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J Peripher Nerv Syst. 2017 Mar;22(1):59-63. doi: 10.1111/jns.12200.

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

Author information

1
Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
2
Department of Diagnostic and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
3
Department of Neurology, University of Cagliari, Cagliari, Italy.
4
Department of Ophthalmology, Neuro-ophthalmology Unit, Milan, Italy.
5
Department of Ophthalmology, Corneal Service, IRCCS Istituto Auxologico Italiano, Milan, Italy.
6
Department of Neurology, ASST Niguarda Hospital, Milan, Italy.

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.

KEYWORDS:

amyloidosis; bilateral facial palsy; familial amyloid polyneuropathy type IV; hereditary gelsolin amyloidosis; lattice corneal dystrophy

PMID:
27982499
DOI:
10.1111/jns.12200
[Indexed for MEDLINE]

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