Abstract |
Alexander disease is a rare disorder of the central nervous system caused by a de novo mutation in the glial fibrillary acidic protein (GFAP) gene. Unlike the much more common infantile form, the juvenile form is slowly progressive with bulbar, pyramidal and cerebellar signs. Herein, we report a 9-year old Japanese girl suffering from frequent vomiting, slurred speech and truncal ataxia. Juvenile Alexander disease was diagnosed by genetic analysis, which detected a novel GFAP mutation, D360V. We also describe our clinical success in treating this patient with thyrotropin releasing hormone (TRH).
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Authors | Keiko Ishigaki, Yasushi Ito, Yukio Sawaishi, Kayano Kodaira, Makoto Funatsuka, Nozomi Hattori, Kazutoshi Nakano, Kayoko Saito, Makiko Osawa |
Journal | Brain & development
(Brain Dev)
Vol. 28
Issue 10
Pg. 663-7
(Nov 2006)
ISSN: 0387-7604 [Print] Netherlands |
PMID | 16774812
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Glial Fibrillary Acidic Protein
- Aspartic Acid
- Thyrotropin-Releasing Hormone
- Valine
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Topics |
- Alexander Disease
(drug therapy, genetics, pathology)
- Aspartic Acid
(genetics)
- Child
- DNA Mutational Analysis
(methods)
- Female
- Glial Fibrillary Acidic Protein
(genetics)
- Humans
- Magnetic Resonance Imaging
(methods)
- Mutation
- Thyrotropin-Releasing Hormone
(therapeutic use)
- Valine
(genetics)
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