RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Marisa I MendesLydia M C GreenEnrico BertiniDavide TondutiChiara AielloDesiree SmithEttore Salsano Shanice BeerepootJozef HertecantSarah von SpiczakJohn H LivingstonLisa EmrickJamie FraserLaura RussellGenevieve BernardStefania MagriDaniela Di BellaFranco TaroniMary K KoenigIsabella MoroniGerarda CappuccioNicola Brunetti-PierriJullie RheeBryce A MendelsohnIngo HelbigKatherine L HelbigHiltrud MuhleOmar IsmaylAdeline L VanderverGajja S SalomonsMarjo S van der KnaapNicole I Wolf

Published in: Annals of clinical and translational neurology (2019)

Variants in RARS1 impair ArgRS activity and do not only lead to a classic hypomyelination presentation with nystagmus and spasticity, but to a wide spectrum, ranging from severe, early-onset epileptic encephalopathy with brain atrophy to mild disease with relatively preserved myelination.

Keyphrases

early onset
late onset
spinal cord injury
copy number
white matter
resting state
botulinum toxin
upper limb
gene expression
cerebral palsy
multiple sclerosis
drug induced
children with cerebral palsy
genome wide
subarachnoid hemorrhage