Balkan Journal of Medical Genetics

INFANTILE ALEXANDER DISEASE WITH LATE ONSET INFANTILE SPASMS AND HYPSARRHYTHMIA
Paprocka J1,*, Rzepka-Migut B2, Rzepka N2, Jezela-Stanek A3, Morava E4
*Corresponding Author: Dr. Justyna Paprocka, Department of Paediatric Neurology, School of Medicine in Katowice, Medical University of Silesia, Medyków 16, 40-752 Katowice, Poland. Tel: +48-606- 415-888. Fax: +48-322-071-615. E-mail: justyna.paprocka@interia.pl
page: 77

REFERENCES

1. Tonduti D, Ardissone A, Ceccherini I, Giaccone G, Farina L, Moroni I. Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. Neurol Sci. 2016; 37(6): 973-977. 2. Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, Lerman-Sagie T, Blumkin L. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. Eur J Paediatr Neurol. 2014; 18(4): 495-501. 3. Ashrafi MR, Tavasoli A, Aryani O, Alizadeh H, Houshmand M. Alexander disease: Report of two unrelated infantile form cases, identified by GFAP mutation analysis and review of literature; the first report from Iran. Iran J Pediatr. 2013; 23(4): 481-484. 4. Goyal M, Mehndiratta S, Faruq M, Dwived MK, Kapoor S. Infantile onset Alexander disease with normal head circumference: a genetically proven case report. J Clin Diagn Res. 2014; 8(11): 3-4. 5. Poloni CB, Ferey S, Haenggeli CA, Delavelle J, Bottani A, Salomons GS, et al. Alexander disease: early presence of cerebral MRI criteria. Eur J Paediatr Neurol. 2009; 13(6): 556-558. 6. Olabaria M, Putilina M, Riemer EC, Goldman JE. Astrocyte pathology in Alexander disease causes a marked inflammatory environment. Acta Neuropathol. 2015; 130(4): 469-486. 7. Van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, et al. Alexander disease: Diagnosis with MR imaging. Am J Neuroradiol. 2001; 22(3): 541-552. 8. Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology. 2002; 58(10): 1494-1500. 9. Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, et al. Glial fibrillary acidic protein mutations in infantile , juvenile, and adult forms of Alexander disease. Ann Neurol. 2005; 57(3): 310-326. 10. Wilson BA, Vargha-Khadem F, Florschutz G. Alexander’s disease and the story of Louise. Nueropsychol Rehabil. 2018; 28(2): 199-207. 11. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glialfibril laryacidic protein, are associated with Alexander disease. Nat Genet. 2001; 27(1): 117- 120. 12. Hagemann TL1, Connor JX, Messing A. Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response. J Neurosci. 2006; 26(43): 11162-11173. 13. Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S. An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. Brain Dev. 2006; 28(2): 131-133. 14. Dotti MT, Buccoliero R, Lee A, Gorospe JR, Flint D, Galluzzi P, et al. An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. J Neurol. 2009; 256(4): 679-682. 15. Lee SH, Nam TS, Kim KH, Kim JH, Yoon W, Heo SH, et al. Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model. BMC Neurol. 2017; 17(1): 175. 16. Torisu H, Yoshikawa Y, Yamaguchi-Takada Y, Yano T, Sanefuji M, Ishizaki Y, et al. Alexander disease with mild dorsal brain stem atrophy and infantile spasms. Brain Dev. 2013; 35(5): 441-444. 17. Lee JM, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, et al. A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. J Korean Med Sci. 2006; 21(5): 954-957.

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