Are ATXN2 variants modifying our understanding about neural pathogenesis,phenotypes,and diagnostic?

ATXN2 one gene with multiple phenotype effects:ATXN2 gene encodes a cytosolic protein(ataxin-2)with pleiotropic functions(see below).This gene contains a number of exonic Cytosine-Adenine-Guanine(CAG)-repeats which encodes a polyglutamine tract(polyQ)in the N-terminal intrinsically disordered region(IDR)of the protein.ATXN2CAG repeats are interrupted by CAA codons which is relevant only for DNA and RNA but not for protein since CAA also encodes glutamine(Q).