DEGENERATIVE DISEASES AFFECTING THE CEREBRAL CORTEX-Frontotemporal Dementias Flashcards Preview

These are a group of disorders that were first classified together
because they shared clinical features (progressive deterioration of language and changes in
personality) corresponding to degeneration and atrophy of temporal and frontal lobes. [49]
 

progressive deterioration in language and personality

tau-containing deposits as their characteristic finding,
giving rise to the term tauopathy.

Frontotemporal Dementia with Parkinsonism Linked to Tau Mutations

The study of families with FTD led to the recognition that in some, but not all, pedigrees there
are mutations in the MAPT gene encoding tau.

The mutations fall into several broad
categories: coding-region mutations and intronic mutations. 

• There is evidence of atrophy of frontal and temporal lobes in various combinations and to various degrees.
• The pattern of atrophy can often be predicted in partby the clinical symptomatology.
• The atrophic regions of cortex are marked by neuronal loss, gliosis, and the presence of tau-containing neurofibrillary tangles.
• These tangles may contain either 4R tau or a mixture of 3R and 4R tau.
• Nigral degeneration may also occur.
• Inclusions can also be found in glial cells in some forms of the disease.