Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies
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SHORT REPORT
Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies Laurens J. L. De Cocker 1
&
Mauricio Castillo 2
Received: 29 June 2020 / Accepted: 27 August 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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) . Neuronal intranuclear inclusion disease (NIID) . Leukoencephalopathy due to autosomal recessive mutations in the mitochondrial alanyl–transfer RNA (tRNA) synthetase gene (AARS2-L)
Genetic leukoencephalopathies are inherited disorders characterized by progressive and usually symmetric white matter involvement. Although genetic leukoencephalopathies are mostly known as paediatric conditions, during the last decade lateonset or adult leukoencephalopathies have been increasingly recognized. Since these late-onset leukoencephalopathies typically begin with cognitive decline and motor symptoms such as gait disturbances, they may present as neurodegenerative diseases and pose significant diagnostic challenges. Diagnosis is essential for genetic counselling and treatment which is becoming increasingly available [1]. As their paediatric counterparts, genetic adult leukoencephalopathies often have distinctive MRI appearances [2]. Important diagnostic clues of adult-onset leukoencephalopathies may be provided by DWI. DWI has been recently shown to demonstrate specific white matter lesions with persistent restricted diffusion in * Laurens J. L. De Cocker [email protected] 1
Department of Radiology, AZ Maria Middelares, Buitenring Sint-Denijs 30, 9000 Ghent, Belgium
2
Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, NC, USA
several adult leukoencephalopathies, including adultonset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), leukoencephalopathy due to autosomal recessive mutations in the mitochondrial alanyl– transfer RNA (tRNA) synthetase gene (AARS2-L), and adult-onset neuronal intranuclear inclusion disease (NIID). A typical feature of these conditions is that the DWI abnormalities persist for long periods of time unlike
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