A case of dementia with PRNP D178Ncis-129M and no insomnia.
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
The mutation D178N in the PRNP gene associated with the M129 genotype is usually associated with familial fatal insomnia. However, a few cases have been reported with different clinical phenotypes. Here, we describe one of these cases and stress the importance of genetic screening of PRNP in early onset dementia cases.
Guerreiro
Rita J
RJ
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA. portalegrer@nia.nih.gov
Vaskov
Tina
T
Crews
Cynthia
C
Singleton
Andrew
A
Hardy
John
J
D001216:Asparagine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D017354:Point Mutation; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D001224:Aspartic Acid; D001216:Asparagine