Recessively‐Inherited Adult‐Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene - Fu, Mu‐Hui; Chang, Yung‐Yee; Lin, Ni‐Hsuan; Yang, Ai‐Wen; Chang, Chiung‐Chih; Liu, Jia‐Shou; Peng, Cheng‐Huei; Wu, Kay, L.H.; Perng, Ming‐Der; Lan, Min‐Yu (Movement disorders, 2020)
Keywords: Adolescent; Adult; Alexander disease; Alexander Disease - diagnostic imaging; Alexander Disease - genetics; Alexander's disease; astrocyte; GFAP; Glial fibrillary acidic protein; Glial Fibrillary Acidic Protein - genetics; Homozygote; Humans; Leukodystrophy; Magnetic resonance imaging; Male; Movement disorders; Mutation; Mutation - genetics; Phenotype; Phenotypes; recessive mutation; Alexander disease; leukodystrophy; astrocyte; GFAP; recessive mutation