Autosomal Recessive Ataxia Due To Ubiquinone Deficiency

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

Epidemiology

Prevalence is unknown.

Clinical description

Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.

Etiology

The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast.

Genetic counseling

The syndrome is transmitted as an autosomal recessive trait.