Nov 16, 2001

The genetic and pathological classification of familial frontotemporal dementia

Archives of Neurology
H R MorrisM N Rossor


Frontotemporal dementia (FTD) is an important cause of neurodegenerative dementia, particularly in younger patients. TAU has been identified as the gene responsible for FTD linked to chromosome 17, but it is likely that there is pathological and genetic heterogeneity among families with FTD. To explore the genetic and pathological basis of familial FTD. Clinical case series with genetic analysis of each family, and pathological confirmation of diagnosis where possible. Specialist dementia research group, particularly recruiting patients with young-onset dementia. Twenty-two families with an index member with FTD, meeting Lund-Manchester criteria, and a family history of other affected members with dementia were ascertained. Half of the families had mutations in the TAU gene (TAU exon 10 +14, +16, and P301S), and pathological diagnoses were available in 17 of 22 families. Three main pathological diagnoses were made: FTD with neuronal and glial tau deposition, FTD with ubiquitin inclusions, and FTD with neuronal loss and spongiosis but without intracellular inclusions. No cases of familial Pick disease were identified. With the use of the pathological diagnoses, each family with FTD with neuronal and glial tau deposition had a TA...Continue Reading

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Mentioned in this Paper

Senile Paranoid Dementia
Genetic Analysis
Genetic Screening Method
Ubiquitin Activity
Wernicke Area

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