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

Dardiotis, E; Koutsou, P; Papanicolaou, EZ; Vonta, I; Kladi, A; Vassilopoulos, D; Hadjigeorgiou, G; Christodoulou, K; Kyriakides, T

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	GEOGRAPHICAL-DISTRIBUTION	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
heal.journalName	AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS	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