Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is caused by a mutation in the NAXE gene.
Patients with NAXE mutations present with (sub-) acute onset of ataxia, spinal myelopathy, and skin lesions. Clinical signs often occurring during the second year of life triggered by febrile infections. Disease course is rapidly progressive.
The NAXE gene encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX.
MRI shows diffuse cerebellar edema with increased T2 signal of cerebellar folia, cerebellar white matter, and cerebellar peduncles. Spinal cord imaging shows symmetrical high signal in the central spinal cord, in keeping with myelopathy.
References
NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Kremer LS et al., American Journal of Human Genetics, 99, 894-902, October 6 2016