Research Grant Award

Alfredo Brusco, PhD

University of Torino
Identification of the gene responsible for a novel form for congenital cerebellar ataxia

Aim of this work is the identification of a novel gene responsible for cerebellar ataxia. We will study a girl affected by a congenital form of ataxia associated to mental retardation, who is carrier of a cytogenetics anomaly: a translocation that led to a reciprocal exchange of part of chromosomes X and 8. We have evidence that the breakpoint on the chromosome 8 in interrupting the candidate gene and we aim to prove it. We will also add further data on the expression pattern in brain to sustain the hypothesis that this gene is important in the cerebellar functions. Finally, we hypothesize that this can be mutated in other patients with ataxia: to prove this we will screen for mutations 50 ataxic patients with a congenital form of ataxia. The identification of this novel gene may shed light on some new mechanism leading to ataxia and/or mental retardation.