Article
Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutation.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Sept 2021
Pastorelli Francesca, Fabbri Gioele, Rapezzi Claudio, Serenelli Matteo, Plasmati Rosaria, Vacchiano Veria, Ferlini Alessandra, Manfrini Marco, Salvi Fabrizio
Abstract excerpt
BACKGROUND: Ile68Leu transthyretin-related amyloidosis (ATTR) is known as a mainly or exclusively cardiogenic variant. We hypothesized that an accurate specialized neurological evaluation could reveal a consistent frequency of mixed phenotypes. METHODS: Forty-six consecutive subjects with transthyretin (TTR) Ile68Leu (p.Ile88Leu) mutation (29 patients and 17 unaffected carriers) underwent an in-depth cardiac and...
Topics
- Amyloid Neuropathies, Familial
- Cardiomyopathies
- Humans
- Mutation
- Phenotype
- Prealbumin