Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

• Published in: Acta neurologica Belgica Vol. 118; no. 4; pp. 607 - 615
• Main Authors: Coomans, C., Sieben, A., Lammens, M., Ceuterick-de Groote, C., Vandenbroecke, C., Goethals, I., Van Melkebeke, D., Hemelsoet, D.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01-12-2018
• Subjects: Adult; Biomedical and Life Sciences; Biomedicine; Brain - diagnostic imaging; Brain - pathology; Calcinosis - diagnostic imaging; Calcinosis - pathology; Dementia - diagnostic imaging; Dementia - pathology; Epilepsy - diagnostic imaging; Epilepsy - pathology; Female; Humans; Leukoencephalopathies - diagnostic imaging; Leukoencephalopathies - pathology; Lipodystrophy - diagnostic imaging; Lipodystrophy - pathology; Male; Medicine/Public Health; Middle Aged; Neurology; Neuroradiology; Neurosciences; Original Article; Osteochondrodysplasias - diagnostic imaging; Osteochondrodysplasias - pathology; Subacute Sclerosing Panencephalitis - diagnostic imaging; Subacute Sclerosing Panencephalitis - pathology; Brain calcifications; Nasu Hakola; Leukoencephalopathy; ALSP; PLOSL
• ISSN: 0300-9009; 2240-2993
• DOI: 10.1007/s13760-018-1023-8

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.