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Familial Early-Onset Dementia With Tau Intron 10 + 16 Mutation With Clinical Features Similar to Those of Alzheimer Disease
Mark Doran, MD;
Daniel G. du Plessis, FRCPath;
Eric J. Ghadiali, PhD;
David M. A. Mann, FRCPath;
Stuart Pickering-Brown, PhD;
Andrew J. Larner, MD
Arch Neurol. 2007;64(10):1535-1539.
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.
Design Case reports.
Setting 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.
Author Affiliations: Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Liverpool (Drs Doran, Ghadiali, and Larner); Greater Manchester Neurosciences Centre, Hope Hospital, Salford (Drs du Plessis and Mann); and Division of Regenerative Medicine, University of Manchester, Manchester (Dr Pickering-Brown), England.
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