Familial case of ataxia with oculomotor apraxia: first observation in Russian population

Abstract

Hereditary ataxias represent a clinically and genetically heterogeneousgroup of disorders, modern classification of which isbased on identification of a primary genetic and/or biochemicaldefect in examined patients and their family members. Recently,autosomal recessive ataxia with oculomotor apraxia wasdescribed; it is characterized by combination of coordinationproblems with specific abnormalities of voluntary eye movementsand, probably, by high prevalence if a majority of populations.We presented the first description of this phenotype inRussia observed in two sibs (sisters). Biochemical screening(increased serum level of alphafetoprotein) and molecularanalysis enabled to diagnose in this family ataxia-oculomotorapraxia, type 2 (AOA2) the disorder caused by pathology ofsenataxin protein and mutations of the respective gene SETX onchromosome 9q34.

Keywords

• ataxia with oculomotor apraxia
• molecular diagnosis
• senataxin