Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies

Abstract

Genetic leukoencephalopathies are inherited disorders characterized by progressive white matter involvement. Although most are paediatric conditions, late-onset adult leukoencephalopathies are being increasingly recognized. Adult leukoencephalopathies may present as neurodegenerative diseases with cognitive decline and motor symptoms. Similar to their paediatric counterparts, different adult leukoencephalopathies often have distinctive MRI appearances. In particular, DWI has been recently shown to demonstrate specific patterns of persistent diffusion restriction in several adult-onset leukoencephalopathies. As such, DWI may provide important clues to the diagnosis of adult-onset leukoencephalopathy. The purpose of this review is to discuss characteristic DWI features in some late-onset leukoencephalopathies.

Keywords: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP); Fragile X-associated tremor and/or ataxia syndrome (FXTAS); Leukoencephalopathy due to autosomal recessive mutations in the mitochondrial alanyl–transfer RNA (tRNA) synthetase gene (AARS2-L); Neuronal intranuclear inclusion disease (NIID).