Appendix e-2
Genealogical methods
The two large Calabrian EOFAD families (N family and TO family ) have been reconstructed from the present to the 17th century through the systematic collection of data from Municipal documents (births, deaths and marriage acts since 1809) and church registers dating back to 1606 containing baptisms, burial and marriage records. An important source of data was represented by Status Animarum registers, a census equivalent filled out by the priest before Easter to make sure that all householders and their family members confessed and received Communion. The registers contain all the nuclear families living in the parish, giving the possibility of reconstructing reconstruct genealogies and are available in the village of origin of N family (Serr) for the period from 1606 to 1892.
To avoid bias in the collection of data we followed apparently unaffected as well as affected branches of the genealogical tree to evidence consanguinities at any level and to obtain a matched control population of the same historical periods. Any subject transitively linked with the proband(s) by ascent, descent or marriage relationship was considered as belonging to the pedigree. Genealogical search was conducted in different towns/villages in Calabria (apparent places of origin of the different branches of the N and TO families). Clinical data of ancient patients were found through the systematic exploitation of Psychiatric hospital archives containing 16000 records from 1881 onwards (figure E-1).
A database containing subjects linked through the transitive filiation-marriage relationships has been implemented since the beginning of the study in 1973 and is now maintained and updated at the Regional Neurogenetic Centre in Lamezia Terme. The part of the database relative to both EOFAD pedigrees contains about 50000 records from the 17th century onwards.
Genealogical reconstruction of the Naples family was possible through a survey of the Official state archives in the town of its apparent origin (TdG) and through the exploration of National State Archives in Naples encompassing all historical data and Civil acts originating from the Naples Kingdom and dating back to Murat’s reign (1809).
Corresponding author: A.C. Bruni MD, e-mail