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21.09.2018 | Original Article

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

verfasst von: C. Coomans, A. Sieben, M. Lammens, C. Ceuterick-de Groote, C. Vandenbroecke, I. Goethals, D. Van Melkebeke, D. Hemelsoet

Erschienen in: Acta Neurologica Belgica | Ausgabe 4/2018

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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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Titel: Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease
verfasst von: C. Coomans
A. Sieben
M. Lammens
C. Ceuterick-de Groote
C. Vandenbroecke
I. Goethals
D. Van Melkebeke
D. Hemelsoet
Publikationsdatum: 21.09.2018
Verlag: Springer International Publishing
Erschienen in: Acta Neurologica Belgica / Ausgabe 4/2018
Print ISSN: 0300-9009
Elektronische ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-018-1023-8

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

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