Neural Regeneration Research ›› 2022, Vol. 17 ›› Issue (11): 2445-2447.doi: 10.4103/1673-5374.338996

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

Jose Miguel Laffita-Mesa*, Martin Paucar, Per Svenningsson   

  1. Department of Clinical Neuroscience (CNS), Karolinska Universitetssjukhuset, Stockholm, Sweden
  • Online:2022-11-15 Published:2022-04-22
  • Contact: Jose Miguel Laffita-Mesa, PhD, jose.laffita@ki.se.

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Abstract: 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. ATXN2 CAG repeats are interrupted by CAA codons which is relevant only for DNA and RNA but not for protein since CAA also encodes glutamine (Q).