Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4.
We screened for tau gene mutations among 24 Japanese (6 familial and 18 sporadic cases) and 4 Polish patients with frontotemporal dementia (FTD) using PCR-SSCP analysis followed by DNA sequencing. We identified 2 missense mutations in exon 10: N279K and P301L in 2 Japanese patients with familial FTD. Additionally 3 DNA polymorphisms: 2 known (3' exon 3 + 9, A --> G and exon 7, codon 176, G --> A) and 1 new (exon 8, codon 185, T --> C) were identified in 1 Polish patient. Tau mutations were not found in subjects with a negative family history suggesting that tau mutations do not account for most sporadic cases of FTD. We also found no association of apolipoprotein E4 allele with FTD.
Kowalska
A
A
Department of Demyelinating Disease and Aging, National Institute of Neuroscience, NCNP, Tokyo, Japan. annkowal@rose.man.poznan.pl
Asada
T
T
Arima
K
K
Kumakiri
C
C
Kozubski
W
W
Takahashi
K
K
Tabira
T
T
D000368:Aged; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D017931:DNA Primers; D003704:Dementia / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007564:Japan / Q000208:ethnology; D008297:Male; D020125:Mutation, Missense; D011044:Poland / Q000208:ethnology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D016875:tau Proteins / Q000235:genetics*
D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D017931:DNA Primers; D016875:tau Proteins