🧬 Frontotemporal Dementia Tau Mutation Simulator

MAPT Gene Mutation Types

Placeholder: short overview of MAPT mutation classes.

• 17q21.31: Gene locus (Placeholder subtext)
• 50+: Known mutations (Placeholder subtext)
• P301L: Common variant (Placeholder subtext)
• 9–13: Exons affected (Placeholder subtext)

Missense vs splice-site MAPT mutations

Placeholder: missense and intronic splice-site mutation categories.

Mutation hotspot regions

Placeholder: microtubule-binding repeat domain hotspots.

Tau Isoform Ratio Disruption

Placeholder: short overview of 3R/4R tau imbalance.

• ~1:1: Normal 3R:4R ratio (Placeholder subtext)
• Altered: Exon 10 splicing (Placeholder subtext)
• Increased: 4R-tauopathy shift (Placeholder subtext)
• Higher: Aggregation propensity (Placeholder subtext)

Exon 10 alternative splicing

Placeholder: exon 10 inclusion/exclusion mechanism.

Consequences of isoform skew

Placeholder: downstream microtubule and aggregation effects.

Frontotemporal-Lobe-Selective Tangle Accumulation

Placeholder: short overview of region-selective pathology.

• Frontal/temporal: Primary regions (Placeholder subtext)
• Hyperphosphorylated tau: Tangle composition (Placeholder subtext)
• Focal → diffuse: Spread pattern (Placeholder subtext)
• Regionally selective: Neuron loss (Placeholder subtext)

Why frontal and temporal lobes

Placeholder: regional vulnerability explanation.

Tangle formation timeline

Placeholder: progression stages of tangle spread.

Genetic vs Sporadic FTD Distinction

Placeholder: short overview comparing genetic and sporadic FTD.

• ~30–50%: Familial FTD share (Placeholder subtext)
• ~10–20%: MAPT-linked cases (Placeholder subtext)
• Variable: Sporadic onset age (Placeholder subtext)
• More predictable: Genetic onset age (Placeholder subtext)

Distinguishing clinical features

Placeholder: clinical clues separating genetic and sporadic FTD.

Other FTD genes besides MAPT

Placeholder: GRN and C9orf72 comparison note.

Genetic Counseling and Family Testing

Placeholder: short overview of counseling and predictive testing.

• Autosomal dominant: Inheritance mode (Placeholder subtext)
• ~50%: Offspring risk (Placeholder subtext)
• Available: Predictive testing (Placeholder subtext)
• Pre/post-test: Counseling step (Placeholder subtext)

Predictive testing process

Placeholder: pre-test and post-test counseling steps.

Family pedigree assessment

Placeholder: pedigree-based risk assessment note.