Case Report: Five-year follow-up of leptomeningeal transthyretin amyloidosis (Ala45Thr) with CNS involvement under tolcapone therapy

Abstract

Background:

Transthyretin (TTR) p.Ala45Thr variant is pathogenic, typically associated with cardiomyopathy and peripheral neuropathy. Leptomeningeal and central nervous system (CNS) involvement is rare, and longitudinal treatment data remain limited.

Methods:

We conducted a single-patient longitudinal observational study of a patient with genetically confirmed hereditary transthyretin amyloidosis (ATTRv) carrying the TTR p.Ala45Thr variant with CNS involvement. The patient was followed over 5 years using multimodal assessments, including neurological and cognitive testing, cerebrospinal fluid (CSF) analysis, magnetic resonance imaging (MRI), and electrophysiological studies.