Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

Daniela Di BellaStefania MagriChiara BenzoniLaura FarinaCarmelo MaccagnanoElisa SartoMarco MoscatelliSilvia BarattaClaudia CianoSylvie H M J PiacentiniLara DraghiElena MauroDavide PareysonCinzia GelleraFranco TaroniEttore Salsano

Published in: European journal of neurology (2020)

A hypomyelinating pattern characterizes a relevant number of undefined leukoencephalopathies in adulthood. A comprehensive genetic screening allows definite diagnosis in about half of patients, and demonstrates the involvement of many disease-causing genes, including genes associated with severe early-onset HLDs, and genes causing peroxisome biogenesis disorders.

Keyphrases

early onset
genome wide
late onset
end stage renal disease
ejection fraction
newly diagnosed
dna methylation
peritoneal dialysis
depressive symptoms
bioinformatics analysis
gene expression
genome wide identification
transcription factor
patient reported
drug induced