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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 (...
Autores principales: | Goerttler, Tsepo, Zanetti, Letizia, Regoni, Maria, Egger, Karl, Kellner, Elias, Deuschl, Cornelius, Kleinschnitz, Christoph, Sassone, Jenny, Klebe, Stephan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2022
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Materias: | |
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 |
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