No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.
Given the remarkable similarities between the genetics of tau diseases and the genetics of alpha-synuclein diseases, and given the fact that we have recently found a triplication of the alpha-synuclein locus in a family in which we had shown linkage to the alpha-synuclein locus, we determined to test whether some of the several families with autosomal dominant frontal temporal dementia which show genetic linkage to the tau locus but in which tau mutations have not been found could be caused by similar structural mutations. We did not find any such mutations.
Johnson
Janel
J
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 10, Room 6C103, MSC1589, Bethesda, MD 20892, USA.
Ostojic
Jovanka
J
Lannfelt
Lars
L
Glaser
Anna
A
Basun
Hans
H
Rogaeva
Ekaterina
E
Kawarai
Toshitaka
T
Bruni
Amalia
A
St  George Hyslop
Peter H
PH
Goate
Alison
A
Pastor
Pau
P
Chakraverty
Sumi
S
Norton
Joanne
J
Morris
John C
JC
Hardy
John
J
Singleton
Andrew
A
D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D051843:Synucleins; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D051844:alpha-Synuclein; D016875:tau Proteins / Q000235:genetics*
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D016875:tau Proteins