TRIO gene segregation in a family with cerebellar ataxia

Conclusions and clinical implicationsThe TRIO p.A1214V variant is associated with cerebellar ataxia in the studied family; it was present in all affected and unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on 2 affected generations). It is warranted to screen additional familial early-onset and rapidly progressive ataxia cases for this genotype. TRIO gene mutations may well represent a novel spinocerebellar ataxia subtype.
Source: Polish Journal of Neurology and Neurosurgery - Category: Neurosurgery Source Type: research