Increased frequency of positive family history of dementia in sporadic CJD.
OBJECTIVE
To analyze whether a positive family history of dementia (PFHD) is more common in sporadic CJD (sCJD) than in healthy/population controls and to study associated risk factors.


METHODS
Six hundred and eighty-five sCJD patients and 659 sex-/age-matched controls were included. A PFHD in parents/grandparents/siblings was evaluated. The PRNP M129V polymorphism and ApoE genotype in sCJD with/without PFHD were determined by PCR.


RESULTS
PFHD was found in 12.1% of sCJD patients and 5.6% of controls (p<0.001). No significant difference in M129V polymorphism was found between sCJD with and without PFHD. Thirty-six percent of sCJD patients with PFHD, 26% without PFHD and 19% of healthy controls had at least one ApoE4 allele. Compared to controls, ApoE4 allele frequency (p=0.005) and proportion of ApoE4 allele carriers (p=0.019) were significantly higher in sCJD with PFHD.


CONCLUSIONS
A higher frequency of the ApoE4 allele in sCJD with a PFHD could be indicative of an additional risk factor in CJD.
Krasnianski
Anna
A
National Reference Center for the Surveillance of TSE, Department of Neurology, Georg-August University Göttingen, Robert-Koch Str. 40, D-37075 Göttingen, Germany.
von Ahsen
Nicolas
N
Heinemann
Uta
U
Meissner
Bettina
B
Schulz-Schaeffer
Walter J
WJ
Kretzschmar
Hans A
HA
Armstrong
Victor W
VW
Zerr
Inga
I
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D053327:Apolipoprotein E4 / Q000235:genetics*; D001923:Brain Chemistry / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000453:epidemiology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors