Genetic analysis in patients with familial and sporadic frontotemporal dementia: Two tau mutations in only familial cases and no association with apolipoprotein epsilon 4

We screened for tau gene mutations among 24 Japanese (6 familial and 18 spo radic cases) and 4 Polish patients with frontotemporal dementia (FTD) using PCR-SSCP analysis followed by DNA sequencing. We identified 2 missense mut ations 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 ex on 7, codon 176, G --> A) and 1 new (exon 8, codon 185, T --> C) were ident ified in 1 Polish patient. Tau mutations were not found in subjects with a negative family history suggesting that tau mutations do not account for mo st sporadic cases of FTD. We also found no association of apolipoprotein E4 allele with FTD. Copyright (C) 2001 S, Karger AG, Basel.