sNfL Levels Detect Neuronal Damage and Measure Treatment Effect in Hereditary Transthyretin Amyloidosis
The use of serum neurofilament light chain was investigated for the detection of neuronal damage prior to polyneuropathy development in carriers and patients with hereditary transthyretin amyloidosis. In carriers who developed polyneuropathy, serum neurofilament light chain increased prior to symptom onset.
In ATTRv-PN, Serum Filament Light Chain Identifies Conversion to Symptomatic Disease
Serum neurofilament light chain is a proposed biomarker for patients with hereditary transthyretin amyloid polyneuropathy. NfL correlates well with examination scores and disease severity, and increases over time with progression from asymptomatic to symptomatic disease.
Axonal Excitability As an ATTRv-PN Biomarker
Changes in axonal excitability may be useful as an early biomarker of disease progression that could guide treatment in patients with ATTRv-PN.
ATTR Amyloidosis Variants: New Phenotypic Characterizations
Analyses from an ongoing, international, observational registry show that transthyretin (ATTR) amyloidosis variants F64L, I107V, and S77Y are typically associated with a neurologic phenotype.
In Patients With ATTR-CA, Consider Using This Frailty Screening Tool
As the population of patients with ATTR-CA ages, it has become apparent that cardiologists need a more rapid frailty screening test to assess these patients. Maybe this is the one.
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Transthyretin-Mediated Amyloidosis: Teasing Out the Diagnosis
Recognizing musculoskeletal manifestations as potential early clues for transthyretin-mediated amyloidosis may be important for earlier diagnosis and initiation of appropriate management.