Fact 11: The Interplay of Genetics in Cerebellar Ataxia: An Inside Look
Genetics plays a pivotal role in cerebellar ataxia, and the understanding of this interplay has revolutionized how we perceive, diagnose, and approach the treatment of this condition. But it’s no easy feat, as genetics is a realm of remarkable complexity, with its implications extending far beyond our current comprehension.
At the heart of this is the understanding that many forms of cerebellar ataxia are hereditary, passed down through families via mutated genes. Mutations in over 35 genes have been linked to various forms of cerebellar ataxia, such as spinocerebellar ataxias (SCAs) and episodic ataxias (EAs). Each of these mutated genes results in a specific form of ataxia, with its own unique set of clinical features and progression patterns.
Delving deeper, the way these genetic forms of ataxia are inherited can also vary. Some are passed on in an autosomal dominant manner, meaning only one copy of the mutated gene, inherited from either parent, is enough to cause the disease. Others are autosomal recessive, requiring two copies of the mutated gene, one from each parent, to manifest the disease.
The study of genetics in cerebellar ataxia is not limited to hereditary forms. Even in sporadic cases, where there’s no apparent family history, research has shown that genetic factors can still play a part. For example, some individuals may have de novo mutations, where the mutation occurs spontaneously in the person’s own genes and is not inherited. (11)
