Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus

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dc.contributor.author Dardiotis, E en
dc.contributor.author Koutsou, P en
dc.contributor.author Papanicolaou, EZ en
dc.contributor.author Vonta, I en
dc.contributor.author Kladi, A en
dc.contributor.author Vassilopoulos, D en
dc.contributor.author Hadjigeorgiou, G en
dc.contributor.author Christodoulou, K en
dc.contributor.author Kyriakides, T en
dc.date.accessioned 2014-03-01T01:58:53Z
dc.date.available 2014-03-01T01:58:53Z
dc.date.issued 2009 en
dc.identifier.issn 1350-6129 en
dc.identifier.uri https://dspace.lib.ntua.gr/xmlui/handle/123456789/28769
dc.subject Familial amyloidotic neuropathy en
dc.subject transthyretin en
dc.subject epidemiology en
dc.subject.classification Biochemistry & Molecular Biology en
dc.subject.classification Medicine, General & Internal en
dc.subject.classification Medicine, Research & Experimental en
dc.subject.other LATE-ONSET en
dc.subject.other HAPLOTYPE ANALYSIS en
dc.subject.other TRANSTHYRETIN-TYPE en
dc.subject.other PEDIGREE ANALYSIS en
dc.subject.other JAPAN en
dc.subject.other ANTICIPATION en
dc.subject.other SWEDEN en
dc.subject.other COMMON en
dc.subject.other HETEROGENEITY en
dc.title Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus en
heal.type journalArticle en
heal.language English en
heal.publicationDate 2009 en
heal.abstract Objectives. To define the incidence and prevalence of familial amyloidotic polyneuropathy (FAP) TTRVal30Met on the island of Cyprus. To study the clinical phenotype and genetic features of FAP TTRVal30Met in the Cypriot population. Methods. The clinical and neurogenetic databases were used to identify probands with FAP TTRVal30Met and detailed family trees were constructed. Potential carriers of the mutation were identified from the family trees and assessed clinically and genetically. Transthyretin was completely sequenced in patients and potential carriers. Results. Thirty-six patients carrying the TTRVal30Met mutation (one homozygote) from 22 families were identified. On 1 December 2003 the prevalence of FAP was 3.72/100,000 while the incidence is estimated to be 0.69/100,000 per year. The phenotype observed was characteristic for a length dependent sensorimotor and autonomic neuropathy with neuropathic pain. Mean age of onset was 46 years. Penetrance is estimated to be 28% and positive anticipation in the age of onset is found. Conclusion. FAP is relatively prevalent in Cyprus which may be considered as another endemic focus of the disease in Europe. The mean age of onset and penetrance is different from the Portuguese and Swedish populations. Understanding the biological factors that determine these differences could potentially lead to therapeutic advances. en
heal.publisher INFORMA HEALTHCARE en
dc.identifier.isi ISI:000264220300005 en
dc.identifier.volume 16 en
dc.identifier.issue 1 en
dc.identifier.spage 32 en
dc.identifier.epage 37 en

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