Hypomyelinating leukodystrophies — unravelling myelin biology

• Published in: Nature reviews. Neurology Vol. 17; no. 2; pp. 88 - 103
• Main Authors: Wolf, Nicole I., ffrench-Constant, Charles, van der Knaap, Marjo S.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.02.2021; Nature Publishing Group
• Subjects: 692/617/375/2764; 692/617/375/366; Animals; Biology; Brain - diagnostic imaging; Brain - metabolism; Demyelinating Diseases - diagnostic imaging; Demyelinating Diseases - metabolism; Development and progression; Globoid cell leukodystrophy; Humans; Leukoencephalopathies - diagnostic imaging; Leukoencephalopathies - metabolism; Magnetic Resonance Imaging - methods; Medicine; Medicine & Public Health; Myelin proteins; Myelin Sheath - metabolism; Myelin Sheath - pathology; Neurology; Oligodendroglia - metabolism; Oligodendroglia - pathology; Physiological aspects; Proteins; Review Article; Netherlands

Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by a primary lack of myelin deposition. Most patients with severe hypomyelination present in infancy or early childhood and develop severe neurological deficits, but the clinical presentation can als...