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The tau gene locus and frontotemporal dementia
1Institute of Psychiatry, London, UK. S.Pickering-Brown@iop.kcl.ac.uk
Dementia and Geriatric Cognitive Disorders
|June 5, 2004
Summary
Frontotemporal lobar degeneration (FTLD) can stem from tau gene mutations. However, some FTLD cases linked to chromosome 17 lack tau mutations or insoluble tau accumulation, suggesting alternative disease pathways.
Area of Science:
- Neuroscience
- Genetics
- Dementia Research
Background:
- Frontotemporal lobar degeneration (FTLD) is a recognized dementia.
- Tau gene mutations on chromosome 17 are linked to some FTLD cases.
- Insoluble tau accumulation is a known neurotoxic hallmark in FTLD with tau mutations.
Purpose of the Study:
- To discuss the role of the tau locus in FTLD.
- To explore FTLD cases with tau mutations but no insoluble tau accumulation.
- To investigate chromosome 17-linked FTLD families without identified tau mutations.
Main Methods:
- Literature review of FTLD cases linked to chromosome 17.
- Analysis of genetic data from families with and without tau mutations.
- Pathological examination of brain tissue for tau accumulation.
Main Results:
- Some FTLD families linked to chromosome 17 have no identified tau mutations.
- Newly described tau mutations can cause disease without insoluble tau aggregation.
- These findings challenge the universal role of insoluble tau in FTLD pathogenesis.
Conclusions:
- The tau locus on chromosome 17 plays a complex role in FTLD.
- Alternative mechanisms to insoluble tau accumulation may drive neurodegeneration in certain FTLD subtypes.
- Further research is needed to understand FTLD heterogeneity and genetic underpinnings.