ATXN

AcronymDefinition
ATXNAtaxin
References in periodicals archive ?
While most types of SCAs are suggested as genetic diseases correlated with ATXN mutation, other pathogenic mechanisms that involve the dysfunction of mitochondria have been proposed [134, 135].
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.
SCA1 is caused by ataxin-1 protein deficiency including an expanded CAG trinucleotide repeat coded by the ATXN 1 gene (42,43,44).