Increased incidence of genetic human prion disease in Hungary.
The authors performed analysis of the prion protein gene (PRNP) in 27 out of 109 confirmed prion disease patients between 1994 and 2004. E200K mutation was found in 17 cases. Another 10 patients, lacking PRNP analysis, showed positive family history. The mean annual incidence (0.27/million) and proportion (25.6%) of genetic prion disease is unusually high in Hungary and might be related to the migration of ancestors from the Slovakian focus.
Kovács
G G
GG
National Institute of Psychiatry and Neurology, Hungarian Reference Centre for Human Prion Disease, Budapest, Hungary. kovacsgg@opni.hu
László
L
L
Bakos
A
A
Minárovits
J
J
Bishop
M T
MT
Ströbel
T
T
Vajna
B
B
Mitrova
E
E
Majtényi
K
K
D000328:Adult; D000368:Aged; D000682:Amyloid / Q000235:genetics*; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D017096:Prion Diseases / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D018154:Slovakia / Q000208:ethnology
D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors