Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.

The Cerebellum
Yoshio IkedaL P Ranum

Abstract

Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited, slowly progressive neurodegenerative disorder caused by a CTG.CAG repeat expansion located on chromosome 13q21. The expansion mutation was isolated directly from the DNA of a single patient using RAPID cloning and subsequently shown to co-segregate with disease in additional ataxia families including a seven-generation kindred (the MN-A family). The size-dependent penetrance of the repeat found in the large MN-A kindred makes it appear as though some parts of the family have a dominant disorder while other parts of this same family have recessive or sporadic forms of ataxia. While the linkage and size-dependent penetrance of the SCA8 CTG.CAG expansion in the MN-A family argue that the SCA8 expansion causes ataxia, the reduced penetrance in other SCA8 families and the discovery of expansions in the general population have led to a controversy surrounding whether or not the SCA8 expansion is pathogenic. A recently reported mouse model in which SCA8 BAC-expansion but not BAC-control lines develop a progressive neurological phenotype now demonstrates the pathogenicity of the (CTG.CAG)(n) expansion. These mice show a loss of cerebellar GABAergic inhibition and, similar ...Continue Reading

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