Inheritance and Genetics of Spinocerebellar Ataxia

Spinocerebellar Ataxia Genetics: Book Excerpts

• Ataxia - genetics - Ataxia

Spinocerebellar Ataxia: Genetics Information

Genetics of Spinocerebellar Ataxia: The basic defect in all types of spinocerebellar ataxia is a an expansion of a CAG triplet repeat. In this way, it is similar to fragile-X syndrome, Huntington disease and myotonic dystrophy, all of which exhibit a triplet repeat expansion of a gene. In the case of spinocerebellar ataxia I, the gene is SCA1, found on chromosome 6. The protein product of the gene - called ataxin-1 - varies in size, depending on the size of the CAG triplet repeat. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Spinocerebellar Ataxia refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.

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