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An autopsied FTDP-17 case with MAPT IVS 10 + 14C > T mutation presenting with frontotemporal dementia
Ryohei Watanabe1,2, Ito Kawakami1, Takeshi Ikeuchi3
1Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya, Tokyo, Japan.
Abstract:
•We report the immunohistochemical and biochemical features of an FTDP-17 case with MAPT IVS 10 + 14C > T mutation.•Postmortem examination of the patient with bvFTD revealed diffuse neuronal and glial 4-repeat tau pathology similar to CBD.•The structure of tau filaments associated with MAPT IVS 10 + 14C > T mutation was characterized by electron microscopy.
Insights
This study details a rare Frontotemporal Dementia (FTDP-17) case caused by a MAPT gene mutation. The patient exhibited tau pathology, similar to Corticobasal Degeneration (CBD), with tau filaments characterized by electron microscopy.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Frontotemporal dementia (FTD) is a group of neurodegenerative disorders.
- FTD is characterized by progressive changes in behavior, personality, and language.
- Mutations in the MAPT gene are associated with specific forms of FTD, including FTDP-17.
Purpose of the Study:
- To investigate the clinicopathological features of a patient with FTDP-17.
- To characterize the tau pathology associated with a specific MAPT gene mutation (IVS 10 +14C>T).
- To elucidate the ultrastructural properties of tau filaments in this mutation.
Main Methods:
- Immunohistochemical analysis of brain tissue.
- Biochemical characterization of tau proteins.
- Electron microscopy of tau filaments.
- Postmortem examination of a patient with behavioral variant FTD (bvFTD).
Main Results:
- The patient presented with behavioral variant FTD (bvFTD).
- Postmortem examination revealed diffuse neuronal and glial 4-repeat tau pathology.
- The observed tau pathology was similar to that seen in Corticobasal Degeneration (CBD).
- Electron microscopy characterized the structure of tau filaments linked to the MAPT IVS 10 +14C>T mutation.
Conclusions:
- The MAPT IVS 10 +14C>T mutation can cause FTDP-17 with tau pathology resembling CBD.
- This case highlights the genetic heterogeneity and phenotypic variability in FTD.
- Understanding tau filament structure provides insights into disease mechanisms.
