{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T17:49:44Z","timestamp":1771523384261,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,6,21]],"date-time":"2011-06-21T00:00:00Z","timestamp":1308614400000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:p>Autosomal\u2010dominant transthyretin (TTR)\u2010related amyloidosis usually manifests in the second to fourth decade with a length\u2010dependent axonal neuropathy with prominent involvement of the small fibers and multi\u2010organ systemic failure. We retrospectively analyzed seventeen probands, including thirteen apparently isolated cases, carrying eight mutations of <jats:italic>TTR<\/jats:italic> gene (age of onset = 60.4 \u00b1 13.5 years). Thirteen patients were initially un\/misdiagnosed; interval from onset to definite diagnosis was 3.3 \u00b1 2.3 years. Inaugural syndromes were a length\u2010dependent motor\u2010sensory neuropathy in seven cases, a sensory neuropathy in four, an isolated carpal tunnel syndrome in three, a pure dysautonomia in two, and a painful neuropathy in one. Atypical presentations included demyelinating nerve conduction changes with increased cerebrospinal fluid proteins resembling chronic inflammatory demyelinating polyradiculoneuropathy and a predominantly motor involvement resembling a motor neuron disorder. Misleading findings also included amyloid\u2010negative abdominal fat aspirate\/biopsy, biclonal gammopathy, and hepatitis C virus (HCV) seropositivity. Sural nerve biopsy detected amyloid deposits in thirteen of fifteen patients, including one case with a previous negative biopsy. TTR\u2010immunohistochemistry was necessary to complete the diagnosis of primary amyloidosis light chain in a patient with biclonal gammopathy. A recurrent p.Phe64Leu mutation manifested in the seventh decade with painful motor\u2010sensory polyneuropathy, dysautonomia, bulbar palsies, and fasciculations. <jats:italic>TTR<\/jats:italic> should be tested in a wide clinical spectrum of cryptogenetic, progressive, and motor\u2010sensory neuropathies even manifesting with a very late onset.<\/jats:p>","DOI":"10.1111\/j.1529-8027.2011.00331.x","type":"journal-article","created":{"date-parts":[[2011,6,22]],"date-time":"2011-06-22T02:36:36Z","timestamp":1308710196000},"page":"119-129","source":"Crossref","is-referenced-by-count":74,"title":["Variable presentations of TTR\u2010related familial amyloid polyneuropathy in seventeen patients"],"prefix":"10.1111","volume":"16","author":[{"given":"Manuel","family":"Cappellari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiziana","family":"Cavallaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moreno","family":"Ferrarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Cabrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Taioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampaolo","family":"Merlini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Obici","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Briani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gian 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