Recently, the loss of function p.N102D substitution, in heterozygous state in Tuba1a has been reported to reduce Tuba1a and developmental total α-tubulin stability, causing adult onset movement disorder and ataxia in Tuba1aND/+mice (Buscaglia et al., 2020, 2022). The gene discussed is TUBA1A; the disease is cerebellar ataxia.