hATTR News Briefs


hATTR-Related Polyneuropathy Linked With Cardiomyopathy

Patients with late-onset hereditary transthyretin amyloidosis (hATTR) who have a predominant p.A117S mutation tend to develop cardiomyopathy regardless of the clinical severity of polyneuropathy, according to a recently published study in Annals of Clinical and Translational Neuropathy. Although neurologic symptoms secondary to polyneuropathy constitute the hallmark presentation of hATTR, the presence of cardiomyopathy represents the main…

nerve fibers

Cutaneous Silent Periods in Presymptomatic Hereditary Transthyretin Amyloidosis Carriers

Researchers have discovered that cutaneous silent periods (CSPs) in carriers of hereditary transthyretin amyloidosis are a possible early marker of nerve damage, according to a letter to the editor published in Neurological Sciences. Hereditary transthyretin amyloidosis is an autosomal dominant disease that results in multisystemic pathology. Its therapeutic landscape has undergone tremendous change in recent…


Three Genetic Variants Associated With hATTR Reclassified as Pathogenic

Three hereditary transthyretin amyloidosis (hATTR) genetic variants previously classified as variants of uncertain significance (VUS) have been reclassified as variants likely pathogenic (VLP), giving them potential diagnostic utility, according to a recently published article in Neurology and Therapy. hATTR occurs due to single base pair substitutions in the transthyretin (TTR) gene, known as missense pathogenic variants,…


Experimental Treatment Could Improve Quality of Life in Patients With hATTR

A novel investigational therapy currently being tested in clinical trials may become a treatment option for patients with hereditary transthyretin amyloidosis (hATTR), according to a news release from Alnylam Pharmaceuticals, Inc. This phase 3 trial evaluated the efficacy and safety of patisiran, which is designed to treat hATTR patients with cardiomyopathy. This experimental treatment successfully…

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