Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

Autor: Laura Fadda, Franco Taroni, Claudia Ciano, Davide Pareyson, L Melzi, Dante Facchetti, Daniela Di Bella, Giuseppe Piscosquito, Anna Sagnelli, Ettore Salsano, Antonio Morico
Rok vydání: 2017
Předmět:
Zdroj: Journal of the Peripheral Nervous System. 22:59-63
ISSN: 1085-9489
DOI: 10.1111/jns.12200
Popis: 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 grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother. Gelsolin-gene sequencing revealed the heterozygous c.640G>A mutation (p.Asp187Asn) in the proband, his mother and aunt and also in three apparently asymptomatic relatives. The majority of HGA patients come from Finland, although several cases have been reported from other countries. HGA should be considered in the differential diagnosis of progressive or recurrent bilateral facial neuropathy.
Databáze: OpenAIRE
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