Article
Substitution of Glu to Lys at Codon 332 on the GFAP Gene Alone Is Causative for Adult-onset Alexander Disease.
Internal medicine (Tokyo, Japan) - 15 Jan 2024
Sanjo Nobuo, Suzuki Motohiro, Yoshihama Rei, Toyoshima Yasuko, Mizuta Ikuko, Fujita Nobuya, Usuda Hiroyuki, Uchiyama Yumiko, Yasuda Rei, Yoshida Tomokatsu, Yamada Masahito, Yokota Takanori
Abstract excerpt
A 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.