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Updated: Feb 5, 2026

Using Retinal Imaging to Study Dementia
Published on: November 6, 2017
Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison
C Coomans1, A Sieben2,3, M Lammens3,4,5
1Department of Neurology, Ghent University Hospital, Ghent, Belgium. carolinecoomans@hotmail.com.
Insights
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALLD) and Nasu Hakola disease (NHD) are rare white matter diseases. Comparing three cases revealed novel mutations, advancing understanding of these progressive neurodegenerative conditions.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALLD) and Nasu Hakola disease (NHD) are underrecognized progressive white matter diseases.
- Both conditions can manifest with early-onset dementia, leukoencephalopathy, and cerebral calcifications.
Abstract:
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young dementia, leukoencephalopathy and brain calcifications. We report and compare three cases in terms of clinical phenotype, imaging and neuropathological findings. Both cases have led to the identification of two novel causal mutations.
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