Leukodystrophies and genetic leukoencephalopathies in children

C Sarret

doi:10.1016/j.neurol.2019.04.003

Leukodystrophies and genetic leukoencephalopathies in children

Rev Neurol (Paris). 2020 Jan-Feb;176(1-2):10-19. doi: 10.1016/j.neurol.2019.04.003. Epub 2019 Jun 4.

Author

C Sarret¹

Affiliation

¹ Pôle femme et enfant, hôpital Estaing, centre de compétence des leucodystrophies et leucoencéphalopathies génétiques de cause rare, centre hospitalier universitaire de Clermont-Ferrand, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand cedex 1, France. Electronic address: csarret@chu-clermontferrand.fr.

PMID: 31174885
DOI: 10.1016/j.neurol.2019.04.003

Abstract

Leukodystrophies and genetic leukoencephalopathies are a large group of genetic disorders affecting central nervous system white matter. They can begin at any age, however this study focuses on disorders beginning in childhood and adolescence. We discuss the recent definitions, classifications, and classic syndromes, as well as genetic progress in the field through the identification of new genes and several new genetic syndromes.

Keywords: Demyelination; Genetic leukoencephalopathies; Hypomyelination; Leuko-vasculopathies; Leukodystrophies; Myelin disorders; Myelin vacuolization.

Publication types

Review

MeSH terms

Adolescent
Age of Onset
Child
Hereditary Central Nervous System Demyelinating Diseases / diagnosis
Hereditary Central Nervous System Demyelinating Diseases / epidemiology
Hereditary Central Nervous System Demyelinating Diseases / genetics*
Hereditary Central Nervous System Demyelinating Diseases / therapy
Humans
Leukoencephalopathies / diagnosis
Leukoencephalopathies / epidemiology
Leukoencephalopathies / genetics*
Leukoencephalopathies / therapy