A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis

• Published in: No to hattatsu Vol. 37; no. 1; p. 55
• Main Authors: Wakabayashi, Kazuyo, Lai, Mizue, Masuko, Kaori, Yamashita, Sumimasa, Yamada, Michiko, Iwamoto, Hiroko, Aida, Noriko, Shiroma, Naohide, Kanazawa, Naomi, Tsujino, Seiichi
• Format: Journal Article
• Language: Japanese
• Published: Japan 01.01.2005
• Subjects: Adult; Alexander Disease - diagnosis; Alexander Disease - genetics; Brain - pathology; DNA Mutational Analysis; Female; Glial Fibrillary Acidic Protein - genetics; Humans; Mutation; Survivors
• ISSN: 0029-0831
• DOI: 10.11251/ojjscn1969.37.55

Alexander disease is a hereditary disorder of myelin degeneration. The pathological feature of the brain is the characteristic inclusion bodies in astrocytes called Rosenthal fibers. The major components of the Rosental fibers are known to be alpha B-crystallin and glial fibrillary acidic protein (GFAP). In recent years, reports have indicated mutations of the GFAP gene in patients with Alexander disease. The R239 mutation (R239C, R239H) tends to cause comparatively more severe conditions among the GFAP mutations. In this study. we examined a long-term survival case of a patient (age 25 years, 7 months) with infantile Alexander disease with an R239C mutation confirmed by DNA analysis. There are no past reports of subjects with the R239C mutation who had as prolonged a long-term survival as our case. Our subject's condition was not as severe as those with the R239H mutation. The clinical progress in those other reports also varied by case. The R239C mutation does not show as much correlation with the clinical presentation as the R239H mutation. We believe that factors such as the environment also play a part in the prognosis of the disease.