Article
Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.
Journal of the peripheral nervous system : JPNS - 1 Mar 2017
Sagnelli Anna, Piscosquito Giuseppe, Di Bella Daniela, Fadda Laura, Melzi Lisa, Morico Antonio, Ciano Claudia, Taroni Franco, Facchetti Dante, Salsano Ettore, Pareyson Davide
Abstract excerpt
We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and...
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