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Am J Hum Genet. 1983 May;35(3):523-9.

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.


The frequency of consanguineous marriages up to second-cousin degree has been carefully established in the past for each of the 95 Italian provinces using the Archive of about 500,000 dispensations given by the Catholic church for such marriages over a 55-year period. It has therefore been possible to compare the frequency of consanguineous marriages observed among 83 couples of parents of Friedreich patients with the frequency of consanguineous marriages of the same degree in the different Italian provinces during the same years. From these data, an estimate of the incidence of the disease has been obtained for the whole nation (between 1/22,000 and 1/25,000). In Southern Italy, where 16 out of the 18 consanguineous marriages among Friedreich parents are concentrated, the incidence of the disease is similar (between 1/25,000 and 1/28,000). This study indicates that the Archive of consanguinity existing in Italy allows a reliable comparison of the frequency of consanguineous marriages among parents of patients with that of the general population. The same method can therefore be applied to the study of incidence of other autosomal recessive disorders in Italy.

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