Spinocerebellar Ataxia with Axonal Neuropathy 3 (COA7)
Spinocerebellar ataxia with axonal neuropathy 3 is an autosomal recessive disorder caused by pathogenic variants in COA7. This gene encodes cytochrome c oxidase assembly factor 7, a protein that localizes to the mitochondria and is involved in the assembly of mitochondrial complex IV. Affected patients exhibit gait disturbance, progressive weakness and wasting of distal limb muscles, and ataxia. Several patients have exhibited symptoms including intellectual disability, cardiac abnormalities, and leukoencephalopathy. Currently, no clear genotype-phenotype correlation exists. Shortened life expectancy has not been reported
For information about carrier frequency and residual risk, please see the residual risk table.