GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.

Alexander disease is a rare form of leukodystrophy caused by heterozygous mutations in the gene encoding glial fibrillary acidic protein (GFAP). Brain cavitation in the white matter, predominantly distributed in the frontal periventricular area, has been described in some cases. Here, we present a c...

Descripción completa

Detalles Bibliográficos
Autores principales: Takeuchi, Hirokazu, Higurashi, Norimichi, Kawame, Hiroshi, Kaname, Tadashi, Yanagi, Kumiko, Nonaka, Yuichiro, Hirotsu, Tatsuya, Matsushima, Satoshi, Shimizu, Tetsuya, Gomi, Taku, Fukasawa, Nei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8717161/
https://www.ncbi.nlm.nih.gov/pubmed/35003479
http://dx.doi.org/10.1016/j.radcr.2021.11.066

Ejemplares similares

Ejemplares similares