Article
Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis.
Neurology - 9 May 2023
Zampino Serena, Sheikh Farooq H, Vaishnav Joban, Judge Daniel, Pan Baohan, Daniel Amrita, Brown Emily, Ebenezer Gigi, Polydefkis Michael
Abstract excerpt
BACKGROUND AND OBJECTIVES: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant systemic disease with variable penetrance and heterogeneous clinical presentation. Several effective treatments can reduce mortality and disability, though diagnosis remains challenging, especially in the United States where disease is nonendemic. Our aim is to describe the neurologic and cardiac characteristics...
Topics
- Female
- Male
- Humans
- Retrospective Studies
- Amyloid Neuropathies, Familial
- Cardiomyopathies
- Phenotype
- Prealbumin