Autosomal dominant and autosomal recessive ataxias are hereditary ataxias, and spinocerebellar ataxia (SCA) and Friedreich’s ataxia (FRDA) are the most common forms of hereditary ataxia. Autosomal dominant genes express themselves when present. Autosomal recessive genes will only express themselves when in the homozygous state — i.e., both genes in the gene pair are the recessive gene form. Thus, recessive genes can be “carried” by those whose phenotype does not exhibit the gene characteristic, while dominant genes cannot be “carried”. Therefore, generally autosomal dominant ataxias are easier to express and at a higher morbidity than autosomal recessive ataxias.
However, it is important to note that the presence of a specific gene does not guarantee the development of the associated ataxia. Other factors, such as environmental influences and genetic modifiers, can also play a role in the manifestation of the disease. Additionally, the severity and progression of ataxias can vary widely among individuals, even within the same genetic subtype. Therefore, a comprehensive understanding of the underlying genetic mechanisms and individualized management approaches are crucial for effectively addressing hereditary ataxias.