Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.

Oula A KnuutinenJaakko H OikarainenMaria H Suo-PalosaariSalla M KangasElisa J RahikkalaTytti M-L PokkaJukka S MoilanenReetta M L HinttalaPäivi M VieiraJohanna M Uusimaa

Published in: Developmental medicine and child neurology (2021)

The cumulative childhood incidence of childhood-onset GWMDs was higher than previously described. Comprehensive epidemiological and natural history data are needed before future clinical trials are undertaken. What this paper adds Forty-nine distinct genetic white matter disorders (GWMDs) were identified, with 20% of cases being classic leukodystrophies. The cumulative childhood incidence of GWMDs was higher than described previously. A considerable proportion (36%) of GWMDs were previously undefined or recently characterised GWMDs. Mitochondrial aetiology was more common (21%) than previously reported.

Keyphrases

white matter
clinical trial
genome wide
risk factors
early life
copy number
multiple sclerosis
childhood cancer
intensive care unit
emergency department
oxidative stress
randomized controlled trial
gene expression
current status
dna methylation
big data
young adults