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Premutation for the martin-bell syndrome analyzed in a large sardinian family: II. Neuropsychological and behavioral data

1992; Wiley; Volume: 43; Issue: 1-2 Linguagem: Inglês

10.1002/ajmg.1320430115

1096-8628

Carlo Cianchetti, Giorgio Filippi, Giuseppina Sannio‐Fancello, Anna‐Lisa Fratta, Maria Giovanna Marrosu, Franca Dagna‐Bricarell, M. Siniscalco,

Obsessive-Compulsive Spectrum Disorders

Abstract We describe the neuropsychological and behavioral profiles of 48 critical members of a previously reported Sardinian pedigree [Filippi et al., 1991], in which the fully manifested Martin‐Bell syndrome (MBS), observed among males of the latest generations, is clearly the result of step‐wise mutational events occurred repeatedly along the X‐chromosome pathway linking all of them to a common ancestress, who must have been heterozygous for a fragile X (FRAX) premutation. We found that the unquestionable presence in the family of normal transmitting males and females could not be determined on the basis of neuropsychological and behavioral data alone. However, we think that the large variation observed in the expression of most diagnostic parameters among the MBS patients and their close female relatives in this family, could by itself be a connotation of the genome instability which characterizes the FRAX region in pedigrees segregating for the FRAX premutation(s) and mutation(s).