Pre-Symptomatic Tau Detection in MAPT Mutation Carriers

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Pre-Symptomatic Tau Detection in MAPT Mutation Carriers

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experiment Created: 2026-04-02T10:01:41 By: crosslink-v2 Quality: 67% ✓ SciDEX ID: experiment-exp-wiki-experiments-pre-symp

🧫 Experiment Protocol Clinicalproposed

SUMMARY

# Pre-Symptomatic Tau Detection in MAPT Mutation Carriers ## Background and Rationale Mutations in the microtubule-associated protein tau gene (MAPT) cause familial frontotemporal dementia with predictable disease progression, offering a unique window for early detection and intervention. This clinical study investigates whether blood-based tau biomarkers can detect pathological changes 5-10 years before clinical symptom onset in MAPT mutation carriers. The experimental design follows presymptom

METHODOLOGY NOTES

**Phase 1: Participant Recruitment and Baseline Assessment (Months 1-6)** • Recruit 200 asymptomatic MAPT mutation carriers (P301L, R406W, V337M variants) aged 25-50 years • Recruit 100 age-matched controls without MAPT mutations • Obtain informed consent and collect detailed family history • Perform comprehensive neurological examination using ALS Functional Rating Scale-Revised (ALSFRS-R) • Conduct cognitive assessment battery including Montreal Cognitive Assessment (MoCA) and Frontal Assessment Battery (FAB) • Collect baseline blood samples (20mL) in EDTA tubes for biomarker analysis **Phase 2: Longitudinal Blood Biomarker Collection (Months 1-60)** • Collect blood samples every 6 months for 5 years (11 timepoints total per participant) • Process samples within 2 hours: centrifuge at 2000g for 10 minutes, aliquot plasma • Store plasma at -80°C until batch analysis • Measure plasma tau species using Single Molecule Array (Simoa) technology: - Total tau (t-tau) - Phosphorylated

▸Metadatasource: {'type': 'manual', 'source_name': 'wiki'

source	{'type': 'manual', 'source_name': 'wiki', 'extracted_by': 'backfill_v1', 'extraction_date': '2026-04-16T01:00:16.903352Z'}
summary	# Pre-Symptomatic Tau Detection in MAPT Mutation Carriers ## Background and Rationale Mutations in the microtubule-associated protein tau gene (MAPT) cause familial frontotemporal dementia with predic
entities	{'genes': ['MAPT'], 'diseases': ['ALS']}
model_system	human
_schema_version	1
experiment_type	clinical
primary_outcome	Detection of elevated blood tau species in presymptomatic MAPT carriers with correlation to estimated years until symptom onset.
methodology_notes	Phase 1: Participant Recruitment and Baseline Assessment (Months 1-6) • Recruit 200 asymptomatic MAPT mutation carriers (P301L, R406W, V337M variants) aged 25-50 years • Recruit 100 age-matched c
replication_status	single_study
extraction_metadata	{'backfill_at': '2026-04-16T01:00:16.903358', 'needs_review': True, 'extraction_notes': 'Backfilled from wiki source (no PMID available)', 'extraction_confidence': 0.4}

📊 Evidence Profile Foundational

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100%

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Pre-Symptomatic Tau Detection in MAPT Mutation Carriers

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