Jun 18, 1998

Tau is a candidate gene for chromosome 17 frontotemporal dementia

Annals of Neurology
Parvoneh PoorkajGerard D Schellenberg


Frontotemporal dementia with parkinsonism, chromosome 17 type (FTDP-17), a recently defined disease entity, is clinically characterized by personality changes sometimes associated with psychosis, hyperorality, and diminished speech output, disturbed executive function and nonfluent aphasia, bradykinesia, and rigidity. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, and amygdala. Neurofibrillary tangles (NFTs) are seen in some but not all families. Inheritance is autosomal dominant and the gene has been regionally localized to 17q21-22 in a 2- to 4-centimorgan (cM) region flanked by markers D17S800 and D17S791. The gene for tau, the primary component of NFTs, is located in the same region of chromosome 17. Tau was evaluated as a candidate gene. Physical mapping studies place tau within 2 megabases or less of D17S791, but it is probably outside the D17S800-D17S791 FTDP-17 interval. DNA sequence analysis of tau coding regions in affected subjects from two FTDP-17 families revealed nine DNA sequence variants, eight of which were also identified in controls and are thus polymorphisms. A ninth variant (Val279Met) was found in one FTDP-17 family but not in ...Continue Reading

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  • Citations608


Mentioned in this Paper

Senile Paranoid Dementia
Muscle Rigidity
Family Health Status
Neurofibrillary Degeneration (Morphologic Abnormality)
Candidate Disease Gene
Homologous Sequences, Amino Acid
Entire Basal Nuclei
Substantia Nigra Structure
Wernicke Area

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