title: Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain).
abstract: Between 1976 and 2003, we diagnosed 144 patients with familial amyloid polyneuropathy (FAP) in the Balearic Islands (Spain). Analysis of genetic epidemiological data from 102 confirmed patients showed 62% were men. Parental transmission was paternal in 38, maternal in 25, and unknown in 39. No family history of FAP was found in 32 patients. TTRVal30Met associated with haplotype I was present in the individuals studied. Mean age-at-onset was 45.7 years which lies between that of Sweden and those of Portugal, Japan and Brazil. Duration of FAP was of 9.7 years. Age-at-onset, age-at-death, duration and fertility were similar between sexes. Twenty-nine intergeneration familial pairs of patients were ascertained. Raw anticipation was positive in twenty-four pairs, zero in one, and negative in four. Differences greater than 9 years between age-at-onset of the first and second member were considered relevant; positive relevant anticipation was found in 76% of the whole pairs. The frequency of positive anticipation of parent-child pairs was not significantly different than those described in the Swedish and Portuguese series. Significant positive correlation in age-at-onset was confirmed in twenty-seven types of pairs supporting the hypothesis that a genetic factor may modulate age-at-onset. The Balearic focus of FAP is expanding and constitutes a public health problem.
authors.affiliation: Grupo de Estudio de la PAF, Majorca, Spain. jaumemunar@telefonica.net
authors.forename: Miguel
authors.initials: M
authors.lastname: Munar-Qués
authors.forename: Maria J M
authors.initials: MJ
authors.lastname: Saraiva
authors.forename: Carlos
authors.initials: C
authors.lastname: Viader-Farré
authors.forename: José María
authors.initials: JM
authors.lastname: Zabay-Becerril
authors.forename: Juana
authors.initials: J
authors.lastname: Mulet-Ferrer
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D028227:Amyloid Neuropathies, Familial / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D019683:Penetrance; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D015996:Survival Rate; D013997:Time Factors