Support for inclusion of NKX6-2 in diagnostic panels for hypomyelinating leukodystrophies

Takeaway

  • Pathogenic variants of NKX6-2 were found to have a high mutation burden for development of spastic-ataxia 8 with hypomyelinating leukodystrophy in individuals from several different families and ethnic backgrounds.

Why this matters

    Results support inclusion of NKX6-2 in hypomyelinating leukodystrophy and spastic-ataxia diagnostic panels, particularly in cases where the individual has early onset nystagmus, cerebellar ataxia and neuroimaging signs of hypomyelination.