Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.

Abstract excerpt

INTRODUCTION/AIMS: It is imperative to screen asymptomatic carriers of transthyretin (TTR) mutations to initiate treatment early. The protocol for repeated electrodiagnostic (EDX) assessments over time lacks standardization. Our aim was to report the electrophysiological evolution of a cohort of asymptomatic carriers and to determine which biomarkers were most sensitive to change. METHODS: We performed a...

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• Action Potentials
• Amyloid Neuropathies, Familial
• Electrodiagnosis
• Heterozygote
• Mutation