{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T00:47:41Z","timestamp":1787964461712,"version":"build-2784847793"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:00:00Z","timestamp":1590710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>V122I is one of more than 130 mutations in transthyretin gene associated with hereditary TTR (ATTRv) amyloidosis. Main clinical expression is an infiltrative pseudohypertrophic cardiomyopathy with mild or no neurological symptoms. It is particularly common among African\u2010Americans (prevalence: 3%\u20104%). We report 12 subjects from seven unrelated Caucasian families hailing from Sicily and carrying the V122I mutation. One patient was homozygous for V122I and in another family two subjects also carried the E89Q variant in compound heterozygosity. All the subjects underwent neurologic\/neurophysiologic evaluation and cardiologic baseline tests; in five of them, cardiac magnetic resonance and\/or (99\u2009m) Tc\u2010DPD scintigraphy were performed. Three of 12 subjects were asymptomatic carriers. Of the remaining nine subjects, in four of nine patients, the nerve conduction studies revealed a polyneuropathy; in one of them, this represents the only sign of disease after 5\u2009years of follow\u2010up. In eight of nine subjects, we found a hypertrophic restrictive cardiomyopathy and cardiac failure, associated with a carpal tunnel syndrome. Although in non\u2010Afro\u2010American individuals V122I prevalence is low, subjects carrying this mutation have been identified in the United Kingdom, Italy, and France. Our report describes a large cohort of V122I Caucasian patients from a non\u2010endemic area, confirming the possible underestimation of this mutation in the non\u2010African population. Moreover, it highlights the heterogeneity in the genotype\u2010phenotype correlation of ATTRv mutations, suggesting that the presence of a polyneuropathy has to be identified as soon as possible, since available treatments are, in Europe, so far authorized only for ATTRv amyloid peripheral neuropathy.<\/jats:p>","DOI":"10.1111\/jns.12385","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T09:38:34Z","timestamp":1589276314000},"page":"273-278","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Description of a large cohort of Caucasian patients with <scp>V122I ATTRv<\/scp> amyloidosis: Neurological and cardiological features"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7947-8610","authenticated-orcid":false,"given":"Luca","family":"Gentile","sequence":"first","affiliation":[{"name":"Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Di Bella","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Minutoli","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Dental Sciences and Morphofunctional Imaging University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francescopaolo","family":"Cucinotta","sequence":"additional","affiliation":[{"name":"Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7468-700X","authenticated-orcid":false,"given":"Laura","family":"Obici","sequence":"additional","affiliation":[{"name":"Amyloidosis Research and Treatment Centre Fondazione IRCCS Policlinico San Matteo  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Mussinelli","sequence":"additional","affiliation":[{"name":"Amyloidosis Research and Treatment Centre Fondazione IRCCS Policlinico San Matteo  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilenia","family":"Arimatea","sequence":"additional","affiliation":[{"name":"Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Russo","sequence":"additional","affiliation":[{"name":"Unit of Neurology and 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