[Genetic demyelinating diseases]

Abstract

Diagnosis of leukodystrophiesin adults is difficult. Diagnosis requires a collaborative approach including clinical,neuroradiological, biochemical, and genetic analyses. Less than thirty percent ofadult-onset leukodystrophies have a precise diagnosis. Improved neuroradiological knowledgeis making it possible to determine MRI (magnetic resonance imaging) phenotypes that point towards specific causes and specific diagnoses. The cavitary leukodystrophies includechildhood ataxia with central nervous system hypomyelination/vanishing white matter(CACH/VWM) syndromeand megalencephalic leukoencephalopathy with subcortical cysts (MLC). Damage tothe posterior spinal cord suggests leukoencephalopathy with damage to the brainstem and cord marrow and is accompanied by elevated lactate (LBSL).