Adult-onset Alexander disease with unusual inflammatory features and a novel GFAP mutation in two patients

Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12927. doi: 10.1111/nan.12927.

Authors

Fouzia Ziad¹, Gert Cypers², Matthew Phillips³, Piet Vanhoenacker⁴, Arne Hostens², Satish Yadavraj³, Duncan Lamont¹, Thomas Robertson⁵

Affiliations

¹ Department of Pathology, Waikato Hospital, Hamilton, New Zealand.
² Department of Neurology, Onze-Lieve-Vrouwziekenhuis, Aalst, Belgium.
³ Department of Neurology, Waikato Hospital, Hamilton, New Zealand.
⁴ Department of Radiology, University Hospital, Ghent, Belgium.
⁵ Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, Australia.

PMID: 37495513
DOI: 10.1111/nan.12927

No abstract available

Keywords: Alexander disease; GFAP mutation; adult onset; inflammation.

Publication types

Case Reports

MeSH terms

Adult
Alexander Disease* / genetics
Brain / diagnostic imaging
Glial Fibrillary Acidic Protein / genetics
Humans
Magnetic Resonance Imaging
Mutation

Substances

Glial Fibrillary Acidic Protein
GFAP protein, human