz LM,Ponto C,Kretzschmar HA,Zerr Idoi
10.1159/000345991subject
Has Abstractpub_date
2013-01-01 00:00:00pages
229-37issue
3-4eissn
1420-8008issn
1421-9824pii
000345991journal_volume
35pub_type
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journal_title：Dementia and geriatric cognitive disorders
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