Adult-onset leukodystrophies are uncommon compared to those that present in childhood and in most instances are a delayed and atypical presentation of conditions more common in childhood. They are important differential considerations when assessing adults with white matter diseases.
It should be noted that the term leukodystrophy and which conditions are considered to be leukodystrophies varies from publication to publication. This is discussed in greater detail in the general article: leukodystrophy.
The vast majority of adult-onset leukodystrophies are conditions that are also, and most frequently, diagnosed in childhood. Some rare entities, however, are exclusively seen in adults 1. Below are the more common conditions seen in each instance 1,2.
Adult-onset of leukodystrophies usually diagnosed in childhood
- Alexander disease
- cerebrotendinous xanthomatosis
- globoid cell leukodystrophy (Krabbe disease)
- L-2-hydroxyglutaric aciduria
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- leukoencephalopathy with ataxia
- leukoencephalopathy with calcifications and cysts (Labrun syndrome)
- megalencephalic leukoencephalopathy with subcortical cysts
- metachromatic leukodystrophy
- Sjögren-Larsson syndrome
- vanishing white matter disease
- adult cerebral adrenoleukodystrophy
Leukodystrophies exclusively diagnosed in adults
- 1. Köhler W, Curiel J, Vanderver A. Adulthood leukodystrophies. (2018) Nature reviews. Neurology. 14 (2): 94-105. doi:10.1038/nrneurol.2017.175 - Pubmed
- 2. Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Adult Leukodystrophies: A Step-by-Step Diagnostic Approach. (2019) Radiographics : a review publication of the Radiological Society of North America, Inc. 39 (1): 153-168. doi:10.1148/rg.2019180081 - Pubmed