Poor Yield of Routine Transthyretin Screening in Patients with Idiopathic Neuropathy

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a genetic disorder caused by TTR gene mutations.
• TTR-FAP exhibits significant genetic and phenotypic heterogeneity influenced by geographic factors.
• Recent therapeutic advancements necessitate a clearer understanding of TTR-FAP prevalence.

Purpose of the Study:

• To determine the prevalence of TTR-FAP in a North American population.
• To assess the diagnostic yield of TTR gene screening in patients with idiopathic neuropathy.

Main Methods:

• Sequencing of the TTR gene was performed.
• A cohort of 110 patients with idiopathic neuropathy from Montreal, Canada, was analyzed.

Main Results:

• No pathogenic mutations or variants of unknown significance in the TTR gene were detected.
• The study found no cases of TTR-FAP in the screened North American cohort.

Conclusions:

• TTR-FAP is a rare condition in the studied North American patient population.
• Screening all patients with idiopathic neuropathy for TTR-FAP has a very low diagnostic yield.