Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
-
This study aims to delineate the clinical profiles of the hereditary transthyretin amyloid polyneuropathy (ATTRv-PN) patients with A97S variant from southern China and the molecular characteristics of this mutant protein. ⋯ This study provides valuable insights into the clinical and molecular characteristics of ATTRv-PN patients with A97S from South China, particularly regarding the differences in disease progression and stability features.
-
Neurofilament light chain (NfL) is a biomarker of neuronal injury in hereditary ATTR (ATTRv) amyloidosis. However, the correlation between NfL and nerve conduction study (NCS), the standard test for ATTRv neuropathy, has not been investigated. ⋯ NfL levels are found to be correlated with CMAP/SNAP amplitudes. Compared with NCS, NfL can be a more sensitive biomarker for detecting treatment response and active nerve damage even in patients with advanced neuropathy.
-
Multicenter Study
Prognostic value of CMR-derived extracellular volume in AL amyloidosis: a multicenter study.
This study aimed to assess the prognostic value of cardiac magnetic resonance (CMR) variables and compare them with biological and echocardiographic markers in patients with AL cardiac amyloidosis (CA). ⋯ ECV is a powerful predictor of outcomes in AL CA, providing additional prognostic value on top of Mayo Clinic staging.