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Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
ConclusionsAO-LVWM presents varying clinical manifestations at onset, including stroke-like events. WM rarefaction is the most consistent diagnostic clue even in the latest onset cases. Spectroscopy and electrophysiological features are compatible with axon, rather than myelin, damage. Cerebral glucose metabolic abnormalities and retinal alterations can be present. LVWM might also be caused by a digenic inheritance affecting the eIF2B complex.
Source: Journal of Neurology - May 12, 2023 Category: Neurology Source Type: research
