has material basis in germline mutation in GFAP Alexander disease https://rarediseases.info.nih.gov/diseases/5774/alexander-disease https://www.malacards.org/card/alexander_disease MONDO:0008752 MEDGEN:78724 NANDO:2200835 UMLS:C0270726 Orphanet:58 NCIT:C84545 AxD GARD:0005774 NANDO:1200554 NORD:749 Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. DOID:4252 MESH:D038261 alexanders leukodystrophy megalencephaly in infancy accompanied by progressive spasticity and dementia icd11.foundation:2023359698 OMIM:203450 ALXDRD Alexander disease SCTID:81854007 leukodystrophy