TRIO gene segregation in a family with cerebellar ataxia.

Aim Of The Study: To report a family with a novel TRIO gene mutation associated with phenotype of cerebellar ataxia.

Materials And Methods: Seven family members of Caribbean descent were recruited through our ataxia research protocol; of the family members, the mother and all 3 children were found to be affected with severe young-onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization, mitochondrial DNA analysis, and whole-exome sequencing were performed on 3 of the family members (mother and 2 daughters).