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Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex

✍ Scribed by Hidekazu Suzuki; Tomokatsu Yoshida; Mari Kitada; Juri Ichihashi; Hiroshi Sasayama; Yoshiro Nishikawa; Yoshiyuki Mistui; Masanori Nakagawa; Susumu Kusunoki


Publisher
Springer
Year
2011
Tongue
English
Weight
507 KB
Volume
259
Category
Article
ISSN
0340-5354

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Dominantly-inherited adult-onset leukody
✍ Dominic Thyagarajan; Timothy Chataway; Rong Li; Wei Ping Gai; Michael Brenner 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 530 KB

## Abstract We report on a pedigree of dominantly‐inherited, adult‐onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor. © 2004 Movement D