Mutation-specific neuropathologic signatures in MAPT-associated frontotemporal lobar degeneration
By
Marika Bogdani
Vaishnavi S. Jadhav
Brian C. Kraemer
Thomas J. Grabowski
Suman Jayadev
Kimiko Domoto-Reilly
Nicole F. Liachko
Thomas D. Bird
C. Dirk Keene
Caitlin S. Latimer
July 3, 2026
Clinical Scorecard: Neuropathological Features Associated with Specific Mutations in the MAPT Gene in Frontotemporal Lobar Degeneration
At a Glance
Category Detail
Condition Frontotemporal Lobar Degeneration with Tau Pathology (FTLD-tau) Key Mechanisms Mutations in the MAPT gene alter tau protein function, affecting microtubule binding and splicing. Target Population Individuals with pathogenic MAPT mutations, specifically V337M, P301L, or L284L. Care Setting Neurology and neurogenetics clinics specializing in neurodegenerative disorders.
Key Highlights
Over 60 pathogenic MAPT variants identified, affecting tau protein function. Distinct neuropathologic signatures observed across different MAPT mutations. Familial FTLD-tau provides a unique opportunity to study disease mechanisms. Guideline-Based Recommendations
Diagnosis
Genetic testing for MAPT mutations in families with a history of FTLD. Management
Clinical follow-up and assessment of cognitive and behavioral decline. Monitoring & Follow-up
Regular neurological evaluations to track disease progression. Risks
Increased risk of neurodegeneration associated with specific MAPT mutations. Patient & Prescribing Data
Families with confirmed MAPT mutations.
No specific treatments for MAPT-related FTLD-tau; management focuses on symptomatic relief.
Clinical Best Practices
Conduct comprehensive neuropathologic analysis in affected families. Utilize standardized approaches for evaluating neuropathologic features. Related Resources & Content
