Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.
BACKGROUND
Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) owing to the tau intron 10 + 16 mutation usually occurs with a prototypical frontotemporal dementia phenotype with prominent disinhibition and affective disturbances.


OBJECTIVE
To report a new FTDP-17 pedigree with the tau intron 10 + 16 mutation demonstrating a clinical phenotype suggestive of Alzheimer disease.


METHODS
Case reports.


METHODS
Regional neuroscience centers in northwest England. Patients We examined 4 members of a kindred in which 8 individuals were affected in 3 generations.


RESULTS
All 4 patients reported memory difficulty. Marked anomia was also present, but behavioral disturbances were conspicuously absent in the early stages of disease. All patients had an initial clinical diagnosis of Alzheimer disease. No mutations were found in the presenilin or amyloid precursor protein genes. Pathologic examination of the proband showed features typical of FTDP-17, and tau gene analysis showed the intron 10 + 16 mutation.


CONCLUSIONS
This pedigree illustrates the phenotypic variability of tau intron 10 + 16 mutations. In pedigrees with a clinical diagnosis of Alzheimer disease but without presenilin or amyloid precursor protein gene mutations, tau gene mutations may be found.
Doran
Mark
M
Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Liverpool L9 7LJ, England.
du Plessis
Daniel G
DG
Ghadiali
Eric J
EJ
Mann
David M A
DM
Pickering-Brown
Stuart
S
Larner
Andrew J
AJ
D000328:Adult; D000544:Alzheimer Disease / Q000523:psychology*; D001284:Atrophy; D002540:Cerebral Cortex / Q000473:pathology; D003704:Dementia / Q000235:genetics* / Q000523:psychology*; D018450:Disease Progression; D005190:Family; D017809:Fatal Outcome; D005260:Female; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009483:Neuropsychological Tests; D010375:Pedigree; D016875:tau Proteins / Q000235:genetics*
D016875:tau Proteins