Mar 20, 2001

Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia

Archives of Neurology
P PoorkajT D Bird


Mutations in the tau gene have been reported in families with frontotemporal dementia (FTD) linked to chromosome 17. It remains uncertain how commonly such mutations are found in patients with FTD or non-Alzheimer dementia with or without a positive family history. To determine the frequency of tau mutations in patients with non-Alzheimer dementia. One hundred one patients with non-Alzheimer, nonvascular dementia, most thought to have FTD. Of these, 57 had a positive family history of dementia. Neuropathologic findings were available in 32. The tau gene was sequenced for all exons including flanking intronic DNA, portions of the 3' and 5' untranslated regions, and at least 146 base pairs in the intron following exon 10. Overall, the frequency of the tau mutations was low, being 5.9% (6/101) in the entire group. No mutations were found in the 44 sporadic cases. However, 6 (10.5%) of the 57 familial cases and 4 (33%) of the 12 familial cases with tau pathologic findings had mutations in the tau gene. The most common mutation was P301L. We conclude that tau mutations are uncommon in a neurology referral population with non-Alzheimer dementia, even in those with a clinical diagnosis of FTD. However, a positive family history and/or...Continue Reading

  • References
  • Citations56


  • We're still populating references for this paper, please check back later.

Mentioned in this Paper

Senile Paranoid Dementia
Family Health Status
5' Untranslated Regions
Gene Mutation
Alzheimer's Disease
Oligonucleotide Primers
Tau Proteins
Chromosomes, Human, Pair 17
Base Pairing

Related Feeds


ALS shares with a considerable proportion of FTD cases the same neuropathological substrate, namely, inclusions of abnormally phosphorylated protein tdp-43 (ptdp-43). Here are the latest discoveries pertaining to ptdp-43 and these diseases.

Alzheimer's Disease: Tau & TDP-43

Alzheimer's disease is a chronic neurodegenerative disease. This feed focuses on the underlying role of Tau proteins and TAR DNA-binding protein 43, as well as other genetic factors, in Alzheimer's.