Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Viorica ChelbanM AlsagobK KlothA Chirita-EmandiJ VandrovcovaR MaroofianI DavagnanamS BakhtiariM D AlSayedZ RahbeeniH AlZaidanN T MalintanJ JohannsenS EfthymiouE Ghayoor KarimianiK MankadS A Al-ShahraniM Beiraghi ToosiM AlShammariS GroppaN A HaridyL AlQuaitA QariR HumaM A SalihR AlmassF B AlmutairiM H HamadI A AlorainyK RamzanF ImtiazM PuiuM C KruerT BierhalsN W WoodD ColakH HouldenN KayaPublished in: European journal of neurology (2019)
NKX6-2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. Therefore, it is recommended that NXK6-2 should be included in hypomyelinating leukodystrophy and spastic ataxia diagnostic panels.