We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4.
- Authors
Kanbayashi, Takamichi; Saito, Fumiaki; Matsukawa, Takashi; Oba, Hiroshi; Hokkoku, Keiichi; Hatanaka, Yuki; Tsuji, Shoji; Sonoo, Masahiro
- Abstract
The article presents a case study of a 59-year old Japanese woman with vanishing white matter (VWM) disease. It states that she noticed gait unsteadiness and forgetfulness at the age of 56. It notes that her brain magnetic resonance imaging (MRI) showed symmetric diffuse high-intensity lesions in deep white matter on T2-weighted images. It mentions that her cerebrospinal fluid (CSF) examinations revealed elevation of protein and increased glycine concentrations.
- Publication
Clinical Genetics, 2015, Vol 88, Issue 4, p401
- ISSN
0009-9163
- Publication type
Academic Journal
- DOI
10.1111/cge.12554