While the most recognized phenotypes are characterized by a hypomyelinating leukodystrophy with early‐childhood onset, recent reports suggest that a less severe spastic ataxia phenotype with adolescent‐to‐adult onset, without hypomyelination, may be associated with an intronic mutation (c.1909 + 22G>A) in POLR3A.10, 11, 12, 13, 14, 15, 16. The gene discussed is POLR3A; the disease is leukodystrophy.