Article
From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation.
Annals of neurology - 1 Jun 1999
Nasreddine Z S, Loginov M, Clark L N, Lamarche J, Miller B L, Lamontagne A, Zhukareva V, Lee V M, Wilhelmsen K C, Geschwind D H
Abstract excerpt
Frontotemporal dementia is a heterogeneous, often inherited disorder that typically presents with the insidious onset of behavioral and personality changes. Two genetic loci have been identified and mutations in tau have been causally implicated in a subset of families linked to one of these loci on chromosome 17q21-22. In this study, linkage analysis was performed in a large pedigree, the MN family, suggesting...
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