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Other than the 68 FA cases inherited as AR, out of 61 cases considered to have been inherited as AD, two have shown the ataxin 1 (ATXN 1) (SCA1) gene mutation, and two have shown the CACNA1A (SCA6) gene mutation.
expansions in ataxin 7 result in different types of aggregation and
molecular and Cellular biology, Sep 2003, Ataxin 3 interaction with Rad23 and valosin containing protein and its association with ubiquitin chain and the proteosome are consistant with a role in ubiquitin mediated proteolysis, vol.
More specifically, the study shows that expansions of a run of the amino acid glutamine in ataxin 2 are associated with an increased risk for ALS, with a frequency of 4.