A new phenotype associated with bi‐allelic mutations in NKX6‐2 leading to spastic ataxia 8 (SPAX8), autosomal recessive, with hypomyelinating leukodystrophy (OMIM: 617560) has recently been described by our group 2. The gene discussed is NKX6-2; the disease is spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.