About 65% of published cases with TUBB4A mutations have H-ABC; the heterozygous mutation p.Asp249Asn (TUBB4AD249N/+) is the most common mutation (24.1% of overall mutations in a cohort of 166 individuals- personal communication B. Charsar) amongst all forms of TUBB4A associated leukodystrophy, and is particularly represented in individuals with a H-ABC phenotype (Blumkin et al., 2014; Ferreira et al., 2014; Miyatake et al., 2014; Pizzino et al., 2014; Purnell et al., 2014). This evidence concerns the gene TUBB4A and leukodystrophy.