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- Nobuo Sanjo, Motohiro Suzuki, Rei Yoshihama, Yasuko Toyoshima, Ikuko Mizuta, Nobuya Fujita, Hiroyuki Usuda, Yumiko Uchiyama, Rei Yasuda, Tomokatsu Yoshida, Masahito Yamada, and Takanori Yokota.
- Department of Internal Medicine (Neurology), Kudanzaka Hospital, Japan.
- Intern. Med. 2024 Jan 15; 63 (2): 309313309-313.
AbstractA 57-year-old man whose mother had been pathologically diagnosed with Alexander disease (ALXDRD), presented with cerebellar ataxia, pyramidal signs, and mild dysarthria. Brain magnetic resonance imaging revealed typical ALXDRD alterations, such as atrophy of the medulla oblongata (MO) and cervical spinal cord, a reduced sagittal diameter of the MO, and garland-like hyperintensity signals along the lateral ventricular walls. A genetic analysis of GFAP by Sanger sequencing revealed a single heterozygous mutation of Glu to Lys at codon 332 (c.994G>A) in the GFAP gene. Our results newly confirmed that p.E332K alone is the pathogenic causative mutation for adult-onset ALXDRD.
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