Abbreviations AAO Age at onset AxD Alexander disease CLM Confocal laser microscope CNS Central nervous system EGFP Enhance green fluorescent protein FLAIR Fluid-attenuated inversion recovery gDNA genomic DNA GFAP Glial fibrillary acidic protein HIV Human immunodeficiency virus Hpf Hours post-fertilization HSP Heat shock protein MRI Magnetic resonance imaging PMD Protein-misfolding disorder RF Rosenthal fiber TEM Transmission electron microscopy VDRL Venereal disease research laboratory WT Wild-type Acknowledgements We thank Nan Hee Choi for technical assistance, Pamela Raymond for zebrafish gfap regulatory elements, Koichi Kawakami for mini-Tol2 (T2AL200R150G) plasmid, Eun Jin Kim for transmission electron microscopy and Eun Young Choi for encouragement. Funding This work was supported in part by grants from the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2013-R1A1A1058252), the Chonnam National University Hospital Biomedical Research Institute (CRI 12055–21 and CRI 13902–24), and the Chonnam National University Hwasun Hospital Biomedical Research Institute (HCRI 15013–21). These funding sources had no role in the design of the study and collection, analysis, and interpretation of data. Availability of data and materials All data generated or analyzed during this study are available from the corresponding authors on reasonable request. Authors’ contributions TSN, MKK and SYC conceived and designed the experiments. SHL, KHK and JHK performed the experiments. WY analysed MR images. TSN, SHL, JHK, WY, SHH, MJK, BAS, MDP, HEC, JJ, MKK and SYC analysed and interpreted the data. TSN, JJ, MKK and SYC wrote the manuscript. All authors read and approved the final manuscript. Ethics approval and consent to participate The study protocol was approved by the Institutional Review Board at Chonnam National University Hospital (CNUH-2014-066), and conducted in accordance with the 1964 Declaration of Helsinki and its later amendments. Written informed consents for the use of the medical records and GFAP gene sequences were obtained from all the participants including members of the proband’s family. Zebrafish study was granted a waiver of ethics approval by the Chonnam National University Medical School Institutional Animal Care and Use Committee. Consent for publication Written informed consent was obtained from the patient for publication of this case report. Competing interests The authors declare that they have no competing interests. Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.