title: Spinocerebellar ataxia type 7 (SCA7): family princeps history, genealogy and geographical distribution.
abstract: We conducted a 320 year retrospective survey of the history and genealogy of a large Brazilian family with SCA7. The ancestral couple was from the State of Ceará, Brazil, and the genealogical tree was composed of 577 individuals, including 217 males (37.6%), 255 females (44.1%) and 105 individuals of unknown sex (18.1%). Based on collected information, the 118 individuals consistently affected were distributed in generations IV (n=2), V (n=28), VI (n=57), VII (n=25) and VIII (n=6) of the genealogical tree. Sixty affected members are alive, 37 of them (61.6%) live in the Northeast region, 12 (20%) in the Southeast, 9 (15%) in the Center-West and 2 (3.3%) in the North. This genealogical survey was based only on 4 of the 10 children of the ancestral couple since the destiny of the remaining 6 is unknown. We propose that other Brazilian families with SCA7 may have the same genetic origin.
authors.affiliation: Department of Neurology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Salomão
authors.initials: S
authors.lastname: da Cunha Linhares
authors.forename: Wagner Goes
authors.initials: WG
authors.lastname: Horta
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques Júnior
mesh_terms: D001938:Brazil; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012189:Retrospective Studies; D020754:Spinocerebellar Ataxias / Q000235:genetics*