Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene

OBJECTIVES: Alexander disease (AD) is a rare disorder of the CNS. Diagnosis is based on clinical symptoms, typical MRI findings, and mutations in the glial fibrillary acid protein (GFAP) gene. In this case study, we describe a new mutation (p.L58P) in GFAP that caused a phenotype of adult-onset AD (...

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Detalles Bibliográficos
Autores principales: Goerttler, Tsepo, Zanetti, Letizia, Regoni, Maria, Egger, Karl, Kellner, Elias, Deuschl, Cornelius, Kleinschnitz, Christoph, Sassone, Jenny, Klebe, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128028/
https://www.ncbi.nlm.nih.gov/pubmed/35620133
http://dx.doi.org/10.1212/NXG.0000000000000681

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128028/
https://www.ncbi.nlm.nih.gov/pubmed/35620133
http://dx.doi.org/10.1212/NXG.0000000000000681

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