A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy

We present here a 25-year-old woman with genetically confirmed (p.R276L mutation in the GFAP gene) juvenile-onset AxD. Episodic vomiting appeared at age nine, causing anorexia and insufficient growth. Brain MRI at age 11 showed a small nodular lesion with contrast enhancement in the left dorsal port...

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Detalles Bibliográficos
Autores principales: Namekawa, Michito, Takiyama, Yoshihisa, Honda, Junko, Sakoe, Kumi, Naoi, Tametou, Shimazaki, Haruo, Yamagata, Takanori, Momoi, Mariko Y., Nakano, Imaharu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Milan 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506840/
https://www.ncbi.nlm.nih.gov/pubmed/22198646
http://dx.doi.org/10.1007/s10072-011-0902-z

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