{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T05:22:20Z","timestamp":1791868940866,"version":"4.3.4"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,3,14]],"date-time":"2017-03-14T00:00:00Z","timestamp":1489449600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the first Italian family affected by hereditary gelsolin amyloidosis (<jats:styled-content style=\"fixed-case\">HGA<\/jats:styled-content>), a rare autosomal dominant disease characterized by adult\u2010onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39\u2010year\u2010old male with a 9\u2010year 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\u2010gene sequencing revealed the heterozygous c.<jats:styled-content style=\"fixed-case\">640G<\/jats:styled-content>&gt;A mutation (p.<jats:styled-content style=\"fixed-case\">Asp187Asn<\/jats:styled-content>) in the proband, his mother and aunt and also in three apparently asymptomatic relatives. The majority of <jats:styled-content style=\"fixed-case\">HGA<\/jats:styled-content> patients come from Finland, although several cases have been reported from other countries. <jats:styled-content style=\"fixed-case\">HGA<\/jats:styled-content> should be considered in the differential diagnosis of progressive or recurrent bilateral facial neuropathy.<\/jats:p>","DOI":"10.1111\/jns.12200","type":"journal-article","created":{"date-parts":[[2016,12,17]],"date-time":"2016-12-17T15:18:17Z","timestamp":1481987897000},"page":"59-63","source":"Crossref","is-referenced-by-count":12,"title":["Hereditary gelsolin amyloidosis (<scp>HGA<\/scp>): a neglected cause of bilateral progressive or recurrent facial palsy"],"prefix":"10.1111","volume":"22","author":[{"given":"Anna","family":"Sagnelli","sequence":"first","affiliation":[{"name":"Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Piscosquito","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Di Bella","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Fadda","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Cagliari  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Melzi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Neuro\u2010ophthalmology Unit  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Morico","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Corneal Service IRCCS Istituto Auxologico Italiano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Ciano","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dante","family":"Facchetti","sequence":"additional","affiliation":[{"name":"Department of Neurology ASST Niguarda Hospital  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Salsano","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences IRCCS Foundation, \u201cC. 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