title: Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.
abstract: 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.
authors.affiliation: Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Sagnelli
authors.affiliation: Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Piscosquito
authors.affiliation: Department of Diagnostic and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Di Bella
authors.affiliation: Department of Neurology, University of Cagliari, Cagliari, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Fadda
authors.affiliation: Department of Ophthalmology, Neuro-ophthalmology Unit, Milan, Italy.
authors.forename: Lisa
authors.initials: L
authors.lastname: Melzi
authors.affiliation: Department of Ophthalmology, Corneal Service, IRCCS Istituto Auxologico Italiano, Milan, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Morico
authors.affiliation: Department of Diagnostic and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Ciano
authors.affiliation: Department of Diagnostic and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.affiliation: Department of Neurology, ASST Niguarda Hospital, Milan, Italy.
authors.forename: Dante
authors.initials: D
authors.lastname: Facchetti
authors.affiliation: Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Ettore
authors.initials: E
authors.lastname: Salsano
authors.affiliation: Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Pareyson
mesh_terms: D000328:Adult; D028226:Amyloidosis, Familial / Q000150:complications* / Q000235:genetics*; D018450:Disease Progression; D005158:Facial Paralysis / Q000209:etiology*; D005192:Family Health; D018260:Gelsolin / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D018260:Gelsolin
keywords: amyloidosis; bilateral facial palsy; familial amyloid polyneuropathy type IV; hereditary gelsolin amyloidosis; lattice corneal dystrophy