title: Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Departments of Neurology & Molecular Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: Eftymioe
authors.initials: E
authors.lastname: Dardiotis
authors.forename: Panoelitsa
authors.initials: P
authors.lastname: Koutsou
authors.forename: Eleni Zamba
authors.initials: EZ
authors.lastname: Papanicolaou
authors.forename: Ilia
authors.initials: I
authors.lastname: Vonta
authors.forename: Athina
authors.initials: A
authors.lastname: Kladi
authors.forename: Demetrios
authors.initials: D
authors.lastname: Vassilopoulos
authors.forename: Georgios
authors.initials: G
authors.lastname: Hadjigeorgiou
authors.forename: Kyproyla
authors.initials: K
authors.lastname: Christodoulou
authors.forename: Theodoros
authors.initials: T
authors.lastname: Kyriakides
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000453:epidemiology* / Q000235:genetics*; D003535:Cyprus / Q000453:epidemiology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D011228:Prealbumin / Q000235:genetics*; D015995:Prevalence
chemical_list: D011228:Prealbumin